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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.

ClinicalTrials.gov Identifier: NCT01793168

Recruitment Status : Recruiting

First Posted : February 15, 2013

Last Update Posted : December 10, 2020

See Contacts and Locations

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

Alstrom United Kingdom

Athymia

Curing Retinal Blindness Foundation

HSAN1E Society

1p36 Deletion Support and Awareness

The Alagille Syndrome Alliance

Autoinflammatory Alliance

Beyond Batten

Bohring-Opitz Syndrome Foundation, INC

Cockayne Syndrome Network (Share and Care)

CRMO Foundation

Cure VCP Disease,INC

FOD Support

Cystinosis Research Foundation

Global DARE Foundation

Hypnic Jerk-Sleep Myoclonus Support Group

Jansen's Foundation

KCNMA1 Channelopathy International Advocacy Foundation

Kawasaki Disease Foundation Australia

Life with LEMS Foundation

Lowe Syndrome Association

The Malan Syndrome Foundation

Maple Syrup Urine Disease Family Support Group

International Association for Muscle Glycogen Storage Disease (IamGSD)

Myhre Syndrome Foundation

DNM1 Families

Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation

The PBCers Organization

Pitt Hopkins Research Foundation

Progressive Familial Intrahepatic Cholestasis Advocacy and Resource Network, Inc

Recurrent Meningitis Association

Recurrent Respiratory Papillomatosis Foundation

Remember the Girls

Smith-Kingsmore Syndrome Foundation

SPG Research Foundation

Team Telomere

Transient Global Amnesia Project

The Charlotte & Gwenyth Gray Foundation

The Cute Syndrome Foundation

The Maddi Foundation

White Sutton Syndrome Foundation

Zmynd11 Gene Disorder

Cauda Equina Foundation, Inc

Tango2 Research Foundation

Noah's Hope - Hope4Bridget Foundation

Project Sebastian

SMC1A Epilepsy Foundation

International Foundation for Gastrointestinal Disorders

Endosalpingiosis Foundation, Inc

International Sacral Agenesis/Caudal Regression Association (ISACRA)

Scheuermann's Disease Fund

Information provided by (Responsible Party):

Sanford Health

Study Description

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.

Condition or disease
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 Tango2 Cauda Equina Syndrome Rare Gastrointestinal Disorders Achalasia-Addisonian Syndrome Achalasia Cardia Achalasia Icrocephaly Syndrome Anal Fistula Congenital Sucrase-Isomaltase Deficiency Eosinophilic Gastroenteritis Idiopathic Gastroparesis Hirschsprung Disease Rare Inflammatory Bowel Disease Intestinal Pseudo-Obstruction Scleroderma Short Bowel Syndrome Sacral Agenesis Sacral Agenesis Syndrome Caudal Regression Scheuermann Disease SMC1A Loss of Function Epilepsy

Condition or disease

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 Tango2 Cauda Equina Syndrome Rare Gastrointestinal Disorders Achalasia-Addisonian Syndrome Achalasia Cardia Achalasia Icrocephaly Syndrome Anal Fistula Congenital Sucrase-Isomaltase Deficiency Eosinophilic Gastroenteritis Idiopathic Gastroparesis Hirschsprung Disease Rare Inflammatory Bowel Disease Intestinal Pseudo-Obstruction Scleroderma Short Bowel Syndrome Sacral Agenesis Sacral Agenesis Syndrome Caudal Regression Scheuermann Disease SMC1A Loss of Function Epilepsy

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.

Study Design

Layout table for study information

Study Type :	Observational [Patient Registry]
Estimated Enrollment :	20000 participants
Observational Model:	Case-Only
Time Perspective:	Prospective
Target Follow-Up Duration:	100 Years
Official Title:	Coordination of Rare Diseases at Sanford
Actual Study Start Date :	July 2010
Estimated Primary Completion Date :	December 2100
Estimated Study Completion Date :	December 2100

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Multiple endocrine neoplasia WAGR syndrome Refsum disease Infantile-onset spinocerebellar ataxia Lyme disease Retinitis pigmentosa Hypophosphatasia Marinesco-Sjögren syndrome Familial dilated cardiomyopathy CASK-related intellectual disability Axenfeld-Rieger syndrome Multiple system atrophy Aniridia Cornelia de Lange syndrome Pyridoxal 5'-phosphate-dependent epilepsy Episodic ataxia Cockayne syndrome Sjögren syndrome Peters anomaly Spastic paraplegia type 49 Lowe syndrome VLDLR-associated cerebellar hypoplasia CHMP2B-related frontotemporal dementia Behçet disease Bohring-Opitz syndrome Caudal regression syndrome Spinocerebellar ataxia type 3 Gillespie syndrome Frontotemporal dementia with parkinsonism-17 Atypical hemolytic-uremic syndrome White-Sutton syndrome Emanuel syndrome Beckwith-Wiedemann syndrome Frasier syndrome Spinocerebellar ataxia type 36 Leigh syndrome Mucolipidosis type IV Optic atrophy type 1 Hereditary sensory and autonomic neuropathy type IE Alagille syndrome Autosomal dominant optic atrophy and cataract Primary coenzyme Q10 deficiency 1p36 deletion syndrome Myasthenia gravis Ataxia-telangiectasia Spinocerebellar ataxia type 2 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Kawasaki disease Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 6 Autosomal recessive spastic ataxia of Charlevoix-Saguenay Nicolaides-Baraitser syndrome Narcolepsy Stickler syndrome Denys-Drash syndrome Nonsyndromic hearing loss Autosomal recessive cerebellar ataxia type 1 Potocki-Shaffer syndrome Myhre syndrome Leber congenital amaurosis SYNGAP1-related intellectual disability Klippel-Feil syndrome Ataxia with oculomotor apraxia Russell-Silver syndrome Ataxia with vitamin E deficiency Wolf-Hirschhorn syndrome GRN-related frontotemporal lobar degeneration

MedlinePlus related topics: Rare Diseases

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

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.

Eligibility Criteria

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Layout table for eligibility information

Ages Eligible for Study:	Child, Adult, Older Adult
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Unaffected carriers, undiagnosed and those with a rare disease or rare condition.

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

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01793168

Contacts

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Contact: CoRDS Team	1-877-658-9192	cords@sanfordhealth.org

Locations

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United States, South Dakota
Sanford Health	Recruiting
Sioux Falls, South Dakota, United States, 57104
Contact: CoRDS Team 877-658-9192 cords@sanfordhealth.org
Principal Investigator: Benjamin Forred, MBA
Australia
Online Patient Enrollment System	Recruiting
Sydney, Australia
Contact: CoRDS Team 1-877-6589192 cords@sanfordhealth.org

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 - 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

Alstrom United Kingdom

Athymia

Curing Retinal Blindness Foundation

HSAN1E Society

1p36 Deletion Support and Awareness

The Alagille Syndrome Alliance

Autoinflammatory Alliance

Beyond Batten

Bohring-Opitz Syndrome Foundation, INC

Cockayne Syndrome Network (Share and Care)

CRMO Foundation

Cure VCP Disease,INC

FOD Support

Cystinosis Research Foundation

Global DARE Foundation

Hypnic Jerk-Sleep Myoclonus Support Group

Jansen's Foundation

KCNMA1 Channelopathy International Advocacy Foundation

Kawasaki Disease Foundation Australia

Life with LEMS Foundation

Lowe Syndrome Association

The Malan Syndrome Foundation

Maple Syrup Urine Disease Family Support Group

International Association for Muscle Glycogen Storage Disease (IamGSD)

Myhre Syndrome Foundation

DNM1 Families

Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation

The PBCers Organization

Pitt Hopkins Research Foundation

Progressive Familial Intrahepatic Cholestasis Advocacy and Resource Network, Inc

Recurrent Meningitis Association

Recurrent Respiratory Papillomatosis Foundation

Remember the Girls

Smith-Kingsmore Syndrome Foundation

SPG Research Foundation

Team Telomere

Transient Global Amnesia Project

The Charlotte & Gwenyth Gray Foundation

The Cute Syndrome Foundation

The Maddi Foundation

White Sutton Syndrome Foundation

Zmynd11 Gene Disorder

Cauda Equina Foundation, Inc

Tango2 Research Foundation

Noah's Hope - Hope4Bridget Foundation

Project Sebastian

SMC1A Epilepsy Foundation

International Foundation for Gastrointestinal Disorders

Endosalpingiosis Foundation, Inc

International Sacral Agenesis/Caudal Regression Association (ISACRA)

Scheuermann's Disease Fund

More Information

Additional Information:

CoRDS homepage This link exits the ClinicalTrials.gov site

CoRDS Screening Form This link exits the ClinicalTrials.gov site

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Responsible Party:	Sanford Health
ClinicalTrials.gov Identifier:	NCT01793168
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 ) aHUS ( Registry Identifier: aHUS Registry ) Klippel-Feil Syndrome Alliance ( Registry Identifier: KFS Registry ) American MEN Support ( Registry Identifier: Mulitiple Endocrine Neoplasia Registry ) Kleine-Levin Syndrome ( Registry Identifier: Kleine-Levin Syndrome Registry ) All Things Kabuki ( Registry Identifier: Kabuki Syndrome Registry ) WSS Foundation ( Registry Identifier: Wiedemann-Steiner Syndrome Registry ) BIVA ( Registry Identifier: Brest Implant-Associated ALCL Registry ) ABDA ( Registry Identifier: American Bechet's Disease Association Registry ) PROS Foundation (HLH) ( Registry Identifier: Hemophagocytic Lymphohistiocytosis (HLH) Registry ) Alagille Syndrome Association ( Registry Identifier: Alagillle Syndrome Registry ) Cure VCP Disease, Inc. ( Registry Identifier: IBMPFD Registry ) Lowe Syndrome Association ( Registry Identifier: Lowe Syndrome Registry ) Pitt Hopkins ( Registry Identifier: Pitt Hopkins Registry ) Cure Batten Disease ( Registry Identifier: Batten Disease Registry ) Hypnic Jerk/Sleep Myoclonus ( Registry Identifier: Hypnic Jerk/Sleep Myoclonus Registry ) 1p36 DSA ( Registry Identifier: 1p36 Deletion Syndrome Registry ) Jansen Foundation ( Registry Identifier: The Jansen Foundation Registry ) Share and Care Network ( Registry Identifier: Cockayne Syndrome Registry ) CRMO ( Registry Identifier: CRMO Registry ) The Malan Syndrome Foundation ( Registry Identifier: Malan Syndrome Registry ) HSAN1E Society ( Registry Identifier: HSAN1E Registry ) Alstrom United Kingdomg ( Registry Identifier: Alstrom United Kingdom ) Athymia ( Registry Identifier: Athymia ) CRB1 Foundation ( Registry Identifier: Curing Retinal Blindness Foundation ) Cystinosis Research Foundation ( Registry Identifier: Cystinosis Research Foundation ) DNM1 Families ( Registry Identifier: DNM1 Mutations ) Global DARE Foundation ( Registry Identifier: Global DARE Foundation ) KCIAF ( Registry Identifier: KCNMA1 Channelopathy International Advocacy Foundation ) MSUD FSG ( Registry Identifier: Maple Syrup Urine Disease Family Support Group ) IamGSD ( Registry Identifier: International Association for Muscle Glycogen Storage Disease ) Myhre Syndrome Foundation ( Registry Identifier: Myhre Syndrome Foundation ) NCBRS ( Registry Identifier: Nicolaides Baraitser Syndrome Worldwide Foundation ) PBCers Organization ( Registry Identifier: PBCers Organization ) DBA - PFIC Network ( Registry Identifier: Progressive Familial Intrahepatic Cholestasis Advocacy and Resource Network, Inc ) Remember the Girls ( Registry Identifier: Remember the Girls - X-Linked Carriers ) RRPF ( Registry Identifier: Recurrent Respiratory Papillomatosis Foundation ) SKS Foundation ( Registry Identifier: Smith-Kingsmore Syndrome Foundation ) SPG15 Research Foundation ( Registry Identifier: SPG Research Foundation ) Team Telomere ( Registry Identifier: Team Telomere ) TGA Project ( Registry Identifier: Transient Global Amnesia Project ) The Cute Syndrome Foundation ( Registry Identifier: The Cute Syndrome Foundation ) WSS Foundation ( Registry Identifier: White Sutton Syndrome Foundation ) Zmynd11 Gene Disorder ( Registry Identifier: Zmynd11 Gene Disorder ) SPG11 and SPG15 ( Registry Identifier: The Maddi Foundation ) Endosalpingiosis Foundation ( Registry Identifier: Endosalpingiosis Foundation, Inc ) Cauda Equina Foundation ( Registry Identifier: Cauda Equina Foundation, Inc ) Tango2 Research Foundation ( Registry Identifier: Tango2 Research Foundation ) SMC1A Epilepsy ( Registry Identifier: SMC1A Epilepsy Foundation ) IFFGD ( Registry Identifier: International Foundation for Gastrointestinal Disorders ) Noah's Hope - Hope4Bridget ( Registry Identifier: Noah's Hope - Hope4Bridget Foundation ) Project Sebastian ( Registry Identifier: Project Sebastian ) ISACRA ( Registry Identifier: International Sacral Agenesis/Caudal Regression Association (SACRA) ) Scheuermann's Disease Fund ( Registry Identifier: Scheuermann's Disease Fund )
First Posted:	February 15, 2013 Key Record Dates
Last Update Posted:	December 10, 2020
Last Verified:	July 2020
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 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)

Additional relevant MeSH terms:

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Osteomyelitis Lyme Disease Meningitis, Viral Neoplasms Lymphoma, Large-Cell, Anaplastic Leiomyosarcoma Papilloma 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 Arthrogryposis Muscle Weakness Mucolipidoses Cockayne Syndrome Craniofacial Abnormalities Osteochondrodysplasias Arthritis Silver-Russell Syndrome Klippel-Feil Syndrome Brachydactyly Scheuermann Disease Inflammatory Bowel Diseases Gastroparesis

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