Retinitis Pigmentosa Clinical Trials

This is a non-randomized, phase I, escalating single dose study to assess the safety of the gene transfer vector scAAV9/JeT-GAN through intrathecal delivery to the brain and spinal cord of patients with Giant Axonal Neuropathy (GAN, OMIM No.256850). The primary objective of this study is to assess the safety of ...

Non-randomized, open label, Phase 1/2 dose escalation study of BS01, a non-replicating, rep/cap-deleted, recombinant adeno-associated virus vector expressing an enhanced light-sensitive channelrhodopsin gene (ChronosFP).

Diseases affecting the motor unit--which is composed of the motor neuron, its myelin sheath and its innervated muscle fibers--are a diverse, heterogeneous group having heterogeneous clinical presentations and genetic causes. Many of these disorders have a inherited component. In some cases, the genetics underlying a given neuromuscular/motor neuron disease, like ...

The Neurogenetics Branch (NGB) within the National Institute of Neurological Disorders and Stroke (NINDS) is conducting a study to evaluate patients with hereditary spastic paraplegia types 3A, 4 and 31. The objective of this study is to understand disease progression in these closely related forms of hereditary spastic paraplegia using ...

This study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells, which will be used to determine molecular mechanisms for potentially blinding eye diseases including but not limited to: Best Vitelliform Dystrophy (Best Disease); Late-Onset Retinal Degeneration (L-ORD); Age-Related Macular Degeneration (AMD); Leber congenital amaurosis (LCA); ...

QR-1123 is an antisense oligonucleotide, designed to specifically target the mutant P23H messenger ribonucleic acid (mRNA) in order to reduce the expression of the P23H protein selectively, while preserving expression of the wild type (WT) rhodopsin (RHO) protein. It is hypothesized that the reduction of mutant P23H mRNA will reduce ...

The investigators will use a multi-site, two-armed randomized controlled trial of older drivers (n=300; 70 years) from clinical settings, and one family member each (n=up to 300), with longitudinal follow-up. Study goals are to test how much the DDA improves outcomes and identify who benefits most from the DDA. Evaluation ...

Objective: The objective of this protocol is to investigate local changes in rod and cone photoreceptor function across the retina in healthy volunteers and participants with retinal disease. Study Population: Up to 120 healthy volunteers and 250 participants, age five or older, with retinal disease. Design: This single-center, observational, case-control ...

Objective: The objective of this study is to investigate the nature of photoreceptor dysfunction in retinitis pigmentosa (RP) patients using focal static and kinetic psychophysical tests to develop functional outcome measures for the clinical trial study in RP. Correlation of novel spatial functional maps with other functional measures (such as ...

Charcot-Marie-Tooth (CMT) diseases are the most common inherited motor and sensory neuropathies, composed of a group of pathologically and genetically distinct subtypes ranging from slowly to rapidly progressive disease. CMT4J is a rare subtype of CMT caused by mutations in the FIG4 gene. Pediatric-onset disease can often be characterized by ...