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Inherited Retinal Degenerative Disease Registry

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2016 by Foundation Fighting Blindness Clinical Research Institute
Information provided by (Responsible Party):
Foundation Fighting Blindness Clinical Research Institute Identifier:
First received: April 3, 2015
Last updated: March 21, 2016
Last verified: March 2016
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.

Eye Diseases Hereditary
Retinal Disease
Bardet-Biedl Syndrome
Bassen-Kornzweig Syndrome
Batten Disease
Best Disease
Choroidal Dystrophy
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
Rod-Cone Dystrophy
Rod Dystrophy
Rod Monochromacy
Stargardt Disease
Usher Syndrome

Study Type: Observational [Patient Registry]
Study Design: Time Perspective: Prospective
Target Follow-Up Duration: 20 Years
Official Title: Foundation Fighting Blindness Registry, My Retina Tracker

Resource links provided by NLM:

Further study details as provided by Foundation Fighting Blindness Clinical Research Institute:

Primary Outcome Measures:
  • Number of Participants with Rare Diagnoses Within the Inherited Retinal Degenerative Disease Category as Defined by Clinical Evaluation [ Time Frame: Data collection is ongoing, up to 20 years. ] [ Designated as safety issue: No ]

Estimated Enrollment: 20000
Study Start Date: June 2014
Estimated Study Completion Date: June 2034
Estimated Primary Completion Date: June 2034 (Final data collection date for primary outcome measure)
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.


Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Affected individuals and close unaffected and genetically related family members

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02435940

Contact: Registry Coordinator 800-683-5555

United States, Maryland
Foundation Fighting Blindness Recruiting
Columbia, Maryland, United States, 21046
Contact: Joan Fisher    800-683-5555   
Principal Investigator: Brian Mansfield, PhD         
Sponsors and Collaborators
Foundation Fighting Blindness Clinical Research Institute
Principal Investigator: Brian Mansfield, PhD Deputy Chief Research Officer
  More Information

Responsible Party: Foundation Fighting Blindness Clinical Research Institute Identifier: NCT02435940     History of Changes
Other Study ID Numbers: FFB-Registry-01 
Study First Received: April 3, 2015
Last Updated: March 21, 2016
Health Authority: United States: Institutional Review Board

Keywords provided by Foundation Fighting Blindness Clinical Research Institute:
inherited retinal degenerative disease
retinitis pigmentosa
cone dystrophy
cone-rod dystrophy
congenital night blindness
enhanced s-cone
cone monochromacy
rod-cone dystrophy
rod dystrophy
rod monochromacy
Sorsby pseudoinflammatory dystrophy
juvenile inherited macular degeneration
cone dichromacy
cone trichromacy
albipunctate dystrophy

Additional relevant MeSH terms:
Macular Degeneration
Retinitis Pigmentosa
Eye Diseases
Retinal Diseases
Color Vision Defects
Neuronal Ceroid-Lipofuscinoses
Leber Congenital Amaurosis
Usher Syndromes
Night Blindness
Eye Diseases, Hereditary
Genetic Diseases, X-Linked
Kearns-Sayre Syndrome
Gyrate Atrophy
Vitamin A Deficiency
Vitelliform Macular Dystrophy
Bardet-Biedl Syndrome
Refsum Disease
Pathologic Processes
Retinal Degeneration
Pathological Conditions, Anatomical
Retinal Dystrophies processed this record on December 02, 2016