Clinical Trials on Rare+Disorders

Total 502 results





    • NCT02285582
      Recruiting
      Conditions: Rare Histiocytic Disorders (RHDs); Juvenile Xanthogranuloma (JXG); Reticulohistiocytoma (Epithelioid Histiocytoma); Xanthoma Disseminatum (XD); Multicentric Reticulohistiocytosis (MRH); Systemic Juvenile Xanthogranuloma; Erdheim-Chester Disease (ECD); Multi-system Rosai-Dorfman Disease (RDD)
    • NCT02257892
      Recruiting
      Conditions: PI3KCD; CTLA4; STAT3GOF; MAGT1
    • NCT02234024
      Enrolling by invitation
      Conditions: GM3 Synthase Deficiency
    • NCT02177331
      Completed
      Conditions: Hypertension
    • NCT02141308
      Recruiting
      Conditions: Retinal Artery Occlusions; Polypoidal Choroidal Vasculopathy; Retinal Arterial Macroaneurysm; Juxtafoveal Telangiecasia; Central Serous Chorioretinopathy
    • NCT02124395
      Recruiting
      Conditions: Primary Hyperoxaluria; Cystinuria; Adenine Phosphoribosyl Transferase Deficiency; Dent Disease
    • NCT02116764
      Enrolling by invitation
      Conditions: Chronic Granulomatous Disease
    • NCT02067754
      Completed
      Conditions: Gastric Cancer
    • NCT02061020
      Completed
      Conditions: Occasional (1-2 Joints Per Week) and Chronic (1-2 Joints Per Day) Cannabis Users
    • NCT02034630
      Unknown status
      Conditions: Genetic Rare Disease
    • NCT02026388
      Recruiting
      Conditions: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria
    • NCT02006134
      Unknown status
      Conditions: Wegeners Granulomatosis (Granulomatosis With Polyangiitis); Microscopic Polyangiitis; Churg Strauss Syndrome (Eosinophilic Granulomatosis With Polyangiitis); Polyarteritis Nodosa; Takayasu Arteritis; Primary CNS Vasculitis; Unclassified Vasculitis
    • NCT02006940
      Unknown status
      Conditions: Inflammatory, Interstitial, Rare Lung Diseases
    • NCT01998750
      Recruiting
      Conditions: Obesity
    • NCT01954953
      Unknown status
      Conditions: Usher Syndrome
    • NCT01954225
      Completed
      Conditions: Fistula in Ano
    • NCT01952275
      Unknown status
      Conditions: Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue; Pyoderma Gangrenosum; Erosive Pustular Dermatosis of the Scalp; Sweet's Syndrome; Behcet's Disease; Bowel-associated Dermatosis-arthritis Syndrome; Pustular Psoriasis; Acute Generalized Exanthematous Pustulosis; Keratoderma Blenorrhagicum; Sneddon-Wilkinson Disease; IgA Pemphigus; Amicrobial Pustulosis of the Folds; Infantile Acropustulosis; Transient Neonatal Pustulosis; Neutrophilic Eccrine Hidradenitis; Rheumatoid Neutrophilic Dermatitis; Neutrophilic Urticaria; Still's Disease; Erythema Marginatum; Unclassified Periodic Fever Syndromes / Autoinflammatory Syndromes; Dermatitis Herpetiformis; Linear IgA Bullous Dermatosis; Bullous Systemic Lupus Erythematosus; Inflammatory Epidermolysis Bullosa Aquisita; Neutrophilic Dermatosis of the Dorsal Hands (Pustular Vasculitis); Small Vessel Vasculitis Including Urticarial Vasculitis; Erythema Elevatum Diutinum; Medium Vessel Vasculitis
    • NCT01938014
      Completed
      Conditions: Mucopolysaccharidosis Type I (MPS I); Mucopolysaccharidosis Type II (MPS II); Mucopolysaccharidosis Type III (MPS III); Mucopolysaccharidosis Type VI (MPS VI); Krabbe Disease
    • NCT01914172
      Completed
      Conditions: Kallmann Syndrome; Congenital Hypogonadotropic Hypogonadism; Idiopathic Hypogonadotropic Hypogonadism
    • NCT01908816
      Completed
      Conditions: Choroidal Neovascularization; Macular Edema; Glaucoma, Neovascular; Diabetic Retinopathy
    • NCT01894165
      Completed
      Conditions: Molybdenum Cofactor Deficiency (MoCD); Rare Autosomal Recessive Disorder; Deficiency of Activity of Molybdenum-dependent Enzymes (Sulfite Oxidase [SOX], Xanthine Dehydrogenase, and Aldehyde Oxidase)
    • NCT01880983
      Active, not recruiting
      Conditions: Erythropoietic Protoporphyria (EPP)
    • NCT01875640
      Completed
      Conditions: Disorder of Sex Development; Intersex Conditions; Congenital Adrenal Hyperplasia; Hypospadias
    • NCT01856218
      Completed
      Conditions: Mucopolysaccharidosis Type 7
    • NCT01854294
      Completed
      Conditions: Amyotrophic Lateral Sclerosis
    • NCT01824121
      Unknown status
      Conditions: Progressive Supranuclear Palsy
    • NCT01793168
      Recruiting
      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; 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; 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-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; Leigh Syndrome; Late-onset Ataxia With Dementia; Infection or Post Infection 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 With Vitamin E Deficiency; Ataxia With Dementia; Ataxia - Oculomotor Apraxia Type 1; 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; VCP Disease; Hypnic Jerking; Sleep Myoclonus; Mollaret Meningitis; Recurrent Viral Meningitis; CRB1; Leber Congenital Amaurosis; Retinitis Pigmentosa; Rare Retinal Disorder; KCNMA1-Channelopathy; Primary Biliary Cirrhosis; ZMYND11; Transient Global Amnesia; Glycogen Storage Disease; Alstrom Syndrome; White Sutton Syndrome; DNM1; EIEE31; Myhre Syndrome; Recurrent Respiratory Papillomatosis; Laryngeal Papillomatosis; Tracheal Papillomatosis; Refsum Disease; Nicolaides Baraitser Syndrome; Leukodystrophy
    • NCT01784679
      Completed
      Conditions: Hereditary Inclusion Body Myopathy; GNE Myopathy; Nonaka Disease; Quadriceps Sparing Myopathy (QSM); Distal Myopathy With Rimmed Vacuoles (DMRV)
    • NCT01761292
      Completed
      Conditions: Duchenne Muscular Dystrophy (DMD)
    • NCT01694953
      Recruiting
      Conditions: Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
    • NCT01623076
      Recruiting
      Conditions: Neuromyelitis Optica; Neuromyelitis Optica Spectrum Disorder; Transverse Myelitis; Optic Neuritis
    • NCT01573754
      Recruiting
      Conditions: Porphyria Cutanea Tarda
    • NCT01541813
      Terminated
      Conditions: Rare Iron Overloads Except C282Y Homozygosity
    • NCT01440218
      Enrolling by invitation
      Conditions: Rare Disease; Idiopathic Disease
    • NCT01414985
      Completed
      Conditions: Late Infantile Neuronal Ceroid Lipofuscinosis; Batten Disease
    • NCT01384305
      Unknown status
      Conditions: Rare Disorders
    • NCT01380054
      Completed
      Conditions: Pulmonary Hypertension
    • NCT01375543
      Completed
      Conditions: Genetic Predisposition
    • NCT01304043
      Completed
      Conditions: Ovarian Tumors
    • NCT01264055
      Completed
      Conditions: Infection; Bronchial Diseases; Respiratory Tract Diseases
    • NCT01250951
      Completed
      Conditions: Myelodysplastic Syndrome; Thalassemia
    • NCT01235624
      Completed
      Conditions: Autosomal Dominant Retinitis Pigmentosa
    • NCT01209000
      Recruiting
      Conditions: Minimal Change Disease (MCD); Membranous Nephropathy; Glomerulosclerosis, Focal Segmental
    • NCT01143454
      Recruiting
      Conditions: Cardiomyopathy; Li-Fraumeni Syndrome; Parkinson's Disease; Atherosclerosis; Cardiovascular Capacity
    • NCT01119586
      Completed
      Conditions: Leukemia
    • NCT01087320
      Recruiting
      Conditions: Mental Retardation; Congenital Anomaly; Rare Disorders
    • NCT01048892
      Completed
      Conditions: Adrenocortical Carcinoma; Gastrointestinal Carcinoid Tumor; Kidney Cancer; Neuroblastoma; Retinoblastoma; Sarcoma
    • NCT01000753
      Active, not recruiting
      Conditions: Adult Immunoblastic Lymphoma; Central Nervous System Non-Hodgkin Lymphoma; Childhood Immunoblastic Lymphoma; Grade 1 Follicular Lymphoma; Grade 2 Follicular Lymphoma; Grade 3 Follicular Lymphoma; Lymphoproliferative Disorder; Mantle Cell Lymphoma; Marginal Zone Lymphoma; Non-Hodgkin Lymphoma; Primary Cutaneous B-Cell Non-Hodgkin Lymphoma; Primary Cutaneous T-Cell Non-Hodgkin Lymphoma; Small Lymphocytic Lymphoma
    • NCT00960609
      Completed
      Conditions: Liver Tumors
    • NCT00958841
      Terminated
      Conditions: Pancreatic Neoplasm; Pituitary Neoplasm; Nelson Syndrome; Ectopic ACTH Syndrome