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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 15, 2021
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 Disease Foundation
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
Batten Disease Support and Research Association
Kennedy's Disease Association
Cure Mito Foundation
Warburg Micro Research Foundation
Cure Mucloplidiosis
Riaan Research Initiative
CureARS A NJ Nonprofit Corporation
Information provided by (Responsible Party):
Sanford Health

Study Description
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
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 Truncated Mutations (Causing Loss of Gene Function) Cystinosis Juvenile Nephropathic Cystinosis Nephropathic Cystinosis Kennedy Disease Spinal Bulbar Muscular Atrophy Warburg Micro Syndrome Mucolipidoses Mitochondrial Diseases Mitochondrial Aminoacyl-tRNA Synthetases Mt-aaRS Disorders

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
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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 RAB18 deficiency 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 Spinal and bulbar muscular atrophy 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 Cystinosis 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 Sialidosis Kawasaki disease Silver syndrome 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 Myoclonic epilepsy myopathy sensory ataxia 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
Genetic and Rare Diseases Information Center resources: Myasthenia Gravis Ectodermal Dysplasia Lymphosarcoma Anaplastic Large Cell Lymphoma Short Bowel Syndrome Narcolepsy Congenital Sucrase-isomaltase Deficiency TANGO2-Related Metabolic Encephalopathy and Arrhythmias Primary Biliary Cholangitis Idiopathic Hypersomnia Apraxia Primary Progressive Aphasia Frontotemporal Dementia Frontotemporal Dementia, Ubiquitin-positive Semantic Dementia Leukodystrophy Neuronal Ceroid Lipofuscinosis Osteomyelitis Gastroparesis Retinitis Pigmentosa Systemic Scleroderma Addison's Disease Kawasaki Disease Eosinophilic Gastroenteritis Idiopathic Achalasia Cardiospasm Dilated Cardiomyopathy Hirschsprung Disease Friedreich Ataxia Leigh Syndrome Multiple System Atrophy Coenzyme Q10 Deficiency Leiomyosarcoma Ataxia Telangiectasia Hypophosphatasia Hemolytic Uremic Syndrome Laryngeal Papillomatosis Recurrent Respiratory Papillomatosis Kennedy Disease Behçet Disease Cogan's Syndrome Pitt-Hopkins Syndrome Hereditary Ataxia Spinocerebellar Ataxia Spinocerebellar Ataxia 3 Cystinosis Chronic Recurrent Multifocal Osteomyelitis Cockayne Syndrome Diencephalic Syndrome Russell-Silver Syndrome Multiple Endocrine Neoplasia Type 1 Aniridia Alagille Syndrome Caudal Regression Sequence Beckwith-Wiedemann Syndrome Fetal Thalidomide Syndrome Intestinal Pseudo-obstruction Atypical Hemolytic Uremic Syndrome Hyperacusis Scheuermann Disease Leber Congenital Amaurosis IBMPFD Williams Syndrome Fanconi Syndrome Kabuki Syndrome Transient Global Amnesia Spinocerebellar Ataxia 10 Stickler Syndrome Cornelia De Lange Syndrome Alström Syndrome Spinocerebellar Ataxia 1 Spinocerebellar Ataxia 2 Spinocerebellar Ataxia Type 6 Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 8 Spinocerebellar Ataxia 17 Ataxia With Oculomotor Apraxia Type 2 Spinocerebellar Ataxia Autosomal Recessive 7 Hereditary Sensory and Autonomic Neuropathy Refsum Disease Kleine Levin Syndrome Klippel Feil Syndrome Renal Agenesis Cauda Equina Syndrome Bohring-Opitz Syndrome Multiple Endocrine Neoplasia Type 2 Multiple Endocrine Neoplasia Type 2A Multiple Endocrine Neoplasia Type 2B Lowe Oculocerebrorenal Syndrome Chromosome 1p36 Deletion Syndrome Olivopontocerebellar Atrophy Thomas Syndrome Episodic Ataxia Autosomal Dominant Cerebellar Ataxia WAGR Syndrome Dominant Optic Atrophy Optic Atrophy 1 Marinesco-Sjogren Syndrome Denys-Drash Syndrome Peters Anomaly Micro Syndrome Spinocerebellar Ataxia 4 Mitochondrial DNA-associated Leigh Syndrome Frasier Syndrome Wolf-Hirschhorn Syndrome Triple A Syndrome Nicolaides-Baraitser Syndrome Myhre Syndrome Mollaret Meningitis Jansen Type Metaphyseal Chondrodysplasia Wiedemann-Steiner Syndrome Ataxia With Vitamin E Deficiency Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy Spinocerebellar Ataxia Autosomal Recessive 3 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 Posterior Column Ataxia Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15 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 34 Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 5 Mucolipidosis Type 4 Uniparental Disomy of Chromosome 11 Potocki-Shaffer Syndrome Absent Patella Aniridia - Ptosis - Intellectual Disability - Familial Obesity Axenfeld-Rieger Syndrome Emanuel Syndrome Childhood Hypophosphatasia Glanders Arthrogryposis Multiplex Congenita Mucopolysaccharidosis Type IV Behavioral Variant of Frontotemporal Dementia Miller Syndrome Meningocele Fanconi Anemia Congenital Aplastic Anemia Soft Tissue Sarcoma Panuveitis Uveal Diseases Familial Mediterranean Fever Non-Langerhans-Cell Histiocytosis Aortic Valve Stenosis Amyotrophic Lateral Sclerosis Charcot-Marie-Tooth Disease Hereditary Neuropathy With Liability to Pressure Palsies Roussy Levy Syndrome Peroxisomal Biogenesis Disorders Wilms' Tumor

Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. 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
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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
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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 Disease Foundation
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
Batten Disease Support and Research Association
Kennedy's Disease Association
Cure Mito Foundation
Warburg Micro Research Foundation
Cure Mucloplidiosis
Riaan Research Initiative
CureARS A NJ Nonprofit Corporation
More Information
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Additional Information:

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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 Registry )
Athymia ( Registry Identifier: Athymia Registry )
CRB1 Foundation ( Registry Identifier: Curing Retinal Blindness Foundation Registry )
DNM1 Families ( Registry Identifier: DNM1 Mutations Registry )
Global DARE Foundation ( Registry Identifier: Global DARE Foundation Registry )
KCIAF ( Registry Identifier: KCNMA1 Channelopathy International Advocacy Foundation Registry )
MSUD FSG ( Registry Identifier: Maple Syrup Urine Disease Family Support Group Registry )
IamGSD ( Registry Identifier: International Association for Muscle Glycogen Storage Disease Registry )
Myhre Syndrome Foundation ( Registry Identifier: Myhre Syndrome Foundation Registry )
NCBRS ( Registry Identifier: Nicolaides Baraitser Syndrome Worldwide Foundation Registry )
PBCers Organization ( Registry Identifier: PBCers Organization Registry )
DBA - PFIC Network ( Registry Identifier: Progressive Familial Intrahepatic Cholestasis Advocacy and Resource Network, Inc Registry )
Remember the Girls ( Registry Identifier: Remember the Girls - X-Linked Carriers Registry )
RRPF ( Registry Identifier: Recurrent Respiratory Papillomatosis Foundation Registry )
SKS Foundation ( Registry Identifier: Smith-Kingsmore Syndrome Foundation Registry )
SPG15 Research Foundation ( Registry Identifier: SPG Research Foundation Registry )
Team Telomere ( Registry Identifier: Team Telomere Registry )
TGA Project ( Registry Identifier: Transient Global Amnesia Project Registry )
The Cute Syndrome Foundation ( Registry Identifier: The Cute Syndrome Foundation Registry )
WSS Foundation ( Registry Identifier: White Sutton Syndrome Foundation Registry )
Zmynd11 Gene Disorder ( Registry Identifier: Zmynd11 Gene Disorder Registry )
SPG11 and SPG15 ( Registry Identifier: The Maddi Foundation Registry )
Endosalpingiosis Foundation ( Registry Identifier: Endosalpingiosis Foundation, Inc Registry )
Cauda Equina Foundation ( Registry Identifier: Cauda Equina Foundation, Inc Registry )
Tango2 Research Foundation ( Registry Identifier: Tango2 Research Foundation Registry )
SMC1A Epilepsy ( Registry Identifier: SMC1A Epilepsy Foundation Registry )
IFFGD ( Registry Identifier: International Foundation for Gastrointestinal Disorders )
Noah's Hope - Hope4Bridget ( Registry Identifier: Noah's Hope - Hope4Bridget Foundation Registry )
Project Sebastian ( Registry Identifier: Project Sebastian Registry )
ISACRA ( Registry Identifier: International Sacral Agenesis/Caudal Regression Association (SACRA) )
Scheuermann's Disease Fund ( Registry Identifier: Scheuermann's Disease Fund Registry )
BDSRA ( Registry Identifier: Batten Disease Support and Research Association )
Kennedy's Disease Assocation ( Registry Identifier: Kennedy's Disease Association Registry )
Cystinosis Research Foundation ( Registry Identifier: Cystinosis Research Foundation Registry )
Cure Mito Foundation ( Registry Identifier: Cure Mito Foundation Registry )
Warburg Micro Research ( Registry Identifier: Warburg Micro Research Foundation Registry )
Riaan Research Initiative ( Registry Identifier: Riaan Research Initiative Registry )
Cure Mucolipidosis ( Registry Identifier: Cure Mucolipidosis Registry )
CureARS A NJ Nonprofit ( Registry Identifier: CureARS Registry )
First Posted: February 15, 2013    Key Record Dates
Last Update Posted: December 15, 2021
Last Verified: November 2021
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
Myasthenia Gravis
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
Sjogren's Syndrome
Muscular Diseases
Muscle Weakness
Arthrogryposis
Cockayne Syndrome
Mucolipidoses
Craniofacial Abnormalities
Osteochondrodysplasias
Arthritis
Silver-Russell Syndrome
Klippel-Feil Syndrome
Scheuermann Disease
Brachydactyly
Inflammatory Bowel Diseases