Inherited Retinal Degenerative Disease Registry

NCT02435940 | Recruiting

• 1 other identifier: FFB-Registry-01
• Study Type: observational
• Target: 20,000
• Locations: 1 country
• Sites: 1

Brief Summary

The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on their retinal disease and its progress; family history; genetic testing results; preventive measures; general health and interest in participation in research studies. The participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. Participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. The overall goals of the Registry are: to better understand the diversity within the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene variants; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a tool to investigators that can assist with recruitment for research studies and clinical trials.

Conditions

Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome; Eye Diseases Hereditary; Congenital Stationary Night Blindness

Keywords

inherited retinal degenerative disease; retinitis pigmentosa; Usher; Leber; Bardet-Biedl; Batten; Best; cone dystrophy; cone-rod dystrophy; choroideremia; congenital night blindness; enhanced s-cone; cone monochromacy; Goldmann-Favre; Kearns-Sayre; Refsum; retinoschisis; rod-cone dystrophy; rod dystrophy; rod monochromacy; Sorsby pseudoinflammatory dystrophy; stargardt; achromatopsia; juvenile inherited macular degeneration; cone dichromacy; cone trichromacy; Charcot-Marie-Tooth; albipunctate dystrophy

Outcome Measures

Primary Outcomes (1)

• Number of Participants with Rare Diagnoses Within the Inherited Retinal Degenerative Disease Category as Defined by Clinical Evaluation

  Participant profiles broken out by disease category and genetic diagnosis

  Data collection is ongoing, up to 20 years.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Affected individuals, all ages including minors registered by their parent or guardian.

You may qualify if:

• Diagnosed with an inherited retinal degenerative disease OR

You may not qualify if:

• Glaucoma only
• Diabetic retinopathy only
• Non-retinal disease
• Not heritable retinal disease

Sponsors & Collaborators

• Foundation Fighting Blindness: lead

Study Sites (1)

Foundation Fighting Blindness

Columbia, Maryland, 21045, United States

RECRUITING

Related Links

• On-line registration site for registry participants, clinicians and researchers
• Sponsor site offers general information about rare inherited retinal degenerative diseases studied by the Foundation.

MeSH Terms

Conditions

Eye Diseases, Hereditary; Retinal Diseases; Color Vision Defects; Bardet-Biedl Syndrome; Abetalipoproteinemia; Neuronal Ceroid-Lipofuscinoses; Vitelliform Macular Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophies; Night blindness, congenital stationary; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Gyrate Atrophy; Stargardt Disease; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Disease; Retinitis Pigmentosa; Retinoschisis; Achromatopsia 3; Usher Syndromes; Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Eye Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Vision Disorders; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Hypothalamic Diseases; Brain Diseases; Central Nervous System Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Hypobetalipoproteinemias; Hypolipoproteinemias; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Lipidoses; Macular Degeneration; Retinal Degeneration; Choroid Diseases; Uveal Diseases; Genetic Diseases, X-Linked; Retinal Dystrophies; Ophthalmoplegia, Chronic Progressive External; Mitochondrial Myopathies; Muscular Diseases; Musculoskeletal Diseases; Ophthalmoplegia; Ocular Motility Disorders; Cranial Nerve Diseases; Paralysis; Neuromuscular Diseases; Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Mitochondrial Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Polyneuropathies; Peripheral Nervous System Diseases; Peroxisomal Disorders; Deaf-Blind Disorders; Deafness; Hearing Loss; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Hearing Loss, Sensorineural; Blindness

Study Officials

• Todd Durham, PhD

  Senior Vice President, Clinical and Outcomes Research

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Registry Coordinator

CONTACT

800-683-5555; Coordinator@MyRetinaTracker.org

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 3, 2015
• First Posted: May 6, 2015
• Study Start: June 1, 2014
• Primary Completion (Estimated): June 1, 2037
• Study Completion (Estimated): June 1, 2037
• Last Updated: May 19, 2026

Record last verified: 2026-05

Locations

US (1)