Coordination of Rare Diseases at Sanford
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Sponsors
Lead Sponsor
Collaborators
National Ataxia Foundation 
, International WAGR Syndrome Association , 4p- Support Group , ML4 Foundation , Cornelia de Lange Syndrome Foundation , Stickler Involved People , Kawasaki Disease Foundation , Klippel-Feil Syndrome Alliance , Klippel-Feil Syndrome Freedom , Hyperacusis Research Limited , Hypersomnia Foundation , Kabuki Syndrome Network , Kleine-Levin Syndrome Foundation , Leiomyosarcoma Direct Research Foundation , Marinesco-Sjogren Syndrome Support Group - NORD , Mucolipidosis Type IV (ML4) Foundation , People with Narcolepsy 4 People with Narcolepsy (PWN4PWN) , Soft Bones Incorporated , American Multiple Endocrine Neoplasia Support , Atypical Hemolytic Uremic Syndrome Foundation , All Things Kabuki , Wiedemann-Steiner Syndrome Foundation , Breast Implant Victim Advocates , PROS Foundation , American Behcet's Disease Association
, International WAGR Syndrome Association , 4p- Support Group , ML4 Foundation , Cornelia de Lange Syndrome Foundation , Stickler Involved People , Kawasaki Disease Foundation , Klippel-Feil Syndrome Alliance , Klippel-Feil Syndrome Freedom , Hyperacusis Research Limited , Hypersomnia Foundation , Kabuki Syndrome Network , Kleine-Levin Syndrome Foundation , Leiomyosarcoma Direct Research Foundation , Marinesco-Sjogren Syndrome Support Group - NORD , Mucolipidosis Type IV (ML4) Foundation , People with Narcolepsy 4 People with Narcolepsy (PWN4PWN) , Soft Bones Incorporated , American Multiple Endocrine Neoplasia Support , Atypical Hemolytic Uremic Syndrome Foundation , All Things Kabuki , Wiedemann-Steiner Syndrome Foundation , Breast Implant Victim Advocates , PROS Foundation , American Behcet's Disease Association Source
Sanford Health
Oversight Info
Has Dmc
No
Brief Summary
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux
Falls, South Dakota. It provides researchers with a centralized, international patient
registry for all rare diseases. This program allows patients and researchers to connect as
easily as possible to help advance treatments and cures for rare diseases. The CoRDS team
works with patient advocacy groups, individuals and researchers to help in the advancement of
research in over 7,000 rare diseases. The registry is free for patients to enroll and
researchers to access. Visit sanfordresearch.org/CoRDS to enroll.
Detailed Description
CoRDS collects contact, sociodemographic and health information about participants. This
information is entered into CoRDS and linked to a unique coded identifier. Below are some
examples of information requested on the Questionnaire that will be entered into CoRDS:
- Contact information: Name, Mailing Address, Phone Number, Email Address
- Sociodemographic information: Date of Birth, Place of Birth, Sex, Gender, Ethnicity
- Health information: Family History, Information related to Diagnosis
De-identified information in CoRDS will be made available to researchers, if they have
obtained approval for their research project from (1) the Institutional Review Board (IRB) at
the researcher's institution and (2) a panel of experts.
A subset of de-identified information collected from each profile may be shared with certain
other databases. This is done in order to help improve understanding of rare diseases, to
avoid the duplication of efforts and to collaborate with existing research efforts with
organizations dedicated to rare diseases.
Participants may elect to have their information shared with patient advocacy groups (PAGs)
representing individuals with rare or uncommon diseases who have partnered with CoRDS. The
PAG will sign an agreement stating that they will not use the information for Research
purposes. CoRDS personnel will not be held responsible for the use of information by the PAG.
The CoRDS Registry will not be paid by Researchers, Other Patient Registries or Patient
Advocacy Groups (PAGs) for access to information in CoRDS.
If a parent/LAR consents on behalf of a minor, CoRDS will contact the participant when he or
she reaches the age of 18 in order to obtain consent. If this consent is not obtained in a
timely manner, the participant will be withdrawn from CoRDS.
CoRDS contacts participants annually to confirm continued interest in participation in CoRDS,
and to request that participants update the information they have provided.
Overall Status
Recruiting
Start Date
2010-07-01
Completion Date
2100-12-01
Primary Completion Date
2100-12-01
Study Type
Observational [Patient Registry]
Primary Outcome
Measure |
Time Frame |
|
To accelerate research into rare disorders by connecting individuals who are interested in research and who have been diagnosed with a rare disorder (or a disorder of unknown prevalence, or who are undiagnosed) with researchers who study rare diseases. |
100 years |
Enrollment
20000
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
, 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 Eligibility
Study Pop
Unaffected carriers, undiagnosed and those with a rare disease or rare condition.
Sampling Method
Non-Probability Sample
Criteria
Inclusion Criteria:
- Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an
unaffected carrier of a rare/uncommon disease
Exclusion Criteria:
- Diagnosis of a disease which is not rare
Gender
All
Minimum Age
N/A
Maximum Age
N/A
Healthy Volunteers
No
Overall Contact
Location
Facility |
Status |
Contact |
Investigator |
|
Sanford Health Sioux Falls South Dakota 57104 United States |
Recruiting |
Last Name: Jill Weimer, PhD Role: Principal Investigator | |
|
Online Patient Enrollment System Sydney Australia |
Recruiting |
Location Countries
Country
Australia
United States
Verification Date
2019-03-01
Lastchanged Date
N/A
Firstreceived Date
N/A
Responsible Party
Responsible Party Type
Sponsor
Keywords
Rare Diseases , Neglected Diseases , Orphan Diseases , Rare Disease Research , Registries , WAGR Syndrome , Ataxia , Cornelia de Lange Syndrome , Stickler Syndrome , Ataxia Telangiectasia , Kawasaki Disease , Batten Disease , Mucolipidosis IV , Klippel-Feil Syndrome , Multiple Endocrine Neoplasia , Atypical Hemolytic Uremic Syndrome , Undiagnosed , Uncommon Disease , Kabuki Syndrome , Hypersomnia , Hyperacusis , Kleine-Levin Syndrome , Marinesco-Sjogren Syndrome , Leiomyosarcoma , 4p-/Wolf-Hirschhorn Syndrome , Hypophosphatasia , Narcolepsy , Wiedermann-Steiner Syndrome , Breast Implant-Associated Anaplastic Large Cell Lymphoma , Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA) , Hemophagocytic Lymphohistiocytosis (HLH) , 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 metaphyseal chondrodysplasia , Cockayne Syndrome , Chronic recurrent multifocal osteomyelitis (CRMO) , Malan syndrome , Hereditary Sensory and Autonomic Neuropathy
, Neglected Diseases , Orphan Diseases , Rare Disease Research , Registries , WAGR Syndrome , Ataxia , Cornelia de Lange Syndrome , Stickler Syndrome , Ataxia Telangiectasia , Kawasaki Disease , Batten Disease , Mucolipidosis IV , Klippel-Feil Syndrome , Multiple Endocrine Neoplasia , Atypical Hemolytic Uremic Syndrome , Undiagnosed , Uncommon Disease , Kabuki Syndrome , Hypersomnia , Hyperacusis , Kleine-Levin Syndrome , Marinesco-Sjogren Syndrome , Leiomyosarcoma , 4p-/Wolf-Hirschhorn Syndrome , Hypophosphatasia , Narcolepsy , Wiedermann-Steiner Syndrome , Breast Implant-Associated Anaplastic Large Cell Lymphoma , Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA) , Hemophagocytic Lymphohistiocytosis (HLH) , 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 metaphyseal chondrodysplasia , Cockayne Syndrome , Chronic recurrent multifocal osteomyelitis (CRMO) , Malan syndrome , Hereditary Sensory and Autonomic Neuropathy Has Expanded Access
No
Condition Browse
Osteomyelitis , Lyme Disease , Lymphoma, Large-Cell, Anaplastic , Leiomyosarcoma , Endocrine Gland Neoplasms , Multiple Endocrine Neoplasia , Multiple Endocrine Neoplasia Type 1 , Multiple Endocrine Neoplasia Type 2a , WAGR Syndrome , Multiple Endocrine Neoplasia Type 2b , Denys-Drash Syndrome , Muscle Spasticity , Muscular Diseases , Sjogren's Syndrome , Muscle Weakness , Mucolipidoses , Cockayne Syndrome , Craniofacial Abnormalities , Osteochondrodysplasias , Arthritis , Silver-Russell Syndrome , Klippel-Feil Syndrome , Brachydactyly , Alagille Syndrome , Behcet Syndrome , Anodontia , Hearing Loss , Deafness , Hearing Loss, Sensorineural , Hyperacusis , Dementia , Epilepsy , Peripheral Nervous System Diseases , Ataxia , Cerebellar Ataxia , Muscular Atrophy , Polyneuropathies , Myasthenia Gravis , Craniocerebral Trauma , Intellectual Disability , Spinocerebellar Ataxias , Spinocerebellar Degenerations , Narcolepsy , Frontotemporal Dementia , Aphasia, Primary Progressive , Pick Disease of the Brain , Multiple System Atrophy , Shy-Drager Syndrome , Friedreich Ataxia , Blindness , Apraxias , Disorders of Excessive Somnolence , Leukoencephalopathies , Ataxia Telangiectasia , Cataplexy , Myoclonus , Nystagmus, Pathologic , Dysarthria , Williams Syndrome , Optic Atrophy , Hypersomnolence, Idiopathic , Leigh Disease , Machado-Joseph Disease , Oculocerebrorenal Syndrome , Hereditary Sensory and Autonomic Neuropathies , Hyperkinesis , Cogan Syndrome , De Lange Syndrome , Optic Atrophy, Autosomal Dominant , Kleine-Levin Syndrome , Olivopontocerebellar Atrophies , Myasthenia Gravis, Neonatal , Cataract , Retinitis , Retinitis Pigmentosa , Aniridia , Eye Diseases, Hereditary , Retinal Detachment , Corneal Opacity , Eye Abnormalities , Nephrotic Syndrome , Nephrosis , Hemolytic-Uremic Syndrome , Atypical Hemolytic Uremic Syndrome , Frasier Syndrome , Cardiomyopathies , Telangiectasis , Cardiomyopathy, Dilated , Mucocutaneous Lymph Node Syndrome , Lymphohistiocytosis, Hemophagocytic , Pancytopenia , Congenital Abnormalities , Hypophosphatasia , Ectodermal Dysplasia , Beckwith-Wiedemann Syndrome , Wolf-Hirschhorn Syndrome , Connective Tissue Diseases , Vitamin B 12 Deficiency , Vitamin E Deficiency , Hypogonadism , Addison Disease , Disease , Syndrome , Atrophy , Rare Diseases , Hemolysis , Nerve Degeneration , Channelopathies , Uniparental Disomy , Neoplasms
, Lyme Disease , Lymphoma, Large-Cell, Anaplastic , Leiomyosarcoma , Endocrine Gland Neoplasms , Multiple Endocrine Neoplasia , Multiple Endocrine Neoplasia Type 1 , Multiple Endocrine Neoplasia Type 2a , WAGR Syndrome , Multiple Endocrine Neoplasia Type 2b , Denys-Drash Syndrome , Muscle Spasticity , Muscular Diseases , Sjogren's Syndrome , Muscle Weakness , Mucolipidoses , Cockayne Syndrome , Craniofacial Abnormalities , Osteochondrodysplasias , Arthritis , Silver-Russell Syndrome , Klippel-Feil Syndrome , Brachydactyly , Alagille Syndrome , Behcet Syndrome , Anodontia , Hearing Loss , Deafness , Hearing Loss, Sensorineural , Hyperacusis , Dementia , Epilepsy , Peripheral Nervous System Diseases , Ataxia , Cerebellar Ataxia , Muscular Atrophy , Polyneuropathies , Myasthenia Gravis , Craniocerebral Trauma , Intellectual Disability , Spinocerebellar Ataxias , Spinocerebellar Degenerations , Narcolepsy , Frontotemporal Dementia , Aphasia, Primary Progressive , Pick Disease of the Brain , Multiple System Atrophy , Shy-Drager Syndrome , Friedreich Ataxia , Blindness , Apraxias , Disorders of Excessive Somnolence , Leukoencephalopathies , Ataxia Telangiectasia , Cataplexy , Myoclonus , Nystagmus, Pathologic , Dysarthria , Williams Syndrome , Optic Atrophy , Hypersomnolence, Idiopathic , Leigh Disease , Machado-Joseph Disease , Oculocerebrorenal Syndrome , Hereditary Sensory and Autonomic Neuropathies , Hyperkinesis , Cogan Syndrome , De Lange Syndrome , Optic Atrophy, Autosomal Dominant , Kleine-Levin Syndrome , Olivopontocerebellar Atrophies , Myasthenia Gravis, Neonatal , Cataract , Retinitis , Retinitis Pigmentosa , Aniridia , Eye Diseases, Hereditary , Retinal Detachment , Corneal Opacity , Eye Abnormalities , Nephrotic Syndrome , Nephrosis , Hemolytic-Uremic Syndrome , Atypical Hemolytic Uremic Syndrome , Frasier Syndrome , Cardiomyopathies , Telangiectasis , Cardiomyopathy, Dilated , Mucocutaneous Lymph Node Syndrome , Lymphohistiocytosis, Hemophagocytic , Pancytopenia , Congenital Abnormalities , Hypophosphatasia , Ectodermal Dysplasia , Beckwith-Wiedemann Syndrome , Wolf-Hirschhorn Syndrome , Connective Tissue Diseases , Vitamin B 12 Deficiency , Vitamin E Deficiency , Hypogonadism , Addison Disease , Disease , Syndrome , Atrophy , Rare Diseases , Hemolysis , Nerve Degeneration , Channelopathies , Uniparental Disomy , Neoplasms Secondary Id
Hypersomnia Foundation
National Ataxia Foundation
4p- Support Group
CdLS Foundation
Hyperacusis Research Limited
Kabuki Syndrome Network
Kawasaki Disease Foundation
Klippel-Feil Syndrome Freedom
Leiomyosarcoma Direct Research
MSS Support Group
ML4 Foundation
Stickler Involved People
IWSA
Soft Bones
PWN4PWN
aHUS
Klippel-Feil Syndrome Alliance
American MEN Support
Kleine-Levin Syndrome
All Things Kabuki
WSS Foundation
BIVA
ABDA
PROS Foundation (HLH)
Alagille Syndrome Association
Cure VCP Disease, Inc.
Lowe Syndrome Association
Pitt Hopkins
Cure Batten Disease
Hypnic Jerk/Sleep Myoclonus
1p36 DSA
Jansen Foundation
Share and Care Network
CRMO
The Malan Syndrome Foundation
HSAN1E Society
Firstreceived Results Date
N/A
Biospec Retention
None Retained
Biospec Descr
Biospecimen collection capability anticipated in 2014.
Acronym
CoRDS
Target Duration
100 Years
Patient Data
Sharing Ipd
Yes
Ipd Description
Deidentified participant data is shared with contracted patient advocacy groups for non-research purposes. Parties interested in accessing data are welcome to apply (cost-free) at http://www.sanfordresearch.org/cords/researchers/.
Firstreceived Results Disposition Date
N/A
Study Design Info
Observational Model
Case-Only
Time Perspective
Prospective
Study First Submitted
February 13, 2013
Study First Submitted Qc
February 13, 2013
Study First Posted
February 15, 2013
Last Update Submitted
March 4, 2019
Last Update Submitted Qc
March 4, 2019
Last Update Posted
March 6, 2019
ClinicalTrials.gov processed this data on November 22, 2019
Conditions
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.
Interventions
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.
Study Phase
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.