Inherited Retinal Degenerative Disease Registry

Descriptive Information
Brief Title † Inherited Retinal Degenerative Disease Registry
Official Title † Foundation Fighting Blindness Registry, My Retina Tracker
Brief Summary My Retina Tracker™ is a registry for people affected by an inherited retinal degenerative disease. It is a patient-initiated registry accessible via a secure on-line portal at Affected individuals and genetically related, unaffected, family members who create entries are guided to create a profile that captures the participants': perspective on their disease and its progress; family history; genetic testing results; preventive measures; 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 are: to better understand the heterogeneity of the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene mutations; 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 mechanism that facilitates more rapid recruitment for research studies and clinical trials.
Detailed Description My Retina Tracker provides three different portals for data entry and review. An entry in My Retina Tracker is initiated by a participant, not a clinician. Using the Participant Portal, the participant establishes a username and password, is guided through on-line informed consent, and can then use an interactive guide to record their ophthalmic and family history, genotype and other subjective diagnosis-related information. Drop-down menus and standardized vocabulary are used for database consistency. They may also attach documents, such as medical records, and use a Note function to maintain personal notes on their disease. Participants are encouraged to update their profiles regularly to create a longitudinal history of their disease. Participants can see aggregated data for all other participants in the registry and compare their own disease and status to others. Once a participant profile has been established, participants may ask their clinician or genetic counselor to add specific ophthalmic exam and measurement results to the profile. This is done through the Clinical Portal which also uses a series of drop-down menus to expedite entry and standardize data. Clinicians cannot see the participant data when adding the clinical exam data. Participants are encouraged to collect this data at each medical exam, to create a longitudinal clinical data set. Access to de-identified data is available through the Research Portal. Investigators may apply through the site for research access username and password. This access allows searching of both participant provided and clinical data and may also be used to pre-screen registrants as potential participants for research studies or clinical trials. A process that maintains patient anonymity and privacy protection, exists for researchers with Institutional Review Board-approved projects who wish to contact registry participants of interest.
Study Phase N/A
Study Type † Observational [Patient Registry]
Study Design † Time Perspective: Prospective
Primary Outcome Measure † Number of Participants with Rare Diagnoses Within the Inherited Retinal Degenerative Disease Category as Defined by Clinical Evaluation
Secondary Outcome Measure †
Condition † Eye Diseases Hereditary Retinal Disease Achromatopsia Bardet-Biedl Syndrome Bassen-Kornzweig Syndrome Batten Disease Best Disease Choroidal Dystrophy Choroideremia Cone Dystrophy Cone-Rod Dystrophy Congenital Stationary Night Blindness 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
Intervention †
Study Arms / Comparison Groups
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 20000
Start Date † June 2014
Completion Date June 2034
Primary Completion Date June 2034
Eligibility Criteria † Inclusion Criteria: - Diagnosed with an inherited retinal degenerative disease OR - Genetically-related to a person diagnosed with an inherited retinal degenerative disease Exclusion Criteria: - Glaucoma - Diabetic retinopathy - Non-retinal disease, - Not heritable retinal disease
Gender Both
Ages N/A - N/A
Accepts Healthy Volunteers Accepts Healthy Volunteers
Contacts †† Registry Coordinator, 800-683-5555,
Location Countries † United States
Administrative Information
NCT ID † NCT02435940
Organization ID FFB-Registry-01
Secondary IDs ††
Responsible Party Sponsor
Study Sponsor † Foundation Fighting Blindness Clinical Research Institute
Collaborators ††
Investigators † Principal Investigator: Brian Mansfield, PhD, Deputy Chief Research Officer
Information Provided By
Verification Date April 2015
First Received Date † April 3, 2015
Last Updated Date May 1, 2015
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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