Clinical trial NCT02435940: Inherited Retinal Degenerative Disease Registry
Official title: Foundation Fighting Blindness My Retina Tracker Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: 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
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
Lead sponsor: Foundation Fighting Blindness
Sponsor class: OTHER
First posted: 2015-05-06
Enrollment: 20000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Affected individuals, all ages including minors registered by their parent or guardian.

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.

Detailed description: My Retina Tracker Registry provides two portals for data entry and review. Initial registration in the My Retina Tracker Registry 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 and general health information. Drop-down menus and standardized vocabulary are used for database consistency. They may also attach documents, such as medical records, to maintain their personal medical 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.

After a profile has been established, Registry members 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 or study recruitment assistance is available to qualified investigators who may inquire by contacting Coordinator@MyRetinaTracker.org. 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.

Eligibility criteria: Inclusion Criteria:

* Diagnosed with an inherited retinal degenerative disease OR

Exclusion Criteria:

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

Primary outcomes:
measure: Number of Participants with Rare Diagnoses Within the Inherited Retinal Degenerative Disease Category as Defined by Clinical Evaluation
timeFrame: Data collection is ongoing, up to 20 years.
Secondary outcomes:
Other outcomes:
Locations:
city: Columbia
country: United States
facility: Foundation Fighting Blindness
state: Maryland
Study officials:
affiliation: Senior Vice President, Clinical and Outcomes Research
name: Todd Durham, PhD
role: PRINCIPAL_INVESTIGATOR
References: