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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT01793168




Registration number
NCT01793168
Ethics application status
Date submitted
13/02/2013
Date registered
15/02/2013

Titles & IDs
Public title
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Scientific title
Coordination of Rare Diseases at Sanford
Secondary ID [1] 0 0
Hypersomnia Foundation
Secondary ID [2] 0 0
03-10-014
Universal Trial Number (UTN)
Trial acronym
CoRDS
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Rare Disorders 0 0
Undiagnosed Disorders 0 0
Disorders of Unknown Prevalence 0 0
Cornelia De Lange Syndrome 0 0
Prenatal Benign Hypophosphatasia 0 0
Perinatal Lethal Hypophosphatasia 0 0
Odontohypophosphatasia 0 0
Adult Hypophosphatasia 0 0
Childhood-onset Hypophosphatasia 0 0
Infantile Hypophosphatasia 0 0
Hypophosphatasia 0 0
Kabuki Syndrome 0 0
Bohring-Opitz Syndrome 0 0
Narcolepsy Without Cataplexy 0 0
Narcolepsy-cataplexy 0 0
Hypersomnolence Disorder 0 0
Idiopathic Hypersomnia Without Long Sleep Time 0 0
Idiopathic Hypersomnia With Long Sleep Time 0 0
Idiopathic Hypersomnia 0 0
Kleine-Levin Syndrome 0 0
Kawasaki Disease 0 0
Leiomyosarcoma 0 0
Leiomyosarcoma of the Corpus Uteri 0 0
Leiomyosarcoma of the Cervix Uteri 0 0
Leiomyosarcoma of Small Intestine 0 0
Acquired Myasthenia Gravis 0 0
Addison Disease 0 0
Hyperacusis (Hyperacousis) 0 0
Juvenile Myasthenia Gravis 0 0
Transient Neonatal Myasthenia Gravis 0 0
Williams Syndrome 0 0
Lyme Disease 0 0
Myasthenia Gravis 0 0
Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome) 0 0
Isolated Klippel-Feil Syndrome 0 0
Frasier Syndrome 0 0
Denys-Drash Syndrome 0 0
Beckwith-Wiedemann Syndrome 0 0
Emanuel Syndrome 0 0
Isolated Aniridia 0 0
Axenfeld-Rieger Syndrome 0 0
Aniridia-intellectual Disability Syndrome 0 0
Aniridia - Renal Agenesis - Psychomotor Retardation 0 0
Aniridia - Ptosis - Intellectual Disability - Familial Obesity 0 0
Aniridia - Cerebellar Ataxia - Intellectual Disability 0 0
Aniridia - Absent Patella 0 0
Aniridia 0 0
Peters Anomaly - Cataract 0 0
Peters Anomaly 0 0
Potocki-Shaffer Syndrome 0 0
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 0 0
Silver-Russell Syndrome Due to Imprinting Defect of 11p15 0 0
Silver-Russell Syndrome Due to 11p15 Microduplication 0 0
Syndromic Aniridia 0 0
WAGR Syndrome 0 0
Wolf-Hirschhorn Syndrome 0 0
4p16.3 Microduplication Syndrome 0 0
4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome 0 0
Autosomal Recessive Stickler Syndrome 0 0
Stickler Syndrome Type 2 0 0
Stickler Syndrome Type 1 0 0
Stickler Syndrome 0 0
Mucolipidosis Type 4 0 0
X-linked Spinocerebellar Ataxia Type 4 0 0
X-linked Spinocerebellar Ataxia Type 3 0 0
X-linked Intellectual Disability - Ataxia - Apraxia 0 0
X-linked Progressive Cerebellar Ataxia 0 0
X-linked Non Progressive Cerebellar Ataxia 0 0
X-linked Cerebellar Ataxia 0 0
Vitamin B12 Deficiency Ataxia 0 0
Toxic Exposure Ataxia 0 0
Unclassified Autosomal Dominant Spinocerebellar Ataxia 0 0
Thyroid Antibody Ataxia 0 0
Sporadic Adult-onset Ataxia of Unknown Etiology 0 0
Spinocerebellar Ataxia With Oculomotor Anomaly 0 0
Spinocerebellar Ataxia With Epilepsy 0 0
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 0 0
Spinocerebellar Ataxia Type 8 0 0
Spinocerebellar Ataxia Type 7 0 0
Spinocerebellar Ataxia Type 6 0 0
Spinocerebellar Ataxia Type 5 0 0
Spinocerebellar Ataxia Type 4 0 0
Spinocerebellar Ataxia Type 37 0 0
Spinocerebellar Ataxia Type 36 0 0
Spinocerebellar Ataxia Type 35 0 0
Spinocerebellar Ataxia Type 34 0 0
Spinocerebellar Ataxia Type 32 0 0
Spinocerebellar Ataxia Type 31 0 0
Spinocerebellar Ataxia Type 30 0 0
Spinocerebellar Ataxia Type 3 0 0
Spinocerebellar Ataxia Type 29 0 0
Spinocerebellar Ataxia Type 28 0 0
Spinocerebellar Ataxia Type 27 0 0
Spinocerebellar Ataxia Type 26 0 0
Spinocerebellar Ataxia Type 25 0 0
Spinocerebellar Ataxia Type 23 0 0
Spinocerebellar Ataxia Type 22 0 0
Spinocerebellar Ataxia Type 21 0 0
Spinocerebellar Ataxia Type 20 0 0
Spinocerebellar Ataxia Type 2 0 0
Spinocerebellar Ataxia Type 19/22 0 0
Spinocerebellar Ataxia Type 18 0 0
Spinocerebellar Ataxia Type 17 0 0
Spinocerebellar Ataxia Type 16 0 0
Spinocerebellar Ataxia Type 15/16 0 0
Spinocerebellar Ataxia Type 14 0 0
Spinocerebellar Ataxia Type 13 0 0
Spinocerebellar Ataxia Type 12 0 0
Spinocerebellar Ataxia Type 11 0 0
Spinocerebellar Ataxia Type 10 0 0
Spinocerebellar Ataxia Type 1 With Axonal Neuropathy 0 0
Spinocerebellar Ataxia Type 1 0 0
Spinocerebellar Ataxia - Unknown 0 0
Spinocerebellar Ataxia - Dysmorphism 0 0
Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature 0 0
Spasticity-ataxia-gait Anomalies Syndrome 0 0
Spastic Ataxia With Congenital Miosis 0 0
Spastic Ataxia - Corneal Dystrophy 0 0
Spastic Ataxia 0 0
Rare Hereditary Ataxia 0 0
Rare Ataxia 0 0
Recessive Mitochondrial Ataxia Syndrome 0 0
Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature 0 0
Posterior Column Ataxia - Retinitis Pigmentosa 0 0
Post-Stroke Ataxia 0 0
Post-Head Injury Ataxia 0 0
Post Vaccination Ataxia 0 0
Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract 0 0
Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus 0 0
Non-hereditary Degenerative Ataxia 0 0
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity 0 0
Olivopontocerebellar Atrophy - Deafness 0 0
NARP Syndrome 0 0
Myoclonus - Cerebellar Ataxia - Deafness 0 0
Multiple System Atrophy, Parkinsonian Type 0 0
Multiple System Atrophy, Cerebellar Type 0 0
Multiple System Atrophy 0 0
Maternally-inherited Leigh Syndrome 0 0
Machado-Joseph Disease Type 3 0 0
Machado-Joseph Disease Type 2 0 0
Machado-Joseph Disease Type 1 0 0
Leigh Syndrome 0 0
Late-onset Ataxia With Dementia 0 0
Infection or Post Infection Ataxia 0 0
GAD Ataxia 0 0
Hereditary Episodic Ataxia 0 0
Gliadin/Gluten Ataxia 0 0
Friedreich Ataxia 0 0
Fragile X-associated Tremor/Ataxia Syndrome 0 0
Familial Paroxysmal Ataxia 0 0
Exposure to Medications Ataxia 0 0
Episodic Ataxia With Slurred Speech 0 0
Episodic Ataxia Unknown Type 0 0
Episodic Ataxia Type 7 0 0
Episodic Ataxia Type 6 0 0
Episodic Ataxia Type 5 0 0
Episodic Ataxia Type 4 0 0
Episodic Ataxia Type 3 0 0
Episodic Ataxia Type 1 0 0
Epilepsy and/or Ataxia With Myoclonus as Major Feature 0 0
Early-onset Spastic Ataxia-neuropathy Syndrome 0 0
Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity 0 0
Early-onset Cerebellar Ataxia With Retained Tendon Reflexes 0 0
Early-onset Ataxia With Dementia 0 0
Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia 0 0
Dilated Cardiomyopathy With Ataxia 0 0
Cataract - Ataxia - Deafness 0 0
Cerebellar Ataxia, Cayman Type 0 0
Cerebellar Ataxia With Peripheral Neuropathy 0 0
Cerebellar Ataxia - Hypogonadism 0 0
Cerebellar Ataxia - Ectodermal Dysplasia 0 0
Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss 0 0
Brain Tumor Ataxia 0 0
Brachydactyly - Nystagmus - Cerebellar Ataxia 0 0
Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia 0 0
Autosomal Recessive Syndromic Cerebellar Ataxia 0 0
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy 0 0
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay 0 0
Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria 0 0
Autosomal Recessive Spastic Ataxia 0 0
Autosomal Recessive Metabolic Cerebellar Ataxia 0 0
Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine 0 0
Autosomal Recessive Ataxia, Beauce Type 0 0
Autosomal Recessive Ataxia Due to Ubiquinone Deficiency 0 0
Autosomal Recessive Ataxia Due to PEX10 Deficiency 0 0
Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia 0 0
Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency 0 0
Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency 0 0
Autosomal Recessive Congenital Cerebellar Ataxia 0 0
Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome 0 0
Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency 0 0
Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency 0 0
Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency 0 0
Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome 0 0
Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity 0 0
Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency 0 0
Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect 0 0
Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion 0 0
Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation 0 0
Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness 0 0
Autosomal Recessive Cerebellar Ataxia 0 0
Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly 0 0
Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation 0 0
Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy 0 0
Autosomal Dominant Spastic Ataxia Type 1 0 0
Autosomal Dominant Spastic Ataxia 0 0
Autosomal Dominant Optic Atrophy 0 0
Ataxia-telangiectasia Variant 0 0
Ataxia-telangiectasia 0 0
Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy 0 0
Autosomal Dominant Cerebellar Ataxia Type 4 0 0
Autosomal Dominant Cerebellar Ataxia Type 3 0 0
Autosomal Dominant Cerebellar Ataxia Type 2 0 0
Autosomal Dominant Cerebellar Ataxia Type 1 0 0
Autosomal Dominant Cerebellar Ataxia 0 0
Ataxia-telangiectasia-like Disorder 0 0
Ataxia With Vitamin E Deficiency 0 0
Ataxia With Dementia 0 0
Ataxia - Oculomotor Apraxia Type 1 0 0
Ataxia - Other 0 0
Ataxia - Genetic Diagnosis - Unknown 0 0
Acquired Ataxia 0 0
Adult-onset Autosomal Recessive Cerebellar Ataxia 0 0
Alcohol Related Ataxia 0 0
Multiple Endocrine Neoplasia 0 0
Multiple Endocrine Neoplasia Type II 0 0
Multiple Endocrine Neoplasia Type 1 0 0
Multiple Endocrine Neoplasia Type 2 0 0
Multiple Endocrine Neoplasia, Type IV 0 0
Multiple Endocrine Neoplasia, Type 3 0 0
Multiple Endocrine Neoplasia (MEN) Syndrome 0 0
Multiple Endocrine Neoplasia Type 2B 0 0
Multiple Endocrine Neoplasia Type 2A 0 0
Atypical Hemolytic Uremic Syndrome 0 0
Atypical HUS 0 0
Wiedemann-Steiner Syndrome 0 0
Breast Implant-Associated Anaplastic Large Cell Lymphoma 0 0
Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA) 0 0
Hemophagocytic Lymphohistiocytosis 0 0
Behcet's Disease 0 0
Alagille Syndrome 0 0
Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD) 0 0
Lowe Syndrome 0 0
Pitt Hopkins Syndrome 0 0
1p36 Deletion Syndrome 0 0
Jansen Type Metaphyseal Chondrodysplasia 0 0
Cockayne Syndrome 0 0
Chronic Recurrent Multifocal Osteomyelitis 0 0
CRMO 0 0
Malan Syndrome 0 0
Hereditary Sensory and Autonomic Neuropathy Type Ie 0 0
VCP Disease 0 0
Hypnic Jerking 0 0
Sleep Myoclonus 0 0
Mollaret Meningitis 0 0
Recurrent Viral Meningitis 0 0
CRB1 0 0
Leber Congenital Amaurosis 0 0
Retinitis Pigmentosa 0 0
Rare Retinal Disorder 0 0
KCNMA1-Channelopathy 0 0
Primary Biliary Cirrhosis 0 0
ZMYND11 0 0
Transient Global Amnesia 0 0
Glycogen Storage Disease 0 0
Alstrom Syndrome 0 0
White Sutton Syndrome 0 0
DNM1 0 0
EIEE31 0 0
Myhre Syndrome 0 0
Recurrent Respiratory Papillomatosis 0 0
Laryngeal Papillomatosis 0 0
Tracheal Papillomatosis 0 0
Refsum Disease 0 0
Nicolaides Baraitser Syndrome 0 0
Leukodystrophy 0 0
Tango2 0 0
Cauda Equina Syndrome 0 0
Rare Gastrointestinal Disorders 0 0
Achalasia-Addisonian Syndrome 0 0
Achalasia Cardia 0 0
Achalasia Icrocephaly Syndrome 0 0
Anal Fistula 0 0
Congenital Sucrase-Isomaltase Deficiency 0 0
Eosinophilic Gastroenteritis 0 0
Idiopathic Gastroparesis 0 0
Hirschsprung Disease 0 0
Rare Inflammatory Bowel Disease 0 0
Intestinal Pseudo-Obstruction 0 0
Scleroderma 0 0
Short Bowel Syndrome 0 0
Sacral Agenesis 0 0
Sacral Agenesis Syndrome 0 0
Caudal Regression 0 0
Scheuermann Disease 0 0
SMC1A Truncated Mutations (Causing Loss of Gene Function) 0 0
Cystinosis 0 0
Juvenile Nephropathic Cystinosis 0 0
Nephropathic Cystinosis 0 0
Kennedy Disease 0 0
Spinal Bulbar Muscular Atrophy 0 0
Warburg Micro Syndrome 0 0
Mucolipidoses 0 0
Mitochondrial Diseases 0 0
Mitochondrial Aminoacyl-tRNA Synthetases 0 0
Mt-aaRS Disorders 0 0
Hypertrophic Olivary Degeneration 0 0
Non-Ketotic Hyperglycinemia 0 0
Fish Odor Syndrome 0 0
Halitosis 0 0
Isolated Congenital Asplenia 0 0
Lambert Eaton (LEMS) 0 0
Biliary Atresia 0 0
STAG1 Gene Mutation 0 0
Coffin Lowry Syndrome 0 0
Borjeson-Forssman-Lehman Syndrome 0 0
Blau Syndrome 0 0
Arginase 1 Deficiency 0 0
HSPB8 Myopathy 0 0
Beta-Mannosidosis 0 0
TBX4 Syndrome 0 0
DHDDS Gene Mutations 0 0
MAND-MBD5-Associated Neurodevelopmental Disorder 0 0
Constitutional Mismatch Repair Deficiency (CMMRD) 0 0
SPATA5 Disorder 0 0
SPATA5L1 Related Disorder 0 0
Condition category
Condition code
Musculoskeletal 0 0 0 0
Other muscular and skeletal disorders
Inflammatory and Immune System 0 0 0 0
Other inflammatory or immune system disorders
Infection 0 0 0 0
Studies of infection and infectious agents
Infection 0 0 0 0
Other infectious diseases
Neurological 0 0 0 0
Other neurological disorders
Inflammatory and Immune System 0 0 0 0
Autoimmune diseases
Cancer 0 0 0 0
Lymphoma (non Hodgkin's lymphoma) - High grade lymphoma
Cancer 0 0 0 0
Lymphoma (non Hodgkin's lymphoma) - Low grade lymphoma
Cancer 0 0 0 0
Sarcoma (also see 'Bone') - soft tissue
Cancer 0 0 0 0
Other cancer types
Metabolic and Endocrine 0 0 0 0
Other endocrine disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Renal and Urogenital 0 0 0 0
Other renal and urogenital disorders
Inflammatory and Immune System 0 0 0 0
Rheumatoid arthritis
Metabolic and Endocrine 0 0 0 0
Metabolic disorders
Neurological 0 0 0 0
Neurodegenerative diseases
Musculoskeletal 0 0 0 0
Osteoarthritis
Oral and Gastrointestinal 0 0 0 0
Other diseases of the mouth, teeth, oesophagus, digestive system including liver and colon
Cardiovascular 0 0 0 0
Other cardiovascular diseases
Inflammatory and Immune System 0 0 0 0
Allergies
Cardiovascular 0 0 0 0
Other cardiovascular diseases
Skin 0 0 0 0
Other skin conditions
Ear 0 0 0 0
Deafness
Ear 0 0 0 0
Other ear disorders
Neurological 0 0 0 0
Dementias
Neurological 0 0 0 0
Alzheimer's disease
Neurological 0 0 0 0
Epilepsy
Mental Health 0 0 0 0
Learning disabilities
Mental Health 0 0 0 0
Other mental health disorders
Injuries and Accidents 0 0 0 0
Other injuries and accidents
Eye 0 0 0 0
Diseases / disorders of the eye
Cardiovascular 0 0 0 0
Diseases of the vasculature and circulation including the lymphatic system
Blood 0 0 0 0
Anaemia
Blood 0 0 0 0
Other blood disorders
Renal and Urogenital 0 0 0 0
Kidney disease
Cardiovascular 0 0 0 0
Diseases of the vasculature and circulation including the lymphatic system
Blood 0 0 0 0
Haematological diseases
Reproductive Health and Childbirth 0 0 0 0
Fetal medicine and complications of pregnancy
Metabolic and Endocrine 0 0 0 0
Other metabolic disorders
Diet and Nutrition 0 0 0 0
Other diet and nutrition disorders
Other 0 0 0 0
Research that is not of generic health relevance and not applicable to specific health categories listed above
Other 0 0 0 0
Conditions of unknown or disputed aetiology (such as chronic fatigue syndrome/myalgic encephalomyelitis)

Intervention/exposure
Study type
Observational [Patient Registry]
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
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.
Timepoint [1] 0 0
100 years

Eligibility
Key inclusion criteria
* Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare/uncommon disease
Minimum age
No limit
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
* Diagnosis of a disease which is not rare

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
1/07/2010
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
1/12/2100
Actual
Sample size
Target
20000
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
Recruitment hospital [1] 0 0
Online Patient Enrollment System - Sydney
Recruitment postcode(s) [1] 0 0
- Sydney
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
South Dakota

Funding & Sponsors
Primary sponsor type
Other
Name
Sanford Health
Address
Country
Other collaborator category [1] 0 0
Other
Name [1] 0 0
National Ataxia Foundation
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
International WAGR Syndrome Association
Address [2] 0 0
Country [2] 0 0
Other collaborator category [3] 0 0
Other
Name [3] 0 0
4p- Support Group
Address [3] 0 0
Country [3] 0 0
Other collaborator category [4] 0 0
Other
Name [4] 0 0
ML4 Foundation
Address [4] 0 0
Country [4] 0 0
Other collaborator category [5] 0 0
Other
Name [5] 0 0
Cornelia de Lange Syndrome Foundation
Address [5] 0 0
Country [5] 0 0
Other collaborator category [6] 0 0
Other
Name [6] 0 0
Stickler Involved People
Address [6] 0 0
Country [6] 0 0
Other collaborator category [7] 0 0
Other
Name [7] 0 0
Kawasaki Disease Foundation
Address [7] 0 0
Country [7] 0 0
Other collaborator category [8] 0 0
Other
Name [8] 0 0
Klippel-Feil Syndrome Alliance
Address [8] 0 0
Country [8] 0 0
Other collaborator category [9] 0 0
Other
Name [9] 0 0
Klippel-Feil Syndrome Freedom
Address [9] 0 0
Country [9] 0 0
Other collaborator category [10] 0 0
Other
Name [10] 0 0
Hyperacusis Research Limited
Address [10] 0 0
Country [10] 0 0
Other collaborator category [11] 0 0
Other
Name [11] 0 0
Hypersomnia Foundation
Address [11] 0 0
Country [11] 0 0
Other collaborator category [12] 0 0
Other
Name [12] 0 0
Kabuki Syndrome Network
Address [12] 0 0
Country [12] 0 0
Other collaborator category [13] 0 0
Other
Name [13] 0 0
Kleine-Levin Syndrome Foundation
Address [13] 0 0
Country [13] 0 0
Other collaborator category [14] 0 0
Other
Name [14] 0 0
Leiomyosarcoma Direct Research Foundation
Address [14] 0 0
Country [14] 0 0
Other collaborator category [15] 0 0
Other
Name [15] 0 0
Marinesco-Sjogren Syndrome Support Group - NORD
Address [15] 0 0
Country [15] 0 0
Other collaborator category [16] 0 0
Other
Name [16] 0 0
Mucolipidosis Type IV (ML4) Foundation
Address [16] 0 0
Country [16] 0 0
Other collaborator category [17] 0 0
Other
Name [17] 0 0
People with Narcolepsy 4 People with Narcolepsy (PWN4PWN)
Address [17] 0 0
Country [17] 0 0
Other collaborator category [18] 0 0
Other
Name [18] 0 0
Soft Bones Incorporated
Address [18] 0 0
Country [18] 0 0
Other collaborator category [19] 0 0
Other
Name [19] 0 0
American Multiple Endocrine Neoplasia Support
Address [19] 0 0
Country [19] 0 0
Other collaborator category [20] 0 0
Other
Name [20] 0 0
Atypical Hemolytic Uremic Syndrome Foundation
Address [20] 0 0
Country [20] 0 0
Other collaborator category [21] 0 0
Other
Name [21] 0 0
All Things Kabuki
Address [21] 0 0
Country [21] 0 0
Other collaborator category [22] 0 0
Other
Name [22] 0 0
Wiedemann-Steiner Syndrome Foundation
Address [22] 0 0
Country [22] 0 0
Other collaborator category [23] 0 0
Other
Name [23] 0 0
Breast Implant Victim Advocates
Address [23] 0 0
Country [23] 0 0
Other collaborator category [24] 0 0
Other
Name [24] 0 0
PROS Foundation
Address [24] 0 0
Country [24] 0 0
Other collaborator category [25] 0 0
Other
Name [25] 0 0
American Behcet's Disease Association
Address [25] 0 0
Country [25] 0 0
Other collaborator category [26] 0 0
Other
Name [26] 0 0
Alstrom United Kingdom
Address [26] 0 0
Country [26] 0 0
Other collaborator category [27] 0 0
Other
Name [27] 0 0
Athymia
Address [27] 0 0
Country [27] 0 0
Other collaborator category [28] 0 0
Other
Name [28] 0 0
Curing Retinal Blindness Foundation
Address [28] 0 0
Country [28] 0 0
Other collaborator category [29] 0 0
Other
Name [29] 0 0
HSAN1E Society
Address [29] 0 0
Country [29] 0 0
Other collaborator category [30] 0 0
Other
Name [30] 0 0
1p36 Deletion Support and Awareness
Address [30] 0 0
Country [30] 0 0
Other collaborator category [31] 0 0
Other
Name [31] 0 0
The Alagille Syndrome Alliance
Address [31] 0 0
Country [31] 0 0
Other collaborator category [32] 0 0
Other
Name [32] 0 0
Autoinflammatory Alliance
Address [32] 0 0
Country [32] 0 0
Other collaborator category [33] 0 0
Other
Name [33] 0 0
Beyond Batten Disease Foundation
Address [33] 0 0
Country [33] 0 0
Other collaborator category [34] 0 0
Other
Name [34] 0 0
Bohring-Opitz Syndrome Foundation, INC
Address [34] 0 0
Country [34] 0 0
Other collaborator category [35] 0 0
Other
Name [35] 0 0
Cockayne Syndrome Network (Share and Care)
Address [35] 0 0
Country [35] 0 0
Other collaborator category [36] 0 0
Other
Name [36] 0 0
CRMO Foundation
Address [36] 0 0
Country [36] 0 0
Other collaborator category [37] 0 0
Other
Name [37] 0 0
Cure VCP Disease,INC
Address [37] 0 0
Country [37] 0 0
Other collaborator category [38] 0 0
Other
Name [38] 0 0
FOD Support
Address [38] 0 0
Country [38] 0 0
Other collaborator category [39] 0 0
Other
Name [39] 0 0
Cystinosis Research Foundation
Address [39] 0 0
Country [39] 0 0
Other collaborator category [40] 0 0
Other
Name [40] 0 0
Global DARE Foundation
Address [40] 0 0
Country [40] 0 0
Other collaborator category [41] 0 0
Other
Name [41] 0 0
Hypnic Jerk-Sleep Myoclonus Support Group
Address [41] 0 0
Country [41] 0 0
Other collaborator category [42] 0 0
Other
Name [42] 0 0
Jansen's Foundation
Address [42] 0 0
Country [42] 0 0
Other collaborator category [43] 0 0
Other
Name [43] 0 0
KCNMA1 Channelopathy International Advocacy Foundation
Address [43] 0 0
Country [43] 0 0
Other collaborator category [44] 0 0
Other
Name [44] 0 0
Kawasaki Disease Foundation Australia
Address [44] 0 0
Country [44] 0 0
Other collaborator category [45] 0 0
Other
Name [45] 0 0
Life with LEMS Foundation
Address [45] 0 0
Country [45] 0 0
Other collaborator category [46] 0 0
Other
Name [46] 0 0
Lowe Syndrome Association
Address [46] 0 0
Country [46] 0 0
Other collaborator category [47] 0 0
Other
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The Malan Syndrome Foundation
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Maple Syrup Urine Disease Family Support Group
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International Association for Muscle Glycogen Storage Disease (IamGSD)
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Myhre Syndrome Foundation
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DNM1 Families
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Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation
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The PBCers Organization
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Pitt Hopkins Research Foundation
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Recurrent Meningitis Association
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Recurrent Respiratory Papillomatosis Foundation
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Remember the Girls
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Smith-Kingsmore Syndrome Foundation
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SPG Research Foundation
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Team Telomere
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Transient Global Amnesia Project
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The Charlotte & Gwenyth Gray Foundation
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The Cute Syndrome Foundation
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The Maddi Foundation
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White Sutton Syndrome Foundation
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Zmynd11 Gene Disorder
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Cauda Equina Foundation, Inc
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Tango2 Research Foundation
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Noah's Hope - Hope4Bridget Foundation
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Project Sebastian
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SMC1A Epilepsy Foundation
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International Foundation for Gastrointestinal Disorders
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Scheuermann's Disease Fund
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Batten Disease Support and Research Association
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Kennedy's Disease Association
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Cure Mito Foundation
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Warburg Micro Research Foundation
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Cure Mucolipidosis
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Riaan Research Initiative
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CureARS A NJ Nonprofit Corporation
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CACNA1H Alliance
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IMBS Alliance
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SHINE-Syndrome Foundaion
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National Organization for Disorders of the Corpus Callosum (NODCC)
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Team4Travis
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Taylor's Tale Foundation
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Lambert Eaton (LEMS) Family Association
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BARE Inc
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STAG1 Gene Foundation
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Coffin Lowry Syndrome Foundation
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BLFS Incorporate
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Aniridia North America
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Cure Blau Syndrome Foundation
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ARG1D Foundation
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CURE HSPB8 Myopathy
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International Society of Mannosidosis and Related Disorders
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TBX4Life
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Cure DHDDS
Address [102] 0 0
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Other
Name [103] 0 0
MANDKind Foundation
Address [103] 0 0
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Other
Name [104] 0 0
Krishnan Family Foundation
Address [104] 0 0
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Other collaborator category [105] 0 0
Other
Name [105] 0 0
SPATA Foundation
Address [105] 0 0
Country [105] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
CoRDS Team
Address 0 0
Country 0 0
Phone 0 0
1-877-658-9192
Fax 0 0
Email 0 0
[email protected]
Contact person for scientific queries

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
Yes
What data in particular will be shared?
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/.
When will data be available (start and end dates)?
Available to whom?
Available for what types of analyses?
How or where can data be obtained?


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

No documents have been uploaded by study researchers.


Results not provided in https://clinicaltrials.gov/study/NCT01793168