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

History of Changes

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

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

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:

CoRDS homepage This link exits the ClinicalTrials.gov site

CoRDS Registry Screening Form This link exits the ClinicalTrials.gov site


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 (IPD) Sharing Statement:
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 Rare Diseases Sjogren's Syndrome Polyneuropathies Muscular Atrophy Retinitis Pigmentosa Telangiectasis Cardiomyopathy, Dilated Leiomyosarcoma Congenital Abnormalities Nephrotic Syndrome Nephrosis Craniocerebral Trauma Muscle Weakness Myasthenia Gravis

ClinicalTrials.gov processed this record on September 21, 2017

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