Recruitment

Recruitment Status
Recruiting
Estimated Enrollment
1000

Summary

Conditions
  • Achalasia Icrocephaly Syndrome
  • Achalasia Cardia
  • 1p36 Deletion Syndrome
  • Ataxia With Dementia
  • Stickler Syndrome Type 2
  • Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity
  • Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency
  • Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia
  • Spinocerebellar Ataxia Type 16
  • Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria
  • Cerebellar Ataxia, Cayman Type
  • Multiple Endocrine Neoplasia Type 2
  • Spinocerebellar Ataxia Type 1 With Axonal Neuropathy
  • Autosomal Dominant Cerebellar Ataxia Type 3
  • Episodic Ataxia Type 4
  • Multiple System Atrophy, Parkinsonian Type
  • EIEE31
  • KCNMA1-Channelopathy
  • Multiple Endocrine Neoplasia Type 2A
  • Rare Hereditary Ataxia
  • Spinocerebellar Ataxia Type 27
  • Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
  • Cornelia de Lange Syndrome
  • Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion
  • Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
  • Hereditary Sensory and Autonomic Neuropathy Type Ie
  • Spinocerebellar Ataxia With Oculomotor Anomaly
  • Episodic Ataxia Type 6
  • Isolated Aniridia
  • Autosomal Recessive Ataxia, Beauce Type
  • Ataxia-telangiectasia-like Disorder
  • Cataract - Ataxia - Deafness
  • Post-Head Injury Ataxia
  • Syndromic Aniridia
  • Spasticity-ataxia-gait Anomalies Syndrome
  • Disorders of Unknown Prevalence
  • Kawasaki Disease
  • Peters Anomaly - Cataract
  • Spinocerebellar Ataxia Type 37
  • Undiagnosed Disorders
  • Spinocerebellar Ataxia Type 3
  • Spinocerebellar Ataxia Type 14
  • Maternally-inherited Leigh Syndrome
  • Post-Stroke Ataxia
  • Myhre Syndrome
  • Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness
  • Multiple Endocrine Neoplasia Type 1
  • Scheuermann Disease
  • Episodic Ataxia Type 3
  • Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)
  • Aniridia - Cerebellar Ataxia - Intellectual Disability
  • Autosomal Dominant Spastic Ataxia Type 1
  • Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)
  • Infection or Post Infection Ataxia
  • Ataxia Telangiectasia
  • Spinocerebellar Ataxia Type 25
  • Denys-Drash Syndrome
  • DNM1
  • Stickler Syndrome
  • Spinocerebellar Ataxia Type 30
  • Spinocerebellar Ataxia With Epilepsy
  • Friedreich Ataxia
  • Leiomyosarcoma
  • Rare Gastrointestinal Disorders
  • Spinocerebellar Ataxia Type 11
  • Toxic Exposure Ataxia
  • Autosomal Recessive Cerebellar Ataxia
  • X-linked Spinocerebellar Ataxia Type 3
  • Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
  • 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome
  • Early-onset Cerebellar Ataxia With Retained Tendon Reflexes
  • Thyroid Antibody Ataxia
  • Early-onset Spastic Ataxia-neuropathy Syndrome
  • Jansen Type Metaphyseal Chondrodysplasia
  • Silver-Russell Syndrome Due to 11p15 Microduplication
  • Multiple Endocrine Neoplasia, Type 3
  • Sacral Agenesis Syndrome
  • Spinocerebellar Ataxia Type 20
  • CRMO
  • Leber Congenital Amaurosis
  • Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
  • Eosinophilic Gastroenteritis
  • GAD Ataxia
  • Refsum Disease
  • X-linked Non Progressive Cerebellar Ataxia
  • Multiple System Atrophy
  • Posterior Column Ataxia - Retinitis Pigmentosa
  • Sacral Agenesis
  • Gliadin/Gluten Ataxia
  • Primary Biliary Cirrhosis
  • Leiomyosarcoma of the Corpus Uteri
  • Mucolipidosis Type 4
  • Isolated Klippel-Feil Syndrome
  • Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation
  • Leiomyosarcoma of the Cervix Uteri
  • Spastic Ataxia
  • Axenfeld-Rieger Syndrome
  • Ataxia - Other
  • Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy
  • Childhood-onset Hypophosphatasia
  • Spastic Ataxia - Corneal Dystrophy
  • 4p16.3 Microduplication Syndrome
  • Achalasia-Addisonian Syndrome
  • Acquired Ataxia
  • Acquired Myasthenia Gravis
  • Episodic Ataxia Unknown Type
  • Spastic Ataxia With Congenital Miosis
  • Recurrent Viral Meningitis
  • Spinocerebellar Ataxia Type 8
  • Ataxia - Oculomotor Apraxia Type 1
  • Addison Disease
  • Aniridia
  • X-linked Progressive Cerebellar Ataxia
  • Lowe Syndrome
  • Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency
  • Emanuel Syndrome
  • Aniridia - Absent Patella
  • Ataxia - Genetic Diagnosis - Unknown
  • Autosomal Recessive Metabolic Cerebellar Ataxia
  • Behcet's Disease
  • White Sutton Syndrome
  • Autosomal Recessive Congenital Cerebellar Ataxia
  • Frasier Syndrome
  • Spinocerebellar Ataxia Type 23
  • Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract
  • Spinocerebellar Ataxia Type 7
  • Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11
  • Juvenile Myasthenia Gravis
  • Multiple Endocrine Neoplasia, Type IV
  • Potocki-Shaffer Syndrome
  • Rare Retinal Disorder
  • Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss
  • Spinocerebellar Ataxia Type 28
  • Tango2
  • Idiopathic Hypersomnia Without Long Sleep Time
  • Williams Syndrome
  • SMC1A Loss of Function Epilepsy
  • Aniridia-intellectual Disability Syndrome
  • Spinocerebellar Ataxia Type 15/16
  • Machado-Joseph Disease Type 3
  • Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)
  • Transient Global Amnesia
  • Transient Neonatal Myasthenia Gravis
  • Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency
  • Multiple System Atrophy, Cerebellar Type
  • Idiopathic Gastroparesis
  • Spinocerebellar Ataxia Type 18
  • X-linked Cerebellar Ataxia
  • X-linked Intellectual Disability - Ataxia - Apraxia
  • Spinocerebellar Ataxia With Axonal Neuropathy Type 2
  • Nicolaides Baraitser Syndrome
  • Chronic Recurrent Multifocal Osteomyelitis
  • Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine
  • Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency
  • Spinocerebellar Ataxia Type 19/22
  • Unclassified Autosomal Dominant Spinocerebellar Ataxia
  • Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity
  • Spinocerebellar Ataxia Type 6
  • Aniridia - Renal Agenesis - Psychomotor Retardation
  • Alström Syndrome
  • Multiple Endocrine Neoplasia Type 2B
  • Episodic Ataxia Type 1
  • Episodic Ataxia Type 5
  • Glycogen Storage Disease
  • Hereditary Episodic Ataxia
  • Spinocerebellar Ataxia Type 13
  • Idiopathic Hypersomnia
  • Episodic Ataxia With Slurred Speech
  • Stickler Syndrome Type 1
  • Silver-Russell Syndrome Due to Imprinting Defect of 11p15
  • Autosomal Dominant Optic Atrophy
  • Autosomal Recessive Ataxia Due to Ubiquinone Deficiency
  • Spinocerebellar Ataxia Type 17
  • Myoclonus - Cerebellar Ataxia - Deafness
  • Olivopontocerebellar Atrophy - Deafness
  • Aniridia - Ptosis - Intellectual Disability - Familial Obesity
  • Atypical Hemolytic Uremic Syndrome
  • Autosomal Dominant Spastic Ataxia
  • Caudal Regression
  • Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity
  • Non-hereditary Degenerative Ataxia
  • Rare Inflammatory Bowel Disease
  • Short Bowel Syndrome
  • Congenital Sucrase-Isomaltase Deficiency
  • Laryngeal Papillomatosis
  • Machado-Joseph Disease Type 1
  • Autosomal Recessive Stickler Syndrome
  • Ataxia-telangiectasia Variant
  • Alagille Syndrome
  • Alcohol Related Ataxia
  • Autosomal Dominant Cerebellar Ataxia Type 1
  • Breast Implant-Associated Anaplastic Large Cell Lymphoma
  • Cauda Equina Syndrome
  • Hirschsprung Disease
  • Recessive Mitochondrial Ataxia Syndrome
  • VCP Disease
  • Spinocerebellar Ataxia Type 1
  • Hypersomnolence Disorder
  • Infantile Hypophosphatasia
  • Mollaret Meningitis
  • Kleine-Levin Syndrome
  • Autosomal Recessive Ataxia Due to PEX10 Deficiency
  • Autosomal Dominant Cerebellar Ataxia Type 2
  • Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly
  • Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia
  • Hemophagocytic Lymphohistiocytosis
  • Recurrent Respiratory Papillomatosis
  • Spinocerebellar Ataxia Type 31
  • Spinocerebellar Ataxia Type 2
  • Fragile X-associated Tremor/Ataxia Syndrome
  • Cerebellar Ataxia - Ectodermal Dysplasia
  • Epilepsy and/or Ataxia With Myoclonus as Major Feature
  • Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome
  • Hyperacusis (Hyperacousis)
  • Peters Anomaly
  • Multiple Endocrine Neoplasia (MEN) Syndrome
  • Exposure to Medications Ataxia
  • Multiple Endocrine Neoplasia
  • Machado-Joseph Disease Type 2
  • Narcolepsy Without Cataplexy
  • Spinocerebellar Ataxia - Dysmorphism
  • Brachydactyly - Nystagmus - Cerebellar Ataxia
  • Episodic Ataxia Type 7
  • Leigh Syndrome
  • Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus
  • Rare Disorders
  • Hypnic Jerking
  • Spinocerebellar Ataxia Type 10
  • Spinocerebellar Ataxia Type 35
  • Lyme Disease
  • Spinocerebellar Ataxia Type 12
  • Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
  • Ataxia With Vitamin E Deficiency
  • Leiomyosarcoma of Small Intestine
  • WAGR Syndrome
  • Pitt Hopkins Syndrome
  • Adult Hypophosphatasia
  • Autosomal Dominant Cerebellar Ataxia
  • Sleep Myoclonus
  • Spinocerebellar Ataxia Type 4
  • Perinatal Lethal Hypophosphatasia
  • Scleroderma
  • Spinocerebellar Ataxia Type 32
  • Atypical HUS
  • Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome
  • Brain Tumor Ataxia
  • NARP Syndrome
  • Autosomal Recessive Spastic Ataxia
  • Leukodystrophy
  • Tracheal Papillomatosis
  • Prenatal Benign Hypophosphatasia
  • Post Vaccination Ataxia
  • Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency
  • Autosomal Dominant Cerebellar Ataxia Type 4
  • Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency
  • Spinocerebellar Ataxia Type 21
  • Cockayne Syndrome
  • Hypophosphatasia
  • Malan Syndrome
  • Spinocerebellar Ataxia Type 36
  • Adult-onset Autosomal Recessive Cerebellar Ataxia
  • Beckwith-Wiedemann Syndrome
  • Cerebellar Ataxia With Peripheral Neuropathy
  • Kabuki Syndrome
  • Familial Paroxysmal Ataxia
  • Idiopathic Hypersomnia With Long Sleep Time
  • Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect
  • Myasthenia Gravis
  • Spinocerebellar Ataxia Type 34
  • Narcolepsy-cataplexy
  • Odontohypophosphatasia
  • Retinitis Pigmentosa
  • Multiple Endocrine Neoplasia Type II
  • X-linked Spinocerebellar Ataxia Type 4
  • Rare Ataxia
  • Wolf-Hirschhorn Syndrome
  • Intestinal Pseudo-Obstruction
  • Spinocerebellar Ataxia Type 22
  • Late-onset Ataxia With Dementia
  • Cerebellar Ataxia - Hypogonadism
  • Dilated Cardiomyopathy With Ataxia
  • Sporadic Adult-onset Ataxia of Unknown Etiology
  • Wiedemann-Steiner Syndrome
  • Autosomal Recessive Syndromic Cerebellar Ataxia
  • Anal Fistula
  • Bohring-Opitz Syndrome
  • Spinocerebellar Ataxia - Unknown
  • Spinocerebellar Ataxia Type 26
  • Spinocerebellar Ataxia Type 29
  • Early-onset Ataxia With Dementia
  • Vitamin B12 Deficiency Ataxia
  • Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation
  • ZMYND11
  • CRB1
  • Spinocerebellar Ataxia Type 5
  • Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy
Design
Observational Model: Case-OnlyTime Perspective: Prospective

Participation Requirements

Age
Younger than 125 years
Gender
Both males and females

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, Mailin...

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.

Tracking Information

NCT #
NCT01793168
Collaborators
  • National Ataxia Foundation
  • 4p- Support Group
  • International WAGR Syndrome Association
  • People with Narcolepsy 4 People with Narcolepsy (PWN4PWN)
  • American Behcet's Disease Association
  • SMC1A Epilepsy Foundation
  • Recurrent Meningitis Association
  • Team Telomere
  • Cauda Equina Foundation, Inc
  • Cockayne Syndrome Network (Share and Care)
  • Lowe Syndrome Association
  • All Things Kabuki
  • Smith-Kingsmore Syndrome Foundation
  • FOD Support
  • Noah's Hope - Hope4Bridget Foundation
  • The Maddi Foundation
  • Myhre Syndrome Foundation
  • ML4 Foundation
  • Cornelia de Lange Syndrome Foundation
  • Leiomyosarcoma Direct Research Foundation
  • SPG Research Foundation
  • Kawasaki Disease Foundation Australia
  • The PBCers Organization
  • Kabuki Syndrome Network
  • Progressive Familial Intrahepatic Cholestasis Advocacy and Resource Network, Inc
  • The Malan Syndrome Foundation
  • Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation
  • Mucolipidosis Type IV (ML4) Foundation
  • Global DARE Foundation
  • Stickler Involved People
  • HSAN1E Society
  • Jansen's Foundation
  • Zmynd11 Gene Disorder
  • Recurrent Respiratory Papillomatosis Foundation
  • PROS Foundation
  • CRMO Foundation
  • Transient Global Amnesia Project
  • Remember the Girls
  • Pitt Hopkins Research Foundation
  • 1p36 Deletion Support and Awareness
  • Autoinflammatory Alliance
  • Kawasaki Disease Foundation
  • Klippel-Feil Syndrome Alliance
  • Wiedemann-Steiner Syndrome Foundation
  • KCNMA1 Channelopathy International Advocacy Foundation
  • Endosalpingiosis Foundation, Inc
  • Athymia
  • Kleine-Levin Syndrome Foundation
  • Cystinosis Research Foundation
  • Tango2 Research Foundation
  • International Sacral Agenesis/Caudal Regression Association (ISACRA)
  • Atypical Hemolytic Uremic Syndrome Foundation
  • Klippel-Feil Syndrome Freedom
  • Marinesco-Sjogren Syndrome Support Group - NORD
  • Cure VCP Disease,INC
  • Project Sebastian
  • White Sutton Syndrome Foundation
  • Soft Bones Incorporated
  • Life with LEMS Foundation
  • The Charlotte & Gwenyth Gray Foundation
  • Alstrom United Kingdom
  • Hyperacusis Research Limited
  • The Cute Syndrome Foundation
  • Hypnic Jerk-Sleep Myoclonus Support Group
  • International Association for Muscle Glycogen Storage Disease (IamGSD)
  • Curing Retinal Blindness Foundation
  • International Foundation for Gastrointestinal Disorders
  • Beyond Batten
  • Hypersomnia Foundation
  • Scheuermann's Disease Fund
  • DNM1 Families
  • The Alagille Syndrome Alliance
  • Maple Syrup Urine Disease Family Support Group
  • American Multiple Endocrine Neoplasia Support
  • Breast Implant Victim Advocates
  • Bohring-Opitz Syndrome Foundation, INC
Investigators
Not Provided
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