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Inherited Retinal Degenerative Disease Registry

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02435940
Recruitment Status : Recruiting
First Posted : May 6, 2015
Last Update Posted : December 13, 2018
Information provided by (Responsible Party):
Foundation Fighting Blindness

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.

Condition or disease
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

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, to maintain personal files 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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 20000 participants
Observational Model: Other
Time Perspective: Prospective
Target Follow-Up Duration: 20 Years
Official Title: Foundation Fighting Blindness Registry, My Retina Tracker
Study Start Date : June 2014
Estimated Primary Completion Date : June 2037
Estimated Study Completion Date : June 2037

Primary Outcome Measures :
  1. 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. ]
    Participant profiles broken out be disease category and genetic diagnosis

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02435940

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Contact: Registry Coordinator 800-683-5555

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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
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Principal Investigator: Brian Mansfield, PhD Deputy Chief Research Officer
Additional Information:
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Responsible Party: Foundation Fighting Blindness Identifier: NCT02435940    
Other Study ID Numbers: FFB-Registry-01
First Posted: May 6, 2015    Key Record Dates
Last Update Posted: December 13, 2018
Last Verified: December 2018
Keywords provided by Foundation Fighting Blindness:
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:
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Kearns-Sayre Syndrome
Usher Syndromes
Neuronal Ceroid-Lipofuscinoses
Color Vision Defects
Bardet-Biedl Syndrome
Laurence-Moon Syndrome
Refsum Disease
Macular Degeneration
Eye Diseases
Retinitis Pigmentosa
Retinal Diseases
Leber Congenital Amaurosis
Cone Dystrophy
Cone-Rod Dystrophies
Gyrate Atrophy
Night Blindness
Eye Diseases, Hereditary
Vitamin A Deficiency
Pathologic Processes
Retinal Degeneration
Retinal Dystrophies
Genetic Diseases, Inborn
Vision Disorders