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Retinal Degeneration clinical trials at UCSF

2 in progress, 1 open to eligible people

Retinal degeneration is the gradual loss of retinal function. UCSF is part of an international study focusing on rare genetic variants linked to retinal dystrophies. This study aims to gather detailed information about these rare conditions.

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  • Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants

    open to eligible people ages 4 years and up

    This is an international, multicenter study with two components: Registry - A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection - Enrollment is open to all genes on the RD Rare Gene List Natural History Study - A prospective, standardized, longitudinal Natural History Study - Enrollment opens gene-by-gene, based on funding and within-gene Registry enrollment The study objectives are as follows. Registry Objectives 1. Genotype Characterization 2. Cross-Sectional Phenotype Characterization (within gene) 3. Establish a Link to My Retina Tracker Registry (MRTR) 4. Ancillary Exploratory Studies - Pooling of Genes Natural History Study Objectives 1. Natural History (within gene) 2. Structure-Function Relationship (within gene) 3. Risk Factors for Progression (within gene) 4. Ancillary Exploratory Studies - Pooling of Genes

    San Francisco, California and other locations

  • Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F

    Sorry, in progress, not accepting new patients

    The overall goal of this project, co-funded by the Foundation Fighting Blindness and the USHER 1F Collaborative is to characterize the natural history of disease progression in patients with PCDH15 mutations in order to accelerate the development of outcome measures for clinical trials.

    San Francisco, California and other locations

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