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

Coordination of Rare Diseases at Sanford

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.

Study Overview

• Status: Recruiting
• Conditions: Mitochondrial Diseases; Retinitis Pigmentosa; Myasthenia Gravis; Eosinophilic Gastroenteritis; Multiple System Atrophy; Leiomyosarcoma; Leukodystrophy; Anal Fistula; Spinocerebellar Ataxia Type 3; Friedreich Ataxia; Kennedy Disease; Lyme Disease; Hemophagocytic Lymphohistiocytosis; Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 6; Williams Syndrome; Hirschsprung Disease; Glycogen Storage Disease; Kawasaki Disease; Short Bowel Syndrome; Hypophosphatasia; Leber Congenital Amaurosis; Halitosis; Achalasia Cardia; Multiple Endocrine Neoplasia; Leigh Syndrome; Addison Disease; Multiple Endocrine Neoplasia Type 2; Scleroderma; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2A; Multiple Endocrine Neoplasia Type 2B; Atypical Hemolytic Uremic Syndrome; Spastic Ataxia; WAGR Syndrome; Aniridia; Transient Global Amnesia; Cauda Equina Syndrome; Refsum Disease; Recurrent Respiratory Papillomatosis; Kabuki Syndrome; Cystinosis; Idiopathic Hypersomnia; Behcet's Disease; Scheuermann Disease; Primary Biliary Cirrhosis; Beckwith-Wiedemann Syndrome; Intestinal Pseudo-Obstruction; Autosomal Recessive Cerebellar Ataxia; Idiopathic Gastroparesis; Pitt Hopkins Syndrome; Mucolipidoses; Alstrom Syndrome; Cockayne Syndrome; Fragile X-associated Tremor/Ataxia Syndrome; Laryngeal Papillomatosis; Spinocerebellar Ataxia Type 10; Narcolepsy Without Cataplexy; Rare Disorders; Hypersomnolence Disorder; Mucolipidosis Type 4; Chronic Recurrent Multifocal Osteomyelitis; Alagille Syndrome; Cornelia De Lange Syndrome; Lowe Syndrome; Spinocerebellar Ataxia Type 7; Spinocerebellar Ataxia Type 8; Undiagnosed Disorders; Disorders of Unknown Prevalence; Prenatal Benign Hypophosphatasia; Perinatal Lethal Hypophosphatasia; Odontohypophosphatasia; Adult Hypophosphatasia; Childhood-onset Hypophosphatasia; Infantile Hypophosphatasia; Bohring-Opitz Syndrome; Narcolepsy-cataplexy; Idiopathic Hypersomnia Without Long Sleep Time; Idiopathic Hypersomnia With Long Sleep Time; Kleine-Levin Syndrome; Leiomyosarcoma of the Corpus Uteri; Leiomyosarcoma of the Cervix Uteri; Leiomyosarcoma of Small Intestine; Acquired Myasthenia Gravis; Hyperacusis (Hyperacousis); Juvenile Myasthenia Gravis; Transient Neonatal Myasthenia Gravis; Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome); Isolated Klippel-Feil Syndrome; Frasier Syndrome; Denys-Drash 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; 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; 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; 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 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 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 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 1 With Axonal Neuropathy; 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; 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; Maternally-inherited Leigh Syndrome; Machado-Joseph Disease Type 3; Machado-Joseph Disease Type 2; Machado-Joseph Disease Type 1; Late-onset Ataxia With Dementia; Infection or Post Infection Ataxia; GAD Ataxia; Hereditary Episodic Ataxia; Gliadin/Gluten Ataxia; 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 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 Type II; Multiple Endocrine Neoplasia, Type IV; Multiple Endocrine Neoplasia, Type 3; Multiple Endocrine Neoplasia (MEN) Syndrome; Atypical HUS; Wiedemann-Steiner Syndrome; Breast Implant-Associated Anaplastic Large Cell Lymphoma; Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA); Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD); 1p36 Deletion Syndrome; Jansen Type Metaphyseal Chondrodysplasia; CRMO; Malan Syndrome; Hereditary Sensory and Autonomic Neuropathy Type Ie; VCP Disease; Hypnic Jerking; Sleep Myoclonus; Mollaret Meningitis; Recurrent Viral Meningitis; CRB1; Rare Retinal Disorder; KCNMA1-Channelopathy; ZMYND11; White Sutton Syndrome; DNM1; EIEE31; Myhre Syndrome; Tracheal Papillomatosis; Nicolaides Baraitser Syndrome; Tango2; Rare Gastrointestinal Disorders; Achalasia-Addisonian Syndrome; Achalasia Icrocephaly Syndrome; Congenital Sucrase-Isomaltase Deficiency; Rare Inflammatory Bowel Disease; Sacral Agenesis; Sacral Agenesis Syndrome; Caudal Regression; SMC1A Truncated Mutations (Causing Loss of Gene Function); Juvenile Nephropathic Cystinosis; Nephropathic Cystinosis; Spinal Bulbar Muscular Atrophy; Warburg Micro Syndrome; Mitochondrial Aminoacyl-tRNA Synthetases; Mt-aaRS Disorders; Hypertrophic Olivary Degeneration; Non-Ketotic Hyperglycinemia; Fish Odor Syndrome

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 Type: Observational
• Enrollment (Anticipated): 20000

Contacts and Locations

• Study Contact: Name: CoRDS Team; Phone Number: 1-877-658-9192; Email: [email protected]

Study Locations

• Australia
  • Sydney, Australia
    • Recruiting
    • Online Patient Enrollment System
    • Contact: CoRDS Team; Phone Number: 1-877-6589192; Email: [email protected]
• United States
  • South Dakota
    • Sioux Falls, South Dakota, United States, 57104
      • Recruiting
      • Sanford Health
      • Contact: CoRDS Team; Phone Number: 877-658-9192; Email: [email protected]
      • Principal Investigator: Benjamin Forred, MBA

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

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

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
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.	100 years

Collaborators and Investigators

• Sponsor: Sanford Health
• Collaborators: National Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research Foundation; Cornelia de Lange Syndrome Foundation; International WAGR Syndrome Association; 4p- Support Group; ML4 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; 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; 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 Mucolipidosis; Riaan Research Initiative; CureARS A NJ Nonprofit Corporation; CACNA1H Alliance; IMBS Alliance; SHINE-Syndrome Foundaion; Non- Ketotic Hyperglycinemia (NKH) Crusaders; Hypertrophic Olivary Degeneration Association (HODA); National Organization for Disorders of the Corpus Callosum (NODCC)

Publications and helpful links

Helpful Links

• CoRDS homepage

Study record dates

Study Major Dates

• Study Start (Actual): July 1, 2010
• Primary Completion (Anticipated): December 1, 2100
• Study Completion (Anticipated): December 1, 2100

Study Registration Dates

• First Submitted: February 13, 2013
• First Submitted That Met QC Criteria: February 13, 2013
• First Posted (Estimate): February 15, 2013

Study Record Updates

• Last Update Posted (Actual): June 27, 2022
• Last Update Submitted That Met QC Criteria: June 20, 2022
• Last Verified: June 1, 2022

More Information

Terms related to this study

• Keywords: Rare Diseases; Hypophosphatasia; Atypical Hemolytic Uremic Syndrome; Registries; WAGR Syndrome; Kabuki Syndrome; Ataxia; Narcolepsy; Leiomyosarcoma; Multiple Endocrine Neoplasia; Batten Disease; Cockayne Syndrome; Hyperacusis; Hypersomnia; Lowe Syndrome; Neglected Diseases; Orphan Diseases; Rare Disease Research; Cornelia de Lange Syndrome; Stickler Syndrome; Ataxia Telangiectasia; Kawasaki Disease; Mucolipidosis IV; Klippel-Feil Syndrome; Undiagnosed; Uncommon Disease; Kleine-Levin Syndrome; Marinesco-Sjogren Syndrome; 4p-/Wolf-Hirschhorn Syndrome; Wiedermann-Steiner Syndrome; Breast Implant-Associated Anaplastic Large Cell Lymphoma; Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA); Hemophagocytic Lymphohistiocytosis (HLH); Behcet's Disease; Alagille Syndrome; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD); Pitt Hopkins Syndrome; 1p36 deletion syndrome; Jansen metaphyseal chondrodysplasia; Chronic recurrent multifocal osteomyelitis (CRMO); Malan syndrome; Hereditary Sensory and Autonomic Neuropathy; Cystinosis; Juvenile nephropathic cystinosis; Nephropathic infantile cystinosis; Ocular cystinosis; Kennedy disease; Spinal Bulbar Muscular Atrophy (SBMA); SMC1A Truncated Mutations (causing loss of gene function); Leigh syndrome; Warburg Micro Syndrome; Mucolipidosis; Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders); Shine Syndrome; Hypertrophic Olivary Degeneration; Non-Ketotic Hyperglycinemia; Intestinal Bromhidrosis Syndrome; Fish odor syndrome; Autosomal recessive extra oral halitosis; CACNA1H mutation; Dimethylglycine dehydrogenase deficiency
• Additional Relevant MeSH Terms: Mental Disorders; Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Vascular Diseases; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Skin Diseases; Virus Diseases; Infections; Immunologic Deficiency Syndromes; Immune System Diseases; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Lymphoproliferative Disorders; Lymphatic Diseases; Immunoproliferative Disorders; Lymphoma, Non-Hodgkin; Autoimmune Diseases of the Nervous System; Autoimmune Diseases; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Urologic Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Kidney Diseases; Urologic Diseases; Neoplasms, Glandular and Epithelial; Hypersensitivity, Immediate; Eye Diseases; Postoperative Complications; Neurologic Manifestations; Wounds and Injuries; Neurobehavioral Manifestations; Neurocognitive Disorders; Endocrine System Diseases; Disease Attributes; Gonadal Disorders; Disorders of Sex Development; Urogenital Abnormalities; Hematologic Diseases; Signs and Symptoms, Digestive; Stomach Diseases; Retinal Degeneration; Liver Diseases; Renal Insufficiency; Nutrition Disorders; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Neuromuscular Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Mouth Diseases; Central Nervous System Viral Diseases; Central Nervous System Infections; Vector Borne Diseases; Basal Ganglia Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases; Kidney Neoplasms; Colonic Diseases; Intestinal Diseases; Gram-Negative Bacterial Infections; Bacterial Infections; Bacterial Infections and Mycoses; Nerve Compression Syndromes; Neuromuscular Manifestations; Ear Diseases; Pathological Conditions, Anatomical; Rectal Diseases; Anemia; Dyskinesias; Psychomotor Disorders; Uveitis, Anterior; Panuveitis; Uveitis; Uveal Diseases; Vasculitis; Hereditary Autoinflammatory Diseases; Skin Diseases, Genetic; Skin Diseases, Vascular; Trauma, Nervous System; Aortic Valve Disease; Heart Valve Diseases; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Nervous System Neoplasms; Avitaminosis; Deficiency Diseases; Malnutrition; Hypersensitivity; Retinal Dystrophies; Fibrosis; Spinal Diseases; Bone Diseases; Esophageal Motility Disorders; Deglutition Disorders; Esophageal Diseases; Esophagitis; Renal Insufficiency, Chronic; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Heredodegenerative Disorders, Nervous System; Lens Diseases; Neoplastic Syndromes, Hereditary; DNA Repair-Deficiency Disorders; Neoplasms, Complex and Mixed; Optic Nerve Diseases; Cranial Nerve Diseases; Thrombocytopenia; Blood Platelet Disorders; Leukocyte Disorders; Spinal Curvatures; Autonomic Nervous System Diseases; Lacrimal Apparatus Diseases; Corneal Diseases; Malabsorption Syndromes; Biliary Tract Diseases; Sensation Disorders; Neurodevelopmental Disorders; Brain Diseases, Metabolic; Ocular Motility Disorders; Bone Diseases, Metabolic; Paraneoplastic Syndromes, Nervous System; Paraneoplastic Syndromes; Neuromuscular Junction Diseases; Sarcoma; Optic Atrophies, Hereditary; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Anemia, Hemolytic; Heart Defects, Congenital; Cardiovascular Abnormalities; Musculoskeletal Abnormalities; Disorder of Sex Development, 46,XY; Cardiomegaly; Skin Abnormalities; Renal Tubular Transport, Inborn Errors; Nervous System Malformations; Lymphoma; Laminopathies; Chromosome Disorders; Thrombotic Microangiopathies; Neoplasms, Squamous Cell; Eosinophilia; Intestinal Fistula; Digestive System Fistula; Language Disorders; Communication Disorders; Hearing Disorders; Hernia; Lysosomal Storage Diseases, Nervous System; Neoplasms, Muscle Tissue; Dwarfism; Bone Diseases, Developmental; Paralysis; Vitamin B Deficiency; Vision Disorders; Muscle Hypertonia; Speech Disorders; Primary Dysautonomias; Hypotension; Frontotemporal Lobar Degeneration; Limb Deformities, Congenital; Neurocutaneous Syndromes; Bile Duct Diseases; Metal Metabolism, Inborn Errors; Arthritis, Rheumatoid; Aphasia; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Chromosome Aberrations; Xerostomia; Salivary Gland Diseases; Dry Eye Syndromes; Intestinal Obstruction; Adrenal Gland Diseases; Ciliopathies; Cerebellar Diseases; Tick-Borne Diseases; Lymphoma, T-Cell; Bone Diseases, Infectious; Aortic Valve Stenosis; Motor Neuron Disease; Borrelia Infections; Spirochaetales Infections; Neural Tube Defects; Digestive System Abnormalities; Primary Immunodeficiency Diseases; Polyradiculoneuropathy; Neoplasms, Multiple Primary; Megacolon; Articulation Disorders; Cholestasis, Intrahepatic; Cholestasis; Liver Cirrhosis; Peroxisomal Disorders; Adrenal Insufficiency; Vestibulocochlear Nerve Diseases; Dysostoses; Uremia; Iris Diseases; Memory Disorders; Hereditary Sensory and Motor Neuropathy; Osteochondrosis; Pyruvate Metabolism, Inborn Errors; Ileus; Aortic Stenosis, Supravalvular; Muscular Atrophy, Spinal; Amino Acid Transport Disorders, Inborn; Wilms Tumor; Spinal Osteochondrosis; Kyphosis; Kidney Failure, Chronic; Nondisjunction, Genetic; Neoplasms; Epilepsy; Syndrome; Mitochondrial Diseases; Arthritis; Disease; Muscle Weakness; Inflammatory Bowel Diseases; Behcet Syndrome; Retinal Diseases; Peripheral Nervous System Diseases; Retinitis; Retinitis Pigmentosa; Recurrence; Dementia; Fistula; Cataract; Congenital Abnormalities; Corneal Opacity; Muscular Atrophy; Gastrointestinal Diseases; Digestive System Diseases; Myasthenia Gravis; Hypertrophy; Hypogonadism; Connective Tissue Diseases; Fanconi Syndrome; Cardiomyopathies; Cardiomyopathy, Dilated; Gastroenteritis; Eosinophilic Esophagitis; Atrophy; Rectal Fistula; Polyneuropathies; Meningitis; Muscular Diseases; Hearing Loss; Ataxia; Vitamin B 12 Deficiency; Deafness; Hearing Loss, Sensorineural; Muscle Spasticity; Multiple System Atrophy; Shy-Drager Syndrome; Frontotemporal Dementia; Aphasia, Primary Progressive; Pick Disease of the Brain; Gastroparesis; Leiomyosarcoma; Telangiectasis; Craniocerebral Trauma; Esophageal Achalasia; Sjogren's Syndrome; Intellectual Disability; Corneal Dystrophies, Hereditary; Retinal Detachment; Apraxias; Lymphoma, Large-Cell, Anaplastic; Hyperacusis; Cerebellar Ataxia; Spinocerebellar Ataxias; Spinocerebellar Degenerations; Machado-Joseph Disease; Friedreich Ataxia; Bulbo-Spinal Atrophy, X-Linked; Endocrine Gland Neoplasms; Blindness; Lyme Disease; Lymphohistiocytosis, Hemophagocytic; Williams Syndrome; Leukoencephalopathies; Nerve Degeneration; Disorders of Excessive Somnolence; Papilloma; Hirschsprung Disease; Craniofacial Abnormalities; Rare Diseases; Dysarthria; Liver Cirrhosis, Biliary; Glycogen Storage Disease; Osteomyelitis; Mucocutaneous Lymph Node Syndrome; Hereditary Sensory and Autonomic Neuropathies; Short Bowel Syndrome; Hypophosphatasia; Leber Congenital Amaurosis; Halitosis; Osteochondrodysplasias; Arthrogryposis; Multiple Endocrine Neoplasia; Optic Atrophy; Narcolepsy; Eye Diseases, Hereditary; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2a; Multiple Endocrine Neoplasia Type 2b; Hemolysis; Eye Abnormalities; Ataxia Telangiectasia; Hemolytic-Uremic Syndrome; Atypical Hemolytic Uremic Syndrome; Nystagmus, Pathologic; Amnesia; WAGR Syndrome; Aniridia; Amnesia, Transient Global; Cataplexy; Cauda Equina Syndrome; Refsum Disease; Abnormalities, Multiple; Cystinosis; Channelopathies; Scheuermann Disease; Beckwith-Wiedemann Syndrome; Leigh Disease; Ectodermal Dysplasia; Vitamin E Deficiency; Alstrom Syndrome; Mucolipidoses; Cockayne Syndrome; Myoclonus; Addison Disease; Cogan Syndrome; Idiopathic Hypersomnia; Intestinal Pseudo-Obstruction; Alagille Syndrome; Silver-Russell Syndrome; De Lange Syndrome; Oculocerebrorenal Syndrome; Meningitis, Viral; Denys-Drash Syndrome; Klippel-Feil Syndrome; Brachydactyly; Kleine-Levin Syndrome; Meningocele; Optic Atrophy, Autosomal Dominant; Olivopontocerebellar Atrophies; Hyperglycinemia, Nonketotic; Myasthenia Gravis, Neonatal; Frasier Syndrome; Wolf-Hirschhorn Syndrome; Uniparental Disomy
• 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: White Sutton Syndrome Foundation 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); 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); CACNA1H Alliance (Registry Identifier: CACNA1H Alliance Registry); IMBS Alliance (Registry Identifier: IMBS Alliance Registry); Non-Ketotic Hyperglycinemia (Registry Identifier: NKH Crusaders Registry); Corpus Callosum Disorders (Registry Identifier: NODCC Registry); SHINE Syndrome Foundation (Registry Identifier: SHINE Syndrome Foundation Registry); HODA (Registry Identifier: Hypertrophic Olivary Degeneration Association (HODA) Registry)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Yes
• IPD 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/.