Foundation Fighting Blindness Registry FFB-Registry-01

The Foundation Fighting Blindness (FFB) was established in 1971 to raise funds for research to identify the causes of and preventions, treatments, and cures for inherited retinal degenerative diseases (IRDDs). For over 40 years, the FFB has been the primary patient advocacy organization for IRDDs and it has grown to be the second largest funder of IRDD research after the National Eye Institute. FFB supports research for a group of inherited ocular diseases that result in a progressive retinal degeneration and, in some cases of syndromic disease, other systemic disease processes. Each individual disease in the group falls under the rare disease classification definition. Patient populations for each disease range from over 50,000 to fewer than 100. Inherited retinal degenerative diseases include retinitis pigmentosa, Usher syndrome, Stargardt disease, Best disease, Bardet-Biedl syndrome, choroideremia, cone dystrophy, cone-rod dystrophy, cone monochromacy, congenital stationary night blindness, fundus albipunctus, Goldman-Favre vitreoretinal dystrophy, Leber congenital amaurosis, Refsum syndrome, retinoschisis, rod-cone dystrophy, rod dystrophy, rod monochromacy, and Sorsby pseudoinflammatory dystrophy. Collectively IRDDs affect more than 150,000 people in the US. To date, mutations in more than 250 genes have been linked to IRDDs. As researchers continue to search for new pathogenic genes and mutations, identifying and accessing a sufficient number of samples from participants with rare phenotypes/genotypes becomes increasingly challenging. Research has led to the development of new therapies, many of which are gene specific, making identification of suitable participants for clinical trials a growing challenge. In the mid 1980s, FFB initiated a registry which has grown to over 10,000 individuals who have given their consent to be contacted regarding announcements of clinical trials and other research studies. However, this registry only contains basic demographic and diagnostic information. Without a searchable database of standardized phenotype and genotype data, the current registry has limited utility. This protocol describes a registry that provides a secure information portal for participants, clinicians and researchers to facilitate rapid collection, integration and access (by qualified and approved members of the clinical and research community) to participant and physician entered data on phenotype and genotype that are necessary to accelerate research and development of diagnostics and treatments for IRDDs while maintaining confidentiality of the patient’s identity.