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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

Tracking Information
First Submitted Date April 3, 2015
First Posted Date May 6, 2015
Last Update Posted Date December 13, 2018
Study Start Date June 2014
Estimated Primary Completion Date June 2037   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: September 13, 2017)
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
Original Primary Outcome Measures
 (submitted: May 1, 2015)
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. ]
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
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, 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.

Study Type Observational [Patient Registry]
Study Design Observational Model: Other
Time Perspective: Prospective
Target Follow-Up Duration 20 Years
Biospecimen Not Provided
Sampling Method Probability Sample
Study Population Affected individuals and close unaffected and genetically related family members
  • 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 Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: May 1, 2015)
Original Estimated Enrollment Same as current
Estimated Study Completion Date June 2037
Estimated Primary Completion Date June 2037   (Final data collection date for primary outcome measure)
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
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contact: Registry Coordinator 800-683-5555
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT02435940
Other Study ID Numbers FFB-Registry-01
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Foundation Fighting Blindness
Study Sponsor Foundation Fighting Blindness
Collaborators Not Provided
Principal Investigator: Brian Mansfield, PhD Deputy Chief Research Officer
PRS Account Foundation Fighting Blindness
Verification Date December 2018