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Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2016 by Sanford Health
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
Mucolipidosis Type IV Foundation
People with Narcolepsy 4 People with Narcolepsy (PWN4PWN)
Soft Bones Incorporated
Information provided by (Responsible Party):
Sanford Health
ClinicalTrials.gov Identifier:
NCT01793168
First received: February 13, 2013
Last updated: September 1, 2016
Last verified: September 2016
  Purpose
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.

Condition
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

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration: 100 Years
Official Title: Coordination of Rare Diseases at Sanford

Resource links provided by NLM:

Genetics Home Reference related topics: Axenfeld-Rieger syndrome Beckwith-Wiedemann syndrome Bohring-Opitz syndrome CASK-related intellectual disability Cornelia de Lange syndrome Denys-Drash syndrome Emanuel syndrome Frasier syndrome Gillespie syndrome Kawasaki disease Klippel-Feil syndrome Leigh syndrome Peters anomaly Potocki-Shaffer syndrome Russell-Silver syndrome SYNGAP1-related intellectual disability Silver syndrome Sjögren syndrome Stickler syndrome VLDLR-associated cerebellar hypoplasia WAGR syndrome Wolf-Hirschhorn syndrome aniridia ataxia with vitamin E deficiency ataxia-telangiectasia autosomal recessive cerebellar ataxia type 1 autosomal recessive spastic ataxia of Charlevoix-Saguenay episodic ataxia familial dilated cardiomyopathy hypophosphatasia infantile-onset spinocerebellar ataxia mucolipidosis type IV multiple system atrophy myasthenia gravis narcolepsy nonsyndromic hearing loss optic atrophy type 1 primary coenzyme Q10 deficiency pyridoxal 5'-phosphate-dependent epilepsy retinitis pigmentosa spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spinocerebellar ataxia type 3 spinocerebellar ataxia type 36 spinocerebellar ataxia type 6
MedlinePlus related topics: Rare Diseases
Genetic and Rare Diseases Information Center resources: Myasthenia Gravis Apraxia Retinitis Pigmentosa Cone-rod Dystrophy Cone-rod Dystrophy 2 Leigh Syndrome Dilated Cardiomyopathy Leiomyosarcoma Friedreich Ataxia Multiple System Atrophy Spinocerebellar Ataxia Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 1 Cogan's Syndrome Spinocerebellar Ataxia 3 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Cornelia De Lange Syndrome Potter Syndrome Renal Agenesis Kawasaki Disease Leukodystrophy Narcolepsy Spinocerebellar Ataxia Type 6 Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 8 Aniridia Idiopathic Hypersomnia Ectodermal Dysplasia Ataxia Telangiectasia Williams Syndrome Hypophosphatasia Neuronal Ceroid Lipofuscinosis Kleine Levin Syndrome Mucolipidosis Type 4 Addison's Disease Beckwith-Wiedemann Syndrome Fetal Thalidomide Syndrome Russell-Silver Syndrome Diencephalic Syndrome Episodic Ataxia WAGR Syndrome Dominant Optic Atrophy Optic Atrophy 1 Autosomal Dominant Cerebellar Ataxia Hereditary Ataxia Stickler Syndrome Kabuki Syndrome Hyperacusis Ataxia - Hypogonadism - Choroidal Dystrophy Ataxia With Vitamin E Deficiency Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy Spinocerebellar Ataxia Autosomal Recessive 3 Coenzyme Q10 Deficiency Autosomal Recessive Spinocerebellar Ataxia 9 Autosomal Recessive Spastic Ataxia 4 Spastic Ataxia Charlevoix-Saguenay Type Biemond Syndrome Cerebellar Ataxia Ectodermal Dysplasia Cerebellar Ataxia and Hypogonadotropic Hypogonadism DCMA Syndrome Spinocerebellar Ataxia Autosomal Recessive 7 Infantile Onset Spinocerebellar Ataxia Arts Syndrome Mitochondrial DNA-associated Leigh Syndrome Neuropathy Ataxia Retinitis Pigmentosa Syndrome Posterior Column Ataxia Microcoria, Congenital Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17 Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 29 Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 5 Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy Stickler Syndrome Type 1 Stickler Syndrome, Type 2 Wolf-Hirschhorn Syndrome Potocki-Shaffer Syndrome Absent Patella Aniridia - Ptosis - Intellectual Disability - Familial Obesity Axenfeld-Rieger Syndrome Emanuel Syndrome Klippel Feil Syndrome Bohring-Opitz Syndrome Childhood Hypophosphatasia Denys-Drash Syndrome Peters Anomaly Olivopontocerebellar Atrophy Thomas Syndrome Spinocerebellar Ataxia 4 Uniparental Disomy of Chromosome 11 Frasier Syndrome Marinesco-Sjogren Syndrome Mucopolysaccharidosis Type IV Paraplegia Anodontia Soft Tissue Sarcoma Ocular Motility Disorders Motor Neuro-ophthalmic Disorders Aortic Valve Stenosis Hypoadrenalism Uveal Diseases Wilms' Tumor Perlman Syndrome Charcot-Marie-Tooth Disease Hereditary Neuropathy With Liability to Pressure Palsy Roussy Levy Syndrome
U.S. FDA Resources

Further study details as provided by Sanford Health:

Primary Outcome Measures:
  • 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. [ Time Frame: 100 years ]

Biospecimen Retention:   None Retained
Biospecimen collection capability anticipated in 2014.

Estimated Enrollment: 10000
Study Start Date: July 2010
Estimated Primary Completion Date: December 2100 (Final data collection date for primary outcome measure)
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 led by Dr. David A. Pearce.

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. Dr. David A. Pearce and 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.

  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
English speakers, globally
Criteria

Inclusion Criteria:

  • Diagnosis of a rare disease, a disease of unknown prevalence, or undiagnosed
  • Must be fluent in English

Exclusion Criteria:

  • Does not speak English
  • Is a ward of the state
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01793168

Contacts
Contact: Jeremy Morgan 1-877-658-9192 cords@sanfordhealth.org

Locations
United States, South Dakota
Sanford Health Recruiting
Sioux Falls, South Dakota, United States, 57104
Principal Investigator: Jeremy Morgan, MS         
Sponsors and Collaborators
Sanford Health
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
Mucolipidosis Type IV Foundation
People with Narcolepsy 4 People with Narcolepsy (PWN4PWN)
Soft Bones Incorporated
Investigators
Principal Investigator: Jeremy Morgan Sanford Health
  More Information

Additional Information:
Responsible Party: Sanford Health
ClinicalTrials.gov Identifier: NCT01793168     History of Changes
Other Study ID Numbers: 03-10-014
Hypersomnia Foundation ( Registry Identifier: Hypersomnia Registry )
National Ataxia Foundation ( Registry Identifier: Ataxia Registry )
4p- Support Group ( Registry Identifier: 4p-/Wolfhirschhorn Syndrome Registry )
CdLS Foundation ( Registry Identifier: Cornelia de Lange Syndrome Registry )
Hyperacusis Research Limited ( Registry Identifier: Hyperacusis Registry )
Kabuki Syndrome Network ( Registry Identifier: Kabuki Syndrome Registry )
Kawasaki Disease Foundation ( Registry Identifier: Kawasaki Disease Registry )
Klippel-Feil Syndrome Freedom ( Registry Identifier: Klippel-Feil Syndrome Registry )
Leiomyosarcoma Direct Research ( Registry Identifier: Leiomyosarcoma Registry )
MSS Support Group ( Registry Identifier: Marinesco-Sjogren Syndrome Registry )
ML4 Foundation ( Registry Identifier: Mucolipidosis Type IV (ML4) Registry )
Stickler Involved People ( Registry Identifier: Stickler Syndrome Registry )
IWSA ( Registry Identifier: WAGR Syndrome Registry )
Soft Bones ( Registry Identifier: Hypophosphatasia Registry )
PWN4PWN ( Registry Identifier: Narcolepsy Registry )
Study First Received: February 13, 2013
Last Updated: September 1, 2016
Individual Participant Data  
Plan to Share IPD: Yes
Plan 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/.

Keywords provided by Sanford Health:
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

Additional relevant MeSH terms:
Disease
Syndrome
Diabetes Mellitus
Epilepsy
Dementia
Peripheral Nervous System Diseases
Cataract
Cardiomyopathies
Atrophy
Muscle Spasticity
Hearing Loss
Deafness
Ataxia
Cerebellar Ataxia
Hypogonadism
Retinitis
Polyneuropathies
Muscular Atrophy
Sjogren's Syndrome
Retinitis Pigmentosa
Telangiectasis
Cardiomyopathy, Dilated
Leiomyosarcoma
Congenital Abnormalities
Nephrotic Syndrome
Nephrosis
Craniocerebral Trauma
Rare Diseases
Leukoencephalopathies
Lyme Disease

ClinicalTrials.gov processed this record on May 25, 2017