Clinical Trials: SEARCH[Study] TILT[Study:StudyFirstPostDate] AREA[BasicSearch] Rare Diseases
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NCTID/Status
Study
Last Changed
1
NCT03491280
Recruiting
Recruiting
Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
Conditions: Rare Diseases; Genetic Predisposition
Intervention: NGS Diagnostic
Conditions: Rare Diseases; Genetic Predisposition
Intervention: NGS Diagnostic
September 30, 2019
2
NCT04024774
Not yet recruiting
Not yet recruiting
Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases
Conditions: Rare Diseases
Intervention: Biological Samples, Genetic Test
Conditions: Rare Diseases
Intervention: Biological Samples, Genetic Test
July 17, 2019
4
NCT02727010
Completed
Completed
Motherhood With MOtor Impairment Due to MAlady (Rare Disease)
Conditions: Disability Evaluation; Child of Impaired Parents
Conditions: Disability Evaluation; Child of Impaired Parents
May 25, 2018
5
NCT01793168
Recruiting
Recruiting
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders; Undiagnosed Disorders; Disorders of Unknown Prevalence; Cornelia De Lange Syndrome; Prenatal Benign Hypophosphatasia; Perinatal Lethal Hypophosphatasia; Odontohypophosphatasia; Adult Hypophosphatasia; Childhood-onset Hypophosphatasia; Infantile Hypophosphatasia; Hypophosphatasia; Kabuki Syndrome; Bohring-Opitz Syndrome; Narcolepsy Without Cataplexy; Narcolepsy-cataplexy; Hypersomnolence Disorder; Idiopathic Hypersomnia Without Long Sleep Time; Idiopathic Hypersomnia With Long Sleep Time; Idiopathic Hypersomnia; Kleine-Levin Syndrome; Kawasaki Disease; Leiomyosarcoma; Leiomyosarcoma of the Corpus Uteri; Leiomyosarcoma of the Cervix Uteri; Leiomyosarcoma of Small Intestine; Acquired Myasthenia Gravis; Addison Disease; Hyperacusis (Hyperacousis); Juvenile Myasthenia Gravis; Transient Neonatal Myasthenia Gravis; Williams Syndrome; Lyme Disease; Myasthenia Gravis; Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome); Isolated Klippel-Feil Syndrome; Frasier Syndrome; Denys-Drash Syndrome; Beckwith-Wiedemann Syndrome; Emanuel Syndrome; Isolated Aniridia; Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11; Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15; Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion; Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication; Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion; Axenfeld-Rieger Syndrome; Aniridia-intellectual Disability Syndrome; Aniridia - Renal Agenesis - Psychomotor Retardation; Aniridia - Ptosis - Intellectual Disability - Familial Obesity; Aniridia - Cerebellar Ataxia - Intellectual Disability; Aniridia - Absent Patella; Aniridia; Peters Anomaly - Cataract; Peters Anomaly; Potocki-Shaffer Syndrome; Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11; Silver-Russell Syndrome Due to Imprinting Defect of 11p15; Silver-Russell Syndrome Due to 11p15 Microduplication; Syndromic Aniridia; WAGR Syndrome; Wolf-Hirschhorn Syndrome; 4p16.3 Microduplication Syndrome; 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome; Autosomal Recessive Stickler Syndrome; Stickler Syndrome Type 2; Stickler Syndrome Type 1; Stickler Syndrome; Mucolipidosis Type 4; X-linked Spinocerebellar Ataxia Type 4; X-linked Spinocerebellar Ataxia Type 3; X-linked Intellectual Disability - Ataxia - Apraxia; X-linked Progressive Cerebellar Ataxia; X-linked Non Progressive Cerebellar Ataxia; X-linked Cerebellar Ataxia; Vitamin B12 Deficiency Ataxia; Toxic Exposure Ataxia; Unclassified Autosomal Dominant Spinocerebellar Ataxia; Thyroid Antibody Ataxia; Sporadic Adult-onset Ataxia of Unknown Etiology; Spinocerebellar Ataxia With Oculomotor Anomaly; Spinocerebellar Ataxia With Epilepsy; Spinocerebellar Ataxia With Axonal Neuropathy Type 2; Spinocerebellar Ataxia Type 8; Spinocerebellar Ataxia Type 7; Spinocerebellar Ataxia Type 6; Spinocerebellar Ataxia Type 5; Spinocerebellar Ataxia Type 4; Spinocerebellar Ataxia Type 37; Spinocerebellar Ataxia Type 36; Spinocerebellar Ataxia Type 35; Spinocerebellar Ataxia Type 34; Spinocerebellar Ataxia Type 32; Spinocerebellar Ataxia Type 31; Spinocerebellar Ataxia Type 30; Spinocerebellar Ataxia Type 3; Spinocerebellar Ataxia Type 29; Spinocerebellar Ataxia Type 28; Spinocerebellar Ataxia Type 27; Spinocerebellar Ataxia Type 26; Spinocerebellar Ataxia Type 25; Spinocerebellar Ataxia Type 23; Spinocerebellar Ataxia Type 22; Spinocerebellar Ataxia Type 21; Spinocerebellar Ataxia Type 20; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 19/22; Spinocerebellar Ataxia Type 18; Spinocerebellar Ataxia Type 17; Spinocerebellar Ataxia Type 16; Spinocerebellar Ataxia Type 15/16; Spinocerebellar Ataxia Type 14; Spinocerebellar Ataxia Type 13; Spinocerebellar Ataxia Type 12; Spinocerebellar Ataxia Type 11; Spinocerebellar Ataxia Type 10; Spinocerebellar Ataxia Type 1 With Axonal Neuropathy; Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia - Unknown; Spinocerebellar Ataxia - Dysmorphism; Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature; Spectrin-associated Autosomal Recessive Cerebellar Ataxia; Spasticity-ataxia-gait Anomalies Syndrome; Spastic Ataxia With Congenital Miosis; Spastic Ataxia - Corneal Dystrophy; Spastic Ataxia; Rare Hereditary Ataxia; Rare Ataxia; Recessive Mitochondrial Ataxia Syndrome; Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature; Posterior Column Ataxia - Retinitis Pigmentosa; Post-Stroke Ataxia; Post-Head Injury Ataxia; Post Vaccination Ataxia; Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract; Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus; Non-progressive Cerebellar Ataxia With Intellectual Disability; Non-hereditary Degenerative Ataxia; Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity; Olivopontocerebellar Atrophy - Deafness; NARP Syndrome; Myoclonus - Cerebellar Ataxia - Deafness; Multiple System Atrophy, Parkinsonian Type; Multiple System Atrophy, Cerebellar Type; Multiple System Atrophy; Maternally-inherited Leigh Syndrome; Machado-Joseph Disease Type 3; Machado-Joseph Disease Type 2; Machado-Joseph Disease Type 1; Lethal Ataxia With Deafness and Optic Atrophy; Leigh Syndrome; Leukoencephalopathy With Mild Cerebellar Ataxia and White Matter Edema; Leukoencephalopathy - Ataxia - Hypodontia - Hypomyelination; Leigh Syndrome With Nephrotic Syndrome; Leigh Syndrome With Leukodystrophy; Leigh Syndrome With Cardiomyopathy; Late-onset Ataxia With Dementia; Intellectual Disability-hyperkinetic Movement-truncal Ataxia Syndrome; Infection or Post Infection Ataxia; Infantile-onset Autosomal Recessive Nonprogressive Cerebellar Ataxia; Infantile Onset Spinocerebellar Ataxia; GAD Ataxia; Hereditary Episodic Ataxia; Gliadin/Gluten Ataxia; Friedreich Ataxia; Fragile X-associated Tremor/Ataxia Syndrome; Familial Paroxysmal Ataxia; Exposure to Medications Ataxia; Episodic Ataxia With Slurred Speech; Episodic Ataxia Unknown Type; Episodic Ataxia Type 7; Episodic Ataxia Type 6; Episodic Ataxia Type 5; Episodic Ataxia Type 4; Episodic Ataxia Type 3; Episodic Ataxia Type 1; Epilepsy and/or Ataxia With Myoclonus as Major Feature; Early-onset Spastic Ataxia-neuropathy Syndrome; Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity; Early-onset Cerebellar Ataxia With Retained Tendon Reflexes; Early-onset Ataxia With Dementia; Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia; Dilated Cardiomyopathy With Ataxia; Cataract - Ataxia - Deafness; Cerebellar Ataxia, Cayman Type; Cerebellar Ataxia With Peripheral Neuropathy; Cerebellar Ataxia - Hypogonadism; Cerebellar Ataxia - Ectodermal Dysplasia; Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss; Brain Tumor Ataxia; Brachydactyly - Nystagmus - Cerebellar Ataxia; Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia; Autosomal Recessive Syndromic Cerebellar Ataxia; Autosomal Recessive Spastic Ataxia With Leukoencephalopathy; Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay; Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria; Autosomal Recessive Spastic Ataxia; Autosomal Recessive Metabolic Cerebellar Ataxia; Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine; Autosomal Recessive Ataxia, Beauce Type; Autosomal Recessive Ataxia Due to Ubiquinone Deficiency; Autosomal Recessive Ataxia Due to PEX10 Deficiency; Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia; Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency; Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency; Autosomal Recessive Congenital Cerebellar Ataxia; Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome; Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency; Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency; Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency; Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome; Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity; Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency; Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect; Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion; Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation; Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness; Autosomal Recessive Cerebellar Ataxia; Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly; Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation; Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy; Autosomal Dominant Spastic Ataxia Type 1; Autosomal Dominant Spastic Ataxia; Autosomal Dominant Optic Atrophy; Ataxia-telangiectasia Variant; Ataxia-telangiectasia; Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy; Autosomal Dominant Cerebellar Ataxia Type 4; Autosomal Dominant Cerebellar Ataxia Type 3; Autosomal Dominant Cerebellar Ataxia Type 2; Autosomal Dominant Cerebellar Ataxia Type 1; Autosomal Dominant Cerebellar Ataxia; Ataxia-telangiectasia-like Disorder; Ataxia-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome; Ataxia-deafness-intellectual Disability Syndrome; Ataxia With Vitamin E Deficiency; Ataxia With Dementia; Ataxia Neuropathy Spectrum; Ataxia - Tapetoretinal Degeneration; Ataxia - Photosensitivity - Short Stature; Ataxia - Pancytopenia; Ataxia - Oculomotor Apraxia Type 1; Ataxia - Hypogonadism - Choroidal Dystrophy; Ataxia - Other; Ataxia - Genetic Diagnosis - Unknown; Acquired Ataxia; Adult-onset Autosomal Recessive Cerebellar Ataxia; Alcohol Related Ataxia; Multiple Endocrine Neoplasia; Multiple Endocrine Neoplasia Type II; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Multiple Endocrine Neoplasia, Type IV; Multiple Endocrine Neoplasia, Type 3; Multiple Endocrine Neoplasia (MEN) Syndrome; Multiple Endocrine Neoplasia Type 2B; Multiple Endocrine Neoplasia Type 2A; Atypical Hemolytic Uremic Syndrome; Atypical HUS; Wiedemann-Steiner Syndrome; Breast Implant-Associated Anaplastic Large Cell Lymphoma; Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA); Hemophagocytic Lymphohistiocytosis; Behcet's Disease; Alagille Syndrome; Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD); Lowe Syndrome; Pitt Hopkins Syndrome; 1p36 Deletion Syndrome; Jansen Type Metaphyseal Chondrodysplasia; Cockayne Syndrome; Chronic Recurrent Multifocal Osteomyelitis; CRMO; Malan Syndrome; Hereditary Sensory and Autonomic Neuropathy Type Ie
Conditions: Rare Disorders; Undiagnosed Disorders; Disorders of Unknown Prevalence; Cornelia De Lange Syndrome; Prenatal Benign Hypophosphatasia; Perinatal Lethal Hypophosphatasia; Odontohypophosphatasia; Adult Hypophosphatasia; Childhood-onset Hypophosphatasia; Infantile Hypophosphatasia; Hypophosphatasia; Kabuki Syndrome; Bohring-Opitz Syndrome; Narcolepsy Without Cataplexy; Narcolepsy-cataplexy; Hypersomnolence Disorder; Idiopathic Hypersomnia Without Long Sleep Time; Idiopathic Hypersomnia With Long Sleep Time; Idiopathic Hypersomnia; Kleine-Levin Syndrome; Kawasaki Disease; Leiomyosarcoma; Leiomyosarcoma of the Corpus Uteri; Leiomyosarcoma of the Cervix Uteri; Leiomyosarcoma of Small Intestine; Acquired Myasthenia Gravis; Addison Disease; Hyperacusis (Hyperacousis); Juvenile Myasthenia Gravis; Transient Neonatal Myasthenia Gravis; Williams Syndrome; Lyme Disease; Myasthenia Gravis; Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome); Isolated Klippel-Feil Syndrome; Frasier Syndrome; Denys-Drash Syndrome; Beckwith-Wiedemann Syndrome; Emanuel Syndrome; Isolated Aniridia; Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11; Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15; Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion; Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication; Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion; Axenfeld-Rieger Syndrome; Aniridia-intellectual Disability Syndrome; Aniridia - Renal Agenesis - Psychomotor Retardation; Aniridia - Ptosis - Intellectual Disability - Familial Obesity; Aniridia - Cerebellar Ataxia - Intellectual Disability; Aniridia - Absent Patella; Aniridia; Peters Anomaly - Cataract; Peters Anomaly; Potocki-Shaffer Syndrome; Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11; Silver-Russell Syndrome Due to Imprinting Defect of 11p15; Silver-Russell Syndrome Due to 11p15 Microduplication; Syndromic Aniridia; WAGR Syndrome; Wolf-Hirschhorn Syndrome; 4p16.3 Microduplication Syndrome; 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome; Autosomal Recessive Stickler Syndrome; Stickler Syndrome Type 2; Stickler Syndrome Type 1; Stickler Syndrome; Mucolipidosis Type 4; X-linked Spinocerebellar Ataxia Type 4; X-linked Spinocerebellar Ataxia Type 3; X-linked Intellectual Disability - Ataxia - Apraxia; X-linked Progressive Cerebellar Ataxia; X-linked Non Progressive Cerebellar Ataxia; X-linked Cerebellar Ataxia; Vitamin B12 Deficiency Ataxia; Toxic Exposure Ataxia; Unclassified Autosomal Dominant Spinocerebellar Ataxia; Thyroid Antibody Ataxia; Sporadic Adult-onset Ataxia of Unknown Etiology; Spinocerebellar Ataxia With Oculomotor Anomaly; Spinocerebellar Ataxia With Epilepsy; Spinocerebellar Ataxia With Axonal Neuropathy Type 2; Spinocerebellar Ataxia Type 8; Spinocerebellar Ataxia Type 7; Spinocerebellar Ataxia Type 6; Spinocerebellar Ataxia Type 5; Spinocerebellar Ataxia Type 4; Spinocerebellar Ataxia Type 37; Spinocerebellar Ataxia Type 36; Spinocerebellar Ataxia Type 35; Spinocerebellar Ataxia Type 34; Spinocerebellar Ataxia Type 32; Spinocerebellar Ataxia Type 31; Spinocerebellar Ataxia Type 30; Spinocerebellar Ataxia Type 3; Spinocerebellar Ataxia Type 29; Spinocerebellar Ataxia Type 28; Spinocerebellar Ataxia Type 27; Spinocerebellar Ataxia Type 26; Spinocerebellar Ataxia Type 25; Spinocerebellar Ataxia Type 23; Spinocerebellar Ataxia Type 22; Spinocerebellar Ataxia Type 21; Spinocerebellar Ataxia Type 20; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 19/22; Spinocerebellar Ataxia Type 18; Spinocerebellar Ataxia Type 17; Spinocerebellar Ataxia Type 16; Spinocerebellar Ataxia Type 15/16; Spinocerebellar Ataxia Type 14; Spinocerebellar Ataxia Type 13; Spinocerebellar Ataxia Type 12; Spinocerebellar Ataxia Type 11; Spinocerebellar Ataxia Type 10; Spinocerebellar Ataxia Type 1 With Axonal Neuropathy; Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia - Unknown; Spinocerebellar Ataxia - Dysmorphism; Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature; Spectrin-associated Autosomal Recessive Cerebellar Ataxia; Spasticity-ataxia-gait Anomalies Syndrome; Spastic Ataxia With Congenital Miosis; Spastic Ataxia - Corneal Dystrophy; Spastic Ataxia; Rare Hereditary Ataxia; Rare Ataxia; Recessive Mitochondrial Ataxia Syndrome; Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature; Posterior Column Ataxia - Retinitis Pigmentosa; Post-Stroke Ataxia; Post-Head Injury Ataxia; Post Vaccination Ataxia; Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract; Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus; Non-progressive Cerebellar Ataxia With Intellectual Disability; Non-hereditary Degenerative Ataxia; Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity; Olivopontocerebellar Atrophy - Deafness; NARP Syndrome; Myoclonus - Cerebellar Ataxia - Deafness; Multiple System Atrophy, Parkinsonian Type; Multiple System Atrophy, Cerebellar Type; Multiple System Atrophy; Maternally-inherited Leigh Syndrome; Machado-Joseph Disease Type 3; Machado-Joseph Disease Type 2; Machado-Joseph Disease Type 1; Lethal Ataxia With Deafness and Optic Atrophy; Leigh Syndrome; Leukoencephalopathy With Mild Cerebellar Ataxia and White Matter Edema; Leukoencephalopathy - Ataxia - Hypodontia - Hypomyelination; Leigh Syndrome With Nephrotic Syndrome; Leigh Syndrome With Leukodystrophy; Leigh Syndrome With Cardiomyopathy; Late-onset Ataxia With Dementia; Intellectual Disability-hyperkinetic Movement-truncal Ataxia Syndrome; Infection or Post Infection Ataxia; Infantile-onset Autosomal Recessive Nonprogressive Cerebellar Ataxia; Infantile Onset Spinocerebellar Ataxia; GAD Ataxia; Hereditary Episodic Ataxia; Gliadin/Gluten Ataxia; Friedreich Ataxia; Fragile X-associated Tremor/Ataxia Syndrome; Familial Paroxysmal Ataxia; Exposure to Medications Ataxia; Episodic Ataxia With Slurred Speech; Episodic Ataxia Unknown Type; Episodic Ataxia Type 7; Episodic Ataxia Type 6; Episodic Ataxia Type 5; Episodic Ataxia Type 4; Episodic Ataxia Type 3; Episodic Ataxia Type 1; Epilepsy and/or Ataxia With Myoclonus as Major Feature; Early-onset Spastic Ataxia-neuropathy Syndrome; Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity; Early-onset Cerebellar Ataxia With Retained Tendon Reflexes; Early-onset Ataxia With Dementia; Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia; Dilated Cardiomyopathy With Ataxia; Cataract - Ataxia - Deafness; Cerebellar Ataxia, Cayman Type; Cerebellar Ataxia With Peripheral Neuropathy; Cerebellar Ataxia - Hypogonadism; Cerebellar Ataxia - Ectodermal Dysplasia; Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss; Brain Tumor Ataxia; Brachydactyly - Nystagmus - Cerebellar Ataxia; Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia; Autosomal Recessive Syndromic Cerebellar Ataxia; Autosomal Recessive Spastic Ataxia With Leukoencephalopathy; Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay; Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria; Autosomal Recessive Spastic Ataxia; Autosomal Recessive Metabolic Cerebellar Ataxia; Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine; Autosomal Recessive Ataxia, Beauce Type; Autosomal Recessive Ataxia Due to Ubiquinone Deficiency; Autosomal Recessive Ataxia Due to PEX10 Deficiency; Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia; Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency; Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency; Autosomal Recessive Congenital Cerebellar Ataxia; Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome; Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency; Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency; Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency; Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome; Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity; Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency; Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect; Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion; Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation; Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness; Autosomal Recessive Cerebellar Ataxia; Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly; Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation; Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy; Autosomal Dominant Spastic Ataxia Type 1; Autosomal Dominant Spastic Ataxia; Autosomal Dominant Optic Atrophy; Ataxia-telangiectasia Variant; Ataxia-telangiectasia; Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy; Autosomal Dominant Cerebellar Ataxia Type 4; Autosomal Dominant Cerebellar Ataxia Type 3; Autosomal Dominant Cerebellar Ataxia Type 2; Autosomal Dominant Cerebellar Ataxia Type 1; Autosomal Dominant Cerebellar Ataxia; Ataxia-telangiectasia-like Disorder; Ataxia-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome; Ataxia-deafness-intellectual Disability Syndrome; Ataxia With Vitamin E Deficiency; Ataxia With Dementia; Ataxia Neuropathy Spectrum; Ataxia - Tapetoretinal Degeneration; Ataxia - Photosensitivity - Short Stature; Ataxia - Pancytopenia; Ataxia - Oculomotor Apraxia Type 1; Ataxia - Hypogonadism - Choroidal Dystrophy; Ataxia - Other; Ataxia - Genetic Diagnosis - Unknown; Acquired Ataxia; Adult-onset Autosomal Recessive Cerebellar Ataxia; Alcohol Related Ataxia; Multiple Endocrine Neoplasia; Multiple Endocrine Neoplasia Type II; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Multiple Endocrine Neoplasia, Type IV; Multiple Endocrine Neoplasia, Type 3; Multiple Endocrine Neoplasia (MEN) Syndrome; Multiple Endocrine Neoplasia Type 2B; Multiple Endocrine Neoplasia Type 2A; Atypical Hemolytic Uremic Syndrome; Atypical HUS; Wiedemann-Steiner Syndrome; Breast Implant-Associated Anaplastic Large Cell Lymphoma; Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA); Hemophagocytic Lymphohistiocytosis; Behcet's Disease; Alagille Syndrome; Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD); Lowe Syndrome; Pitt Hopkins Syndrome; 1p36 Deletion Syndrome; Jansen Type Metaphyseal Chondrodysplasia; Cockayne Syndrome; Chronic Recurrent Multifocal Osteomyelitis; CRMO; Malan Syndrome; Hereditary Sensory and Autonomic Neuropathy Type Ie
March 4, 2019
6
NCT03563677
Recruiting
Recruiting
Dual Guidance Structure for Evaluation of Patients With Unclear Diagnosis in Centers for Rare Diseases
Conditions: Rare Diseases; Orphan Diseases
Intervention: Dual Expert Guidance Structure
Conditions: Rare Diseases; Orphan Diseases
Intervention: Dual Expert Guidance Structure
January 21, 2019
7
NCT03954652
Not yet recruiting
Not yet recruiting
Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"
Conditions: Rare Diseases; Genetic Predisposition
Intervention: WGS-Diagnostic
Conditions: Rare Diseases; Genetic Predisposition
Intervention: WGS-Diagnostic
May 16, 2019
8
NCT02450396
Unknown status
Unknown status
Pregnancy and Medically Assisted Conception in Rare Diseases
Conditions: Rheumatoid Arthritis; Spondyloarthritis; Psoriatic Arthritis; Systemic Lupus Erythematosus; Antiphospholipid Syndrome; Sjogren Syndrome; Scleroderma; Myositis; Vasculitis; Mastocytosis; Various Autoimmune and/or Systemic and/or Rare Diseases
Conditions: Rheumatoid Arthritis; Spondyloarthritis; Psoriatic Arthritis; Systemic Lupus Erythematosus; Antiphospholipid Syndrome; Sjogren Syndrome; Scleroderma; Myositis; Vasculitis; Mastocytosis; Various Autoimmune and/or Systemic and/or Rare Diseases
June 23, 2016
9
NCT02397824
Recruiting
Recruiting
Orodental Manifestations of Rare Diseases
Conditions: Rare Disease Orodontal
Intervention: Salivary And Blood Samples
Conditions: Rare Disease Orodontal
Intervention: Salivary And Blood Samples
December 17, 2015
10
NCT04152876
Not yet recruiting
Not yet recruiting
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
Conditions: Rare Diseases
Conditions: Rare Diseases
November 4, 2019
11
NCT00154388
Completed
Completed
Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases
Conditions: Life Threatening Diseases
Intervention: Imatinib Mesylate
Conditions: Life Threatening Diseases
Intervention: Imatinib Mesylate
November 16, 2016
12
NCT02034630
Recruiting
Recruiting
Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in GRD
Conditions: Genetic Rare Disease
Intervention: Busulfan
Conditions: Genetic Rare Disease
Intervention: Busulfan
April 5, 2019
13
NCT02748044
Completed
Completed
Validation of the Utility of Rare Disease Intelligence Platform
Conditions: Cataract; Artificial Intelligence
Intervention: CC-Cruiser
Conditions: Cataract; Artificial Intelligence
Intervention: CC-Cruiser
April 21, 2016
14
NCT02985710
Recruiting
Recruiting
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Conditions: Small Fiber Neuropathy; Fabry Disease; Ehlers Danlos Syndrome; Mitochondrial Disease
Intervention: Sudoscan, Skin Biopsy, QSART
Conditions: Small Fiber Neuropathy; Fabry Disease; Ehlers Danlos Syndrome; Mitochondrial Disease
Intervention: Sudoscan, Skin Biopsy, QSART
August 14, 2018
15
NCT02588638
Recruiting
Recruiting
Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
Conditions: Movement Disorder; Cognitive Decline
Conditions: Movement Disorder; Cognitive Decline
September 30, 2019
16
NCT01880983
Active, not recruiting
Active, not recruiting
Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))
Conditions: Erythropoietic Protoporphyria (EPP)
Conditions: Erythropoietic Protoporphyria (EPP)
February 18, 2019
17
NCT03199001
Unknown status
Unknown status
Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare Diseases
Conditions: Fabry Disease
Conditions: Fabry Disease
June 23, 2017
18
NCT04046796
Not yet recruiting
Not yet recruiting
Genetic Causes of Discrepant Clinic in Monogenic Twins
Conditions: Rare Diseases; Genetic Predisposition to Disease
Intervention: NGS Diagnostic
Conditions: Rare Diseases; Genetic Predisposition to Disease
Intervention: NGS Diagnostic
August 2, 2019
19
NCT03077308
Recruiting
Recruiting
Rare Diseases Clinical Research Network: Neurophysiological Correlates
Conditions: Rett Syndrome, Preserved Speech Variant; Mecp2 Duplication Syndrome; Rett-related Disorders
Intervention: Auditory And Visual Event-related Potentials And EEG
Conditions: Rett Syndrome, Preserved Speech Variant; Mecp2 Duplication Syndrome; Rett-related Disorders
Intervention: Auditory And Visual Event-related Potentials And EEG
May 2, 2019
20
NCT02365376
Unknown status
Unknown status
Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions
Conditions: Rare Genetic Disorders
Conditions: Rare Genetic Disorders
February 11, 2015
21
NCT01384305
Unknown status
Unknown status
Establish a "Taiwan Rare Disorder Tissue Bank", to Collect and Repost Biological Samples and Disease Information From Patients With Rare Disorders
Conditions: Rare Disorders
Conditions: Rare Disorders
June 28, 2011
22
NCT01875640
Completed
Completed
Decision Support for Parents Receiving Information About Child's Rare Disease
Conditions: Disorder of Sex Development; Intersex Conditions; Congenital Adrenal Hyperplasia; Hypospadias
Conditions: Disorder of Sex Development; Intersex Conditions; Congenital Adrenal Hyperplasia; Hypospadias
February 19, 2018
23
NCT02814747
Completed
Completed
Evaluate and Understand Preferences and Representations in Families of Patients With Regard to High-throughput Sequencing Technology for Diagnostic Purposes
Conditions: Rare Diseases
Intervention: Quantitive Study: 500 Patients Likely To Be Candidates For HTS, Qualitative Study: 30 Patients Who Have Benefited From HTS
Conditions: Rare Diseases
Intervention: Quantitive Study: 500 Patients Likely To Be Candidates For HTS, Qualitative Study: 30 Patients Who Have Benefited From HTS
June 23, 2016
24
NCT00001686
Enrolling by invitation
Enrolling by invitation
Evaluation, Treatment, and Natural History of Children and Young Adults With Cancer or Rare Diseases
Conditions: Ewing's Sarcoma; Leukemia; Lymphoma; Brain Tumors; Rhabdomyosarcoma
Conditions: Ewing's Sarcoma; Leukemia; Lymphoma; Brain Tumors; Rhabdomyosarcoma
January 9, 2020
25
NCT01440218
Enrolling by invitation
Enrolling by invitation
Idiopathic Diseases of Man
Conditions: Rare Disease; Idiopathic Disease
Conditions: Rare Disease; Idiopathic Disease
April 2, 2019
26
NCT02743845
Recruiting
Recruiting
Gene Discovery Core, The Manton Center
Conditions: Undiagnosed Conditions; Rare Disorders; Orphan Diseases
Conditions: Undiagnosed Conditions; Rare Disorders; Orphan Diseases
October 22, 2018
27
NCT02793063
Completed
Completed
Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2
Conditions: Osteogenesis Imperfecta; Brittle Bone Disorders
Intervention: Web-based Survey
Conditions: Osteogenesis Imperfecta; Brittle Bone Disorders
Intervention: Web-based Survey
March 5, 2018
28
NCT03290469
Active, not recruiting
Active, not recruiting
NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants
Conditions: Rare Diseases
Intervention: Clinical Whole Genome Sequencing (cWGS)
Conditions: Rare Diseases
Intervention: Clinical Whole Genome Sequencing (cWGS)
May 9, 2019
29
NCT02432625
Recruiting
Recruiting
BBD Longitudinal Study of Osteogenesis Imperfecta
Conditions: Osteogenesis Imperfecta
Conditions: Osteogenesis Imperfecta
July 26, 2019
30
NCT01209000
Recruiting
Recruiting
Nephrotic Syndrome Study Network
Conditions: Minimal Change Disease (MCD); Membranous Nephropathy; Glomerulosclerosis, Focal Segmental
Intervention: Kidney Biopsy
Conditions: Minimal Change Disease (MCD); Membranous Nephropathy; Glomerulosclerosis, Focal Segmental
Intervention: Kidney Biopsy
November 21, 2019
31
NCT03713151
Recruiting
Recruiting
Feasibility of a Blended Therapy Approach
Conditions: Telemedicine; Exercise; Feasibility; Myositis; Haemophilia
Intervention: Dividat FIT
Conditions: Telemedicine; Exercise; Feasibility; Myositis; Haemophilia
Intervention: Dividat FIT
June 17, 2019
32
NCT04057703
Completed
Completed
Balance Benefit / Risk of Immunomodulatory Treatments at the Child and Adolescent for Autoimmune Cytopenia.
Conditions: Immune Thrombocytopenic Purpura; Autoimmune Hemolytic Anemia; Evan Syndrome; Immunotherapy
Conditions: Immune Thrombocytopenic Purpura; Autoimmune Hemolytic Anemia; Evan Syndrome; Immunotherapy
August 13, 2019
33
NCT01380054
Completed
Completed
Pulmonary Hypertension, Quality of Life and Psychosocial Factors
Conditions: Pulmonary Hypertension
Intervention: Evaluation Of Quality Of Life
Conditions: Pulmonary Hypertension
Intervention: Evaluation Of Quality Of Life
January 4, 2018
34
NCT02938793
Recruiting
Recruiting
Durvalumab in Combination With Tremelimumab in Subjects With Advanced Rare Solid Tumors
Conditions: Cancer; Rare Disease
Intervention: Durvalumab, Tremelimumab
Conditions: Cancer; Rare Disease
Intervention: Durvalumab, Tremelimumab
May 21, 2019
35
NCT03962452
Not yet recruiting
Not yet recruiting
Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
Conditions: Rare Diseases; Genetic Predisposition
Intervention: Next Generation Sequencing (NGS)
Conditions: Rare Diseases; Genetic Predisposition
Intervention: Next Generation Sequencing (NGS)
May 22, 2019
36
NCT03056794
Recruiting
Recruiting
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Conditions: Pyruvate Dehydrogenase Complex Deficiency Disease
Intervention: No Intervention
Conditions: Pyruvate Dehydrogenase Complex Deficiency Disease
Intervention: No Intervention
April 15, 2019
37
NCT03380819
Enrolling by invitation
Enrolling by invitation
The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care
Conditions: Rare Diseases; Genetic Disease
Intervention: Genome Sequencing
Conditions: Rare Diseases; Genetic Disease
Intervention: Genome Sequencing
April 23, 2019
38
NCT02450851
Recruiting
Recruiting
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Conditions: Genetic Disease
Conditions: Genetic Disease
January 14, 2020
39
NCT01087320
Recruiting
Recruiting
Whole Genome Medical Sequencing for Genome Discovery
Conditions: Mental Retardation; Congenital Anomaly; Rare Disorders
Conditions: Mental Retardation; Congenital Anomaly; Rare Disorders
January 16, 2020
40
NCT03854318
Recruiting
Recruiting
Longitudinal Studies of Patient With FPDMM
Conditions: Inherited Hematological Diseases; Rare Diseases; FPDMM
Conditions: Inherited Hematological Diseases; Rare Diseases; FPDMM
January 16, 2020
41
NCT01914172
Completed
Completed
Health Needs of Patients With Kallmann Syndrome
Conditions: Kallmann Syndrome; Congenital Hypogonadotropic Hypogonadism; Idiopathic Hypogonadotropic Hypogonadism
Intervention: Online Questionairres
Conditions: Kallmann Syndrome; Congenital Hypogonadotropic Hypogonadism; Idiopathic Hypogonadotropic Hypogonadism
Intervention: Online Questionairres
September 27, 2017
42
NCT00004306
Completed
Completed
Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)
Conditions: Hereditary Ataxia
Conditions: Hereditary Ataxia
March 5, 2012
43
NCT01694953
Recruiting
Recruiting
The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Conditions: Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Conditions: Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
February 26, 2019
44
NCT02327364
Enrolling by invitation
Enrolling by invitation
Natural History of Pearson Syndrome
Conditions: Pearson Syndrome
Conditions: Pearson Syndrome
February 1, 2019
45
NCT02026388
Recruiting
Recruiting
Rare Kidney Stone Consortium Biobank
Conditions: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria
Conditions: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria
January 17, 2019
46
NCT02365922
Recruiting
Recruiting
Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL)
Conditions: FTLD; Progressive Supranuclear Palsy (PSP); Frontotemporal Dementia (FTD); Corticobasal Degeneration (CBD); PPA Syndrome; Behavioral Variant Frontotemporal Dementia (bvFTD); Semantic Variant Primary Progressive Aphasia (svPPA); Nonfluent Variant Primary Progressive Aphasia (nfvPPA); FTD With Amyotrophic Lateral Sclerosis (FTD/ALS); Amyotrophic Lateral Sclerosis (ALS); Oligosymptomatic PSP (oPSP); Corticobasal Syndrome (CBS)
Conditions: FTLD; Progressive Supranuclear Palsy (PSP); Frontotemporal Dementia (FTD); Corticobasal Degeneration (CBD); PPA Syndrome; Behavioral Variant Frontotemporal Dementia (bvFTD); Semantic Variant Primary Progressive Aphasia (svPPA); Nonfluent Variant Primary Progressive Aphasia (nfvPPA); FTD With Amyotrophic Lateral Sclerosis (FTD/ALS); Amyotrophic Lateral Sclerosis (ALS); Oligosymptomatic PSP (oPSP); Corticobasal Syndrome (CBS)
June 25, 2019
47
NCT01954953
Unknown status
Unknown status
Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
Conditions: Usher Syndrome
Conditions: Usher Syndrome
February 3, 2015
48
NCT02740153
Active, not recruiting
Active, not recruiting
PCORI Urea Cycle Disorder Study
Conditions: Urea Cycle Disorders
Intervention: No Intervention Given
Conditions: Urea Cycle Disorders
Intervention: No Intervention Given
March 29, 2019
49
NCT00428883
Unknown status
Unknown status
High Dose Intravenous N-Acetylcysteine Versus Iloprost for Early, Rapidly Progressive Diffuse Systemic Sclerosis
Conditions: Scleroderma, Diffuse
Intervention: N-acetylcysteine (NAC)
Conditions: Scleroderma, Diffuse
Intervention: N-acetylcysteine (NAC)
January 29, 2007
50
NCT02006134
Recruiting
Recruiting
Pediatric Vasculitis Initiative
Conditions: Wegeners Granulomatosis (Granulomatosis With Polyangiitis); Microscopic Polyangiitis; Churg Strauss Syndrome (Eosinophilic Granulomatosis With Polyangiitis); Polyarteritis Nodosa; Takayasu Arteritis; Primary CNS Vasculitis; Unclassified Vasculitis
Conditions: Wegeners Granulomatosis (Granulomatosis With Polyangiitis); Microscopic Polyangiitis; Churg Strauss Syndrome (Eosinophilic Granulomatosis With Polyangiitis); Polyarteritis Nodosa; Takayasu Arteritis; Primary CNS Vasculitis; Unclassified Vasculitis
May 3, 2018
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 Next Last
Last Updated
The last updated date is the most recent date when changes to a clinical trial were
submitted to ClinicalTrials.gov. There is often a delay of a few days before the
updated trial is available on the clinical trials website.
Specify a From date to find the most recently changed trials. Specify both From and To dates to find trials changed during a certain period. If no dates are given, all trials will be included.
Dates should be given in a MM/DD/YYYY format, as in 1/1/2006 or 8/17/2004.
Specify a From date to find the most recently changed trials. Specify both From and To dates to find trials changed during a certain period. If no dates are given, all trials will be included.
Dates should be given in a MM/DD/YYYY format, as in 1/1/2006 or 8/17/2004.
First Received
The first received date is the date when the clinical trial was first submitted
to ClinicalTrials.gov. There is often a delay of a few days before the
trial is available on the clinical trials website.
Clinical trial records are often updated after they have been published. The first received, last updated, start, and end dates are all displayed in the full text view of the clinical trial.
Specify a From date to find the most recent trials. Specify both From and To dates to find trials submitted during a certain period. If no dates are given, all trials will be included.
Dates should be given in a MM/DD/YYYY format, as in 1/1/2006 or 8/17/2004.
Clinical trial records are often updated after they have been published. The first received, last updated, start, and end dates are all displayed in the full text view of the clinical trial.
Specify a From date to find the most recent trials. Specify both From and To dates to find trials submitted during a certain period. If no dates are given, all trials will be included.
Dates should be given in a MM/DD/YYYY format, as in 1/1/2006 or 8/17/2004.
Safety Issue
If selected, restricts search results to those studies which have
an outcome measure designated as a safety issue. Note that this is a
poor estimate of the safety of a treatment or intervention, but it is
all we have now.
Funded By
Studies are supported by one or more organizations called sponsors.
Support includes contributions of facilities, expertise, and/or financial resources.
All sponsors in the database have been assigned one of the following organization types:
National Institutes of Health (NIH)
Other U.S. Federal Agency - Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDC), Department of Veterans Affairs (VA), etc.
Industry - the pharmaceutical companies
University/Organization - all others, including community-based organizations
Click the check box to the left of each organization type that you wish to include in your search. You can select more than one organization type. If you do not select any type, all types will be included.
National Institutes of Health (NIH)
Other U.S. Federal Agency - Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDC), Department of Veterans Affairs (VA), etc.
Industry - the pharmaceutical companies
University/Organization - all others, including community-based organizations
Click the check box to the left of each organization type that you wish to include in your search. You can select more than one organization type. If you do not select any type, all types will be included.
Study Phase
Click the check box to the left of each study phase that you wish to include in your search. You can select more than one study phase. If you do not select a any phase, all phases will be included.
Most clinical trials are designated as phase 1, 2, 3, or 4, based on the type of questions
that study is seeking to answer:
In Phase 1 (Phase I) clinical trials, researchers test a new drug or treatment in a small group of people (20-80) for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
In Phase 2 (Phase II) clinical trials, the study drug or treatment is given to a larger group of people (100-300) to see if it is effective and to further evaluate its safety.
In Phase 3 (Phase III) clinical trials, the study drug or treatment is given to large groups of people (1,000-3,000) to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
In Phase 4 (Phase IV) clinical trials, post marketing studies delineate additional information including the drug's risks, benefits, and optimal use.
These phases are defined by the Food and Drug Administration in the Code of Federal Regulations.
In Phase 1 (Phase I) clinical trials, researchers test a new drug or treatment in a small group of people (20-80) for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
In Phase 2 (Phase II) clinical trials, the study drug or treatment is given to a larger group of people (100-300) to see if it is effective and to further evaluate its safety.
In Phase 3 (Phase III) clinical trials, the study drug or treatment is given to large groups of people (1,000-3,000) to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
In Phase 4 (Phase IV) clinical trials, post marketing studies delineate additional information including the drug's risks, benefits, and optimal use.
These phases are defined by the Food and Drug Administration in the Code of Federal Regulations.
Click the check box to the left of each study phase that you wish to include in your search. You can select more than one study phase. If you do not select a any phase, all phases will be included.
Age Group
Studies may be designed for participants of particular ages:
Children (birth-17 yrs old)
Adults (18-65 yrs old)
Senior (66+ yrs old)
Click the check box to the left of each age group that you wish to include in your search. You can select more than one age group. If you do not select a any group, all groups will be included.
Children (birth-17 yrs old)
Adults (18-65 yrs old)
Senior (66+ yrs old)
Click the check box to the left of each age group that you wish to include in your search. You can select more than one age group. If you do not select a any group, all groups will be included.
Gender
Searches can be restricted to studies which accept female or male participants.
Location Terms
If you are interested in a specific city (such as Los Angeles) or facility
name (such as the Mayo Clinic), enter it as a location term. Not all studies
include this level of detail, but if they do, this will find them.
Countries and States
Trials are often conducted at many locations around the world.
Select up to three locations to find trials conducted in
specific countries. Some countries (currently limited to the
United States, Canada, and Australia), locations can be narrowed
further by selecting a state.
Study IDs
Each trial is assigned one or more identification numbers by the institute, agency,
or organization sponsoring the trial. In addition, clinical trials assigns a
unique NCT identifier of the form NCTxxxxxxxx where each x is a numeric digit.
Use this box to search for a trial by NCT identifier or any other study
identification numbers.
Examples:
Examples:
NCT00001789
97-h-0197
ia0006
actg 076
97-h-0197
ia0006
actg 076
Sponsor (Lead)
Use this box to specify the name of an institute, organization, or company that is
conducting a trial.
It is common for several organizations to collaborate by providing funding, facilities, experimental treatments, etc. Which organization is considered the sponsor is decided by the data provider.
A search in this area will check only the sponsor field. To also look for collaborators, use the Sponsor/Collaborators search box.
When the Exact Match checkbox is checked, the sponsor name in the study must exactly match the sponsor name in the search. For example, if unchecked, a search for Merck in the lead sponsor field will find Merck, Merck KGaA, Dupont Merck, and Merck Sharp & Dohme. When checked, only Merck, with no other words in the name, will be found.
Examples:
National Cancer Institute
Mayo Clinic
Bristol-Myers Squibb
It is common for several organizations to collaborate by providing funding, facilities, experimental treatments, etc. Which organization is considered the sponsor is decided by the data provider.
A search in this area will check only the sponsor field. To also look for collaborators, use the Sponsor/Collaborators search box.
When the Exact Match checkbox is checked, the sponsor name in the study must exactly match the sponsor name in the search. For example, if unchecked, a search for Merck in the lead sponsor field will find Merck, Merck KGaA, Dupont Merck, and Merck Sharp & Dohme. When checked, only Merck, with no other words in the name, will be found.
Examples:
National Cancer Institute
Mayo Clinic
Bristol-Myers Squibb
Sponsor/Collaborators
Use this box to specify institutes, organizations, or companies that are
conducting or otherwise supporting a trial.
It is common for several organizations to collaborate by providing funding, facilities, experimental treatments, etc. Which organization is considered the sponsor is decided by the data provider.
Searching this area will look in both the sponsor field and in the collaborators field. To only look in the sponsor field, use the Sponsor (Lead) search box.
When the Exact Match checkbox is checked, the name in the study must exactly match the name in the search. For example, if unchecked, a search for Merck will find Merck, Merck KGaA, Dupont Merck, and Merck Sharp & Dohme. When checked, only Merck, with no other words in the name, will be found.
Examples:
National Cancer Institute
Mayo Clinic
Bristol-Myers Squibb
It is common for several organizations to collaborate by providing funding, facilities, experimental treatments, etc. Which organization is considered the sponsor is decided by the data provider.
Searching this area will look in both the sponsor field and in the collaborators field. To only look in the sponsor field, use the Sponsor (Lead) search box.
When the Exact Match checkbox is checked, the name in the study must exactly match the name in the search. For example, if unchecked, a search for Merck will find Merck, Merck KGaA, Dupont Merck, and Merck Sharp & Dohme. When checked, only Merck, with no other words in the name, will be found.
Examples:
National Cancer Institute
Mayo Clinic
Bristol-Myers Squibb
Outcome Measures
Use this box to specify an outcome measure used to evaluate trial results.
Examples:
weight loss
heart failure
suicide
Outcome measures are used to evaluate trial results. For example, an obesity treatment
might be evaluated by a measure of weight loss after 6 months. Measures can also be used
to quantify side effects, such as number of myocardial infarctions,
number of patients with heart arrhythmia, number of suicides, etc.
Use this box to specify an outcome measure used to evaluate trial results.
Examples:
weight loss
heart failure
suicide
Interventions
Use this box to specify drugs, devices, procedures, or vaccines used in a trial.
Examples:
clofibrate
cyclosporine
vitamin e
Interventions refer to the drug, vaccine, procedure, device, or other potential treatment being studied.
Interventions can also include less intrusive possibilities such as surveys, education, and interviews.
Use this box to specify drugs, devices, procedures, or vaccines used in a trial.
Examples:
clofibrate
cyclosporine
vitamin e
Conditions
Use this box to specify the conditions being studied.
Examples:
lupus
heart attack
leukemia
risk factors for breast cancer
Conditions usually refer to a disease, disorder, syndrome, illness, or injury. In ClinicalTrials.gov,
conditions include any health issue worth studying, such as lifespan, quality of life, health risks, etc.
Use this box to specify the conditions being studied.
Examples:
lupus
heart attack
leukemia
risk factors for breast cancer
Study Type
There are three types of studies available in ClinicalTrials.gov:
There are three types of studies available in ClinicalTrials.gov:
Interventional:
Observational:
Expanded Access:
Studies where individuals are assigned to receive specific interventions.
Participants may receive diagnostic, therapeutic or other types of interventions.
Assignment of the intervention may or may not be random.
Individuals are tracked and biomedical and/or health outcomes are assessed.
Observational:
Studies without an intervention.
Studies where biomedical and/or health outcomes are assessed in a pre-defined group of individuals.
Participants may receive diagnostic, therapeutic, or other interventions, but the investigator
does not assign specific interventions to the participants of the study.
Expanded Access:
Records describing the procedure for obtaining an experimental drug or device for patients who
are failing on currently available treatments for their condition and also are unable to
participate in ongoing clinical trials. Expanded Access records are used to register all
types of non-protocol access to experimental treatments, including protocol exception,
single-patient IND, treatment IND, compassionate use, emergency use, continued access and parallel track.
Study Results
Searches can be restricted to studies with or without results.
The inclusion of study results is a relatively new feature of ClinicalTrials.gov. Collection of results began in September of 2008. Almost all older studies and some newer studies do not include results. As time goes on, there will be more results available.
The inclusion of study results is a relatively new feature of ClinicalTrials.gov. Collection of results began in September of 2008. Almost all older studies and some newer studies do not include results. As time goes on, there will be more results available.
Recruitment Status
Also known as Enrollment Status.
Not all clinical trials in this database are accepting new participants. If you are looking for studies that are currently recruiting participants, will be recruiting in the future, or are about drugs that are available for expanded access, select Open Studies in the recruitment menu.
If you are interested in all trials, whether they are recruiting new participants or not, leave the menu with All Studies selected.
Trials may not be recruiting because they are full, completed, or halted for various reasons. In addition, some trials have very restrictive eligibility requirements and must seek participants by invitation only. To see these studies, Select Closed Studies in the recruitment menu.
Full list of all possible recruitment status values:
Open recruitment status values:
Closed recruitment status values:
Values are color coded (as shown) in the search results.
Not all clinical trials in this database are accepting new participants. If you are looking for studies that are currently recruiting participants, will be recruiting in the future, or are about drugs that are available for expanded access, select Open Studies in the recruitment menu.
If you are interested in all trials, whether they are recruiting new participants or not, leave the menu with All Studies selected.
Trials may not be recruiting because they are full, completed, or halted for various reasons. In addition, some trials have very restrictive eligibility requirements and must seek participants by invitation only. To see these studies, Select Closed Studies in the recruitment menu.
Full list of all possible recruitment status values:
Open recruitment status values:
Recruiting,
Not yet recruiting, or
Available for expanded access.
Not yet recruiting, or
Available for expanded access.
Closed recruitment status values:
Active, not recruiting,
Completed,
Terminated,
Suspended,
Withdrawn,
Enrolling by invitation,
Temporarily not available for expanded access,
No longer available for expanded access,
Approved for marketing, or
Unknown.
Completed,
Terminated,
Suspended,
Withdrawn,
Enrolling by invitation,
Temporarily not available for expanded access,
No longer available for expanded access,
Approved for marketing, or
Unknown.
Search Terms
Use this box to specify general search terms found anywhere in the trial record.
Multiple terms can be separated by an AND (all uppercase).
Examples:
type ii diabetes
veterans affairs medical center
heart attacks in older adults
nhlbi AND heart disease
Cisplatin AND safety study
Multiple terms can be separated by an AND (all uppercase).
Examples:
type ii diabetes
veterans affairs medical center
heart attacks in older adults
nhlbi AND heart disease
Cisplatin AND safety study
Help for Searching clinical trials
Help Topics:
Basic Search:
On the Basic Search page, enter a word or word(s) that you want to use to find studies.
These may include diseases, interventions, and/or locations.
Medical terms are often several words long, such as Percutaneous Coronary Intervention. To only find studies where the words are together as a phrase, put the term in quotes (e.g., "Percutaneous Coronary Intervention"). If you search for a multi-word term without quotes, studies with all words together as a phrase will appear higher in the results list than studies where the words are separated and spread throughout the document. For example, a search for Heart Attack will list a study about,
A search for "Heart Attack" would not find the second study. Synonyms are known for some terms and are used where possible. For example, a search for Heart Attack will also find occurrences of Myocardial Infarction.
Medical terms are often several words long, such as Percutaneous Coronary Intervention. To only find studies where the words are together as a phrase, put the term in quotes (e.g., "Percutaneous Coronary Intervention"). If you search for a multi-word term without quotes, studies with all words together as a phrase will appear higher in the results list than studies where the words are separated and spread throughout the document. For example, a search for Heart Attack will list a study about,
Use of a Pacemaker Following a Heart Attack.
higher than the study,
Heart Defects and Transient Ischemic Attacks
A search for "Heart Attack" would not find the second study. Synonyms are known for some terms and are used where possible. For example, a search for Heart Attack will also find occurrences of Myocardial Infarction.
Advanced Search:
Many searches are a single term and can be performed with a few words in the
search box. But, sometimes you need more control. Click on the Advanced Search tab
(if starting a new search) or Refine Search tab (if modifying an existing search)
to show additional search fields.
The additional search fields can be used to limit your search results. Note that it is not necessary to fill in all the fields, only those that are needed for your search. If you are finding too few studies, consider clearing a field and searching again.
Search Terms:
Recruitment:
Interventions:
Outcomes Measures:
Sponsor/Collaborators:
Sponsor (Lead):
Study IDs:
Country/State:
Location Terms:
Gender:
Age Group:
Phase:
Funded By:
Safety Issue:
First Received:
Last Updated:
The additional search fields can be used to limit your search results. Note that it is not necessary to fill in all the fields, only those that are needed for your search. If you are finding too few studies, consider clearing a field and searching again.
Search Terms:
Performs a general search in all sections of the study record, including title,
description, conditions, interventions, locations, etc. Terms in this field are
searched the same as Basic Search.
Recruitment:
Limits search results to studies that are open or closed. New volunteers may be
able to participate in open studies, but not closed studies.
Open recruitment status values:
Closed recruitment status values:
Values are color coded (as shown) in the search results.
Study Results:Open recruitment status values:
Recruiting,
Not yet recruiting, or
Available for expanded access.
Not yet recruiting, or
Available for expanded access.
Closed recruitment status values:
Active, not recruiting,
Completed,
Terminated,
Suspended,
Withdrawn,
Enrolling by invitation,
Temporarily not available for expanded access,
No longer available for expanded access,
Approved for marketing, or
Unknown.
Completed,
Terminated,
Suspended,
Withdrawn,
Enrolling by invitation,
Temporarily not available for expanded access,
No longer available for expanded access,
Approved for marketing, or
Unknown.
Values are color coded (as shown) in the search results.
Limits search results based on whether the study has results or not:
Study Type:
All Studies,
Studies With Results, or
Studies Without Results
The inclusion of Study Results is a new feature of ClinicalTrials.gov.
Only a few studies have results available.Studies With Results, or
Studies Without Results
Limits search results to any of the following study types:
Conditions:
Interventional,
Observational, or
Expanded Access
Observational, or
Expanded Access
Performs a search on fields describing the diseases or conditions being studied.
Interventions:
Performs a search on fields listing the drugs or interventions being studied.
Outcomes Measures:
Performs a search on fields listing the outcome measures used to quantify study results.
Sponsor/Collaborators:
Performs a search on fields listing the sponsor and collaborators of a study.
When the Exact Match checkbox is checked, the sponsor/collaborator name in the study must exactly match the name in the search. For example, if unchecked, a search for Merck in the sponsor/collaborator field will find Merck, Merck KGaA, Dupont Merck, and Merck Sharp & Dohme. When checked, only Merck, with no other words in the name, will be found.
When the Exact Match checkbox is checked, the sponsor/collaborator name in the study must exactly match the name in the search. For example, if unchecked, a search for Merck in the sponsor/collaborator field will find Merck, Merck KGaA, Dupont Merck, and Merck Sharp & Dohme. When checked, only Merck, with no other words in the name, will be found.
Sponsor (Lead):
Performs a search on the sponsor field of a study.
It is common for several organizations to collaborate by providing funding, facilities, experimental treatments, etc. Which organization is considered the "sponsor" is decided by the data provider.
When the Exact Match checkbox is checked, the lead sponsor name in the study must exactly match the lead sponsor name in the search. For example, if unchecked, a search for Merck in the lead sponsor field will find Merck, Merck KGaA, Dupont Merck, and Merck Sharp & Dohme. When checked, only Merck, with no other words in the name, will be found.
It is common for several organizations to collaborate by providing funding, facilities, experimental treatments, etc. Which organization is considered the "sponsor" is decided by the data provider.
When the Exact Match checkbox is checked, the lead sponsor name in the study must exactly match the lead sponsor name in the search. For example, if unchecked, a search for Merck in the lead sponsor field will find Merck, Merck KGaA, Dupont Merck, and Merck Sharp & Dohme. When checked, only Merck, with no other words in the name, will be found.
Study IDs:
Performs a search on fields listing ID numbers.
Country/State:
Trials are often conducted at many locations around the world.
Select up to three locations to find trials conducted in
specific countries. Some countries (currently limited to the
United States, Canada, and Australia), locations can be narrowed
further by selecting a state (e.g., United States, Alabama).
Location Terms:
Finds studies in specific locations such as a city (Los Angeles) or facility (Mayo Clinic).
Not all studies include this level of detail, but if they do, this will find them.
Gender:
Limits search results to those studies that accept female or male participants.
Age Group:
Limits search results to those studies that include at least one of the specified age
ranges. More than one age group can be selected.
Phase:
Limits search results to studies that are labeled with at least one of the specified
phases. More than one Phase can be selected.
Funded By:
Limits search results to studies that have at least one sponsor of the specified types.
More than one sponsor type can be selected.
Safety Issue:
Limits search results to studies that have at least one outcome measure designated as a safety issue.
First Received:
Limits search results to studies that were received by clinical trials within a
specified date range. The "From" or "To" field can be left blank.
Last Updated:
Limits search results to studies that were modified within a
specified date range. The "From" or "To" field can be left blank.
Refine Search:
Searches display a list of studies found (List Results tab). If you are not content with
the search results, click on the Refine Search tab at the top of the list to modify your
search.
Add terms to empty fields to search within your current result. You can also add terms to fields that contain terms. For best results, use an AND (all upper case) as a separator between terms in the same field.
For example:
When you are done making changes, click Search to display the new results.
Add terms to empty fields to search within your current result. You can also add terms to fields that contain terms. For best results, use an AND (all upper case) as a separator between terms in the same field.
For example:
heart attack
heart attack AND aspirin
heart attack AND aspirin AND older adults
heart attack AND aspirin AND older adults AND California
heart attack AND aspirin
heart attack AND aspirin AND older adults
heart attack AND aspirin AND older adults AND California
When you are done making changes, click Search to display the new results.
Search Expressions:
Use AND (all upper case) to find study records that contain all terms connected by AND.
For example:
Use OR (all upper case) to find study records that contain either term connected by OR.
For example:
Use NOT (all upper case) to find study records that do not contain the term following NOT.
For example:
Likewise, AND, OR, NOT, and parentheses can be used to create more complicated search expressions.
For example:
Note that the use of AND and OR as logical operators can be confusing.
An appropriate search for a list such as,
To search for AND as a word, instead of using it as an operator, put it in quotes.
Likewise, you can quote OR, NOT, and parentheses.
For example:
prostate cancer AND radiation
heart disease AND stroke AND California
heart disease AND stroke AND California
Use OR (all upper case) to find study records that contain either term connected by OR.
For example:
Aspirin OR ibuprofen
heart disease OR heart attack
heart disease OR heart attack
Use NOT (all upper case) to find study records that do not contain the term following NOT.
For example:
Immunodeficiency NOT AIDS
Likewise, AND, OR, NOT, and parentheses can be used to create more complicated search expressions.
For example:
prostate cancer AND NOT ( radiation OR homeopathic remedies )
( heart disease OR heart attack ) AND ( stroke OR clot )
( heart disease OR heart attack ) AND ( stroke OR clot )
Note that the use of AND and OR as logical operators can be confusing.
An appropriate search for a list such as,
Ear, Nose, and Throat Conditions
is the expression
( Ear OR Nose OR Throat ) AND Conditions
Fortunately, search will do a pretty good job of finding the right studies either way.To search for AND as a word, instead of using it as an operator, put it in quotes.
Likewise, you can quote OR, NOT, and parentheses.