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RecruitingNCT01793168

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

Coordination of Rare Diseases at Sanford

Sponsor

Sanford Health

Enrollment

20,000 participants

Start Date

Jul 1, 2010

Study Type

OBSERVATIONAL

Conditions

Disorders of Unknown Prevalence Cornelia De Lange Syndrome Childhood-onset Hypophosphatasia Infantile Hypophosphatasia Hypersomnolence Disorder Idiopathic Hypersomnia Without Long Sleep Time Leiomyosarcoma of the Corpus Uteri Rare Disorders Undiagnosed Disorders Prenatal Benign Hypophosphatasia Perinatal Lethal Hypophosphatasia Odontohypophosphatasia Adult Hypophosphatasia Hypophosphatasia Kabuki Syndrome Bohring-Opitz Syndrome Narcolepsy Without Cataplexy Narcolepsy-cataplexy Idiopathic Hypersomnia With Long Sleep Time Idiopathic Hypersomnia Kleine-Levin Syndrome Kawasaki Disease Leiomyosarcoma Acquired Myasthenia Gravis Juvenile Myasthenia Gravis Transient Neonatal Myasthenia Gravis Lyme Disease Myasthenia Gravis 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 Leiomyosarcoma of the Cervix Uteri Leiomyosarcoma of Small Intestine Addison Disease Hyperacusis (Hyperacousis)Williams Syndrome Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)Isolated Klippel-Feil Syndrome Aniridia Peters Anomaly - Cataract Peters Anomaly 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 Autosomal Recessive Stickler Syndrome Stickler Syndrome Type 2 Stickler Syndrome Type 1 Stickler Syndrome Spinocerebellar Ataxia Type 5 Spinocerebellar Ataxia Type 4 Spinocerebellar Ataxia Type 37 Spinocerebellar Ataxia Type 36 Aniridia - Absent Patella Potocki-Shaffer Syndrome WAGR Syndrome Wolf-Hirschhorn Syndrome 4p16.3 Microduplication Syndrome 4p Deletion Syndrome, Non-Wolf-Hirschhorn 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 35 Spinocerebellar Ataxia Type 34 Spinocerebellar Ataxia Type 32 Spinocerebellar Ataxia Type 31 Spinocerebellar Ataxia Type 30 Spinocerebellar Ataxia Type 3 Spinocerebellar Ataxia Type 27 Spinocerebellar Ataxia Type 26 Spinocerebellar Ataxia Type 29 Spinocerebellar Ataxia Type 28 Spinocerebellar Ataxia Type 2 Spinocerebellar Ataxia Type 19/22 Spinocerebellar Ataxia Type 18 Spinocerebellar Ataxia Type 17 Spinocerebellar Ataxia Type 12 Spinocerebellar Ataxia Type 11 Spinocerebellar Ataxia Type 1 Spinocerebellar Ataxia Type 25 Spinocerebellar Ataxia Type 23 Spinocerebellar Ataxia Type 22 Spinocerebellar Ataxia Type 21 Spinocerebellar Ataxia Type 20 Spinocerebellar Ataxia Type 16 Spinocerebellar Ataxia Type 15/16 Spinocerebellar Ataxia Type 14 Spinocerebellar Ataxia Type 13 Spinocerebellar Ataxia Type 10 Spinocerebellar Ataxia Type 1 With Axonal Neuropathy 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 Spinocerebellar Ataxia - Unknown Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract Multiple System Atrophy, Cerebellar Type Multiple System Atrophy Maternally-inherited Leigh Syndrome Machado-Joseph Disease Type 1 Episodic Ataxia Type 3 Episodic Ataxia Type 1 Dilated Cardiomyopathy With Ataxia Cataract - Ataxia - Deafness 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 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 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 - Psychomotor Retardation 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 Ataxia - Other Ataxia - Genetic Diagnosis - Unknown Alcohol Related Ataxia Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia Type 2 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 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 Machado-Joseph Disease Type 3 Machado-Joseph Disease Type 2 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 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 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 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 Cerebellar Ataxia - Saccadic Intrusion 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 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 Acquired Ataxia Adult-onset Autosomal Recessive Cerebellar Ataxia Multiple Endocrine Neoplasia Type II Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia, Type 3 Multiple Endocrine Neoplasia (MEN) Syndrome Atypical HUS Wiedemann-Steiner Syndrome Behcet's Disease Alagille Syndrome Multiple Endocrine Neoplasia, Type IV Multiple Endocrine Neoplasia Type 2B Multiple Endocrine Neoplasia Type 2A Atypical Hemolytic Uremic Syndrome Breast Implant-Associated Anaplastic Large Cell Lymphoma Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)Hemophagocytic Lymphohistiocytosis Pitt Hopkins Syndrome 1p36 Deletion Syndrome Jansen Type Metaphyseal Chondrodysplasia Cockayne Syndrome Chronic Recurrent Multifocal Osteomyelitis Anal Fistula Congenital Sucrase-Isomaltase Deficiency Eosinophilic Gastroenteritis Idiopathic Gastroparesis Hirschsprung Disease Rare Inflammatory Bowel Disease Intestinal Pseudo-Obstruction Caudal Regression Scheuermann Disease Juvenile Nephropathic Cystinosis Spinal Bulbar Muscular Atrophy Warburg Micro Syndrome Mitochondrial Aminoacyl-tRNA Synthetases Mt-aaRS Disorders Hypertrophic Olivary Degeneration Non-Ketotic Hyperglycinemia Isolated Congenital Asplenia Lambert Eaton (LEMS)Biliary Atresia STAG1 Gene Mutation Coffin Lowry Syndrome Borjeson-Forssman-Lehman Syndrome Blau Syndrome Kbg Syndrome Labrune Syndrome Metachromatic Leukodystrophy (MLD)Moyamoya Disease OPHN1 Syndrome Oculopharyngeal Muscular Dystrophy (OPMD)TUBB3 Mutation WOREE (WWOX-related Epileptic Encephalopathy SCAR12 Skraban-Deardorff Syndrome Hereditary Myopathy With Early Respiratory Failure Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia Lowe Syndrome 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 Scleroderma Short Bowel Syndrome Sacral Agenesis Sacral Agenesis Syndrome SMC1A Truncated Mutations (Causing Loss of Gene Function)Cystinosis Nephropathic Cystinosis Kennedy Disease Mucolipidoses Mitochondrial Diseases Fish Odor Syndrome Halitosis Arginase 1 Deficiency HSPB8 Myopathy Beta-Mannosidosis TBX4 Syndrome DHDDS Gene Mutations MAND-MBD5-Associated Neurodevelopmental Disorder Constitutional Mismatch Repair Deficiency (CMMRD)SPATA5 Disorder SPATA5L1 Related Disorder Acrodysostosis Multi-systematic Smooth Muscle Dysfunction Syndrome CRELD1 (Cysteine Rich With EGF Like Domains 1)GNB1 Syndrome Pyruvate Dehydrogenase Complex Deficiency Disease

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.

Eligibility

Plain Language Summary

Simplified for easier understanding

This registry study collects long-term health data from people with rare diseases, undiagnosed conditions, or who carry a genetic variant linked to a rare disease — to help researchers understand these conditions better over time. **You may be eligible if...** - You have been diagnosed with a rare disease (a disease affecting fewer than 200,000 people in the US), an undiagnosed condition, or a disease of unknown prevalence - You are a known carrier of a rare or uncommon genetic condition **You may NOT be eligible if...** - Your disease is not considered rare Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(2)

Sanford Health

Sioux Falls, South Dakota, United States

Online Patient Enrollment System

Sydney, Australia

View Full Details on ClinicalTrials.gov

For the most up-to-date information, visit the official listing.

NCT01793168

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