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

Retinitis Pigmentosa Clinical Trial

Official title: Coordination of Rare Diseases at Sanford

Status Recruiting

Clinical Trial 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.

Clinical Trial 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. ;

Related Conditions & MeSH terms

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

• NCT number: NCT01793168
• Study type: Observational [Patient Registry]
• Source: Sanford Health
• Contact: CoRDS Team
• Phone: 1-877-658-9192
• Email: cords@sanfordhealth.org
• Status: Recruiting
• Start date: July 2010
• Completion date: December 2100