Active clinical trials for "Leber Congenital Amaurosis"

A clinical trial of AAV2/5 vector for patients with Defects in RPE65

The purpose of the study is to assess the safety and efficacy of the active substance rAAV-2/4.hRPE65 in patients with Leber Congenital Amaurosis or Congenital severe early-onset retinal degeneration associated with RPE65 mutation.

Early Phase I Study of the Safety and Preliminary Efficacy of Human primary Retinal Pigment Epithelial (HuRPE) Cells Subretinal Transplantation in Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA) Patients

This study is a longer-term follow-up study for patients who have been administered AAV2/5-OPTIRPE65 in the Phase I/II, open label, non-randomised, two-centre, dose escalation trial in adults and children with retinal dystrophy associated with defects in RPE65.

MGT005 is a natural history study to collect longitudinal prospective data from patients with Leber Congenital Amaurosis associated with defects in RPE65.

A prospective natural history study with systematic assessments and uniform follow-up to provide a high-quality dataset for assisting in the design of future clinical treatment trials involving patients with CEP290-related retinal degeneration caused by the common intron 26 mutation.

The main objectives of this study are: Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA taking into account ethnicity of families. Confirm, refine or modify the genotype-phenotype correlations. Edit important recommendations for: The clinical and paraclinical exploration of a new patient based on genotype, especially for extraocular explorations, to book at certain genetic subtypes Prenatal care of a couple. Directing families to a therapeutic protocol in progress or in development. Individualize a panel of families without a mutation in the known genes and identify new genes responsible.

To evaluate the natural history of visual function in subjects with IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.

Rationale: In preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 gene. Such a study will help identify suitable patients for therapeutic intervention. Methodology: This is a multicenter retrospective, descriptive chart review study designed to assess retinal structure and function in subjects with IRDs due to mutation in RPE65 gene by visual acuity, visual field measurements, Optical Coherence Tomography (OCT), and a number of other vision-related assessments.