Retinitis Pigmentosa clinical trials at UCSF
7 in progress, 4 open to eligible people
Retinitis pigmentosa is an inherited eye disease that causes vision loss. UCSF is examining how the disease progresses in people with the PRPF31 gene mutation. They are also testing a drug called N-acetylcysteine. In addition, UCSF is using advanced imaging to study the retina in people with this condition.
Oral N-acetylcysteine for Retinitis Pigmentosa
open to eligible people ages 18-65
Retinitis pigmentosa (RP) is an inherited retinal degeneration caused by one of several mistakes in the genetic code. Such mistakes are called mutations. The mutations cause degeneration of rod photoreceptors which are responsible for vision in dim illumination resulting in night blindness. After rod photoreceptors are eliminated, gradual degeneration of cone photoreceptors occurs resulting in gradual constriction of side vision that eventually causes tunnel vision. Oxidative stress contributes to cone degeneration. N-acetylcysteine (NAC) reduces oxidative stress and in animal models of RP it slowed cone degeneration. In a phase I clinical trial in patients with RP, NAC taken by month for 6 months caused some small improvements in two different vision tests suggesting that long-term administration of NAC might slow cone degeneration in RP. NAC Attack is a clinical trial being conducted at many institutions in the US, Canada, Mexico, and Europe designed to determine if taking NAC for several years provides benefit in patients with RP.
San Francisco, California and other locations
PRPF31 Mutation-Associated Retinal Dystrophy
open to eligible people ages 10 years and up
The purpose of this study is to characterize the natural history through temporal systemic evaluation of subjects identified with PRPF31 mutation-associated retinal dystrophy, also called retinitis pigmentosa type 11, or RP11. Assessments will be completed to measure and evaluate structural and functional visual changes including those impacting patient quality of life associated with this inherited retinal condition and observing how these changes evolve over time.
San Francisco, California and other locations
Retinal Imaging in Patients With Inherited Retinal Degenerations
open to eligible people ages 13 years and up
The purpose of this study is to determine whether the structure and function of the human retina can be studied with high resolution in patients with inherited retinal degenerations using the Adaptive Optics Scanning Laser Ophthalmoscope (AOSLO).
San Francisco, California
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 in EYS Related Retinal Degeneration
Sorry, in progress, not accepting new patients
The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with EYS mutations in order to accelerate the development of outcome measures for clinical trials.
San Francisco, California and other locations
Rate of Progression in USH2A-related Retinal Degeneration
Sorry, in progress, not accepting new patients
The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39). RUSH2A Extension Study: The purpose of this addendum is to extend RUSH2A to 7- and 9-year visits, with the goal to use longer term data to further develop and support early candidate endpoints as possible clinical trial outcomes.
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
Our lead scientists for Retinitis Pigmentosa research studies include Jacque Duncan, MD.
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