cevaretigene ritoparvovec (AAV2-RPE65) / Medical Research Council, MeiraGTx, University College London - LARVOL DELTA

Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65) (clinicaltrials.gov) - P1/2 | N=14 | Completed | Sponsor: MeiraGTx UK II Ltd | Active, not recruiting ➔ Completed | N=27 ➔ 14

Enrollment change • Gene therapy • Trial completion • Gene Therapies • Inherited Retinal Dystrophy • Ophthalmology • Retinal Disorders

Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65) (clinicaltrials.gov) - P1/2 | N=27 | Active, not recruiting | Sponsor: MeiraGTx UK II Ltd | Trial completion date: Apr 2023 ➔ Jul 2023 | Trial primary completion date: Apr 2023 ➔ Jul 2023

Gene therapy • Trial completion date • Trial primary completion date • Gene Therapies • Inherited Retinal Dystrophy • Ophthalmology • Retinal Disorders

Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65) (clinicaltrials.gov) - P1/2 | N=27 | Active, not recruiting | Sponsor: MeiraGTx UK II Ltd | Recruiting ➔ Active, not recruiting

Enrollment closed • Gene Therapies • Inherited Retinal Dystrophy • Ophthalmology • Retinal Disorders

A Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations: Testing a Proof-of-Concept After Gene Therapy. (PubMed, Clin Ophthalmol) - "A VR-O&M test will provide much needed flexibility, both in its deployment as well as in the possibility to test various attributes of vision that may be impacted by gene therapy in the setting of translational studies. This study provides proof-of-concept data in support for the use of a virtual reality orientation and mobility test to quantify the impact of the disease and of treatments thereof on functional vision in inherited retinal degenerations."

Journal • Gene Therapies • Inherited Retinal Dystrophy • Pediatrics

RPE65 Gene Therapy （LX101）for Leber's Congenital Amaurosis (clinicaltrials.gov) - P=N/A; N=9; Not yet recruiting; Sponsor: Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine

Clinical • New trial • Gene Therapies • Inherited Retinal Dystrophy • Retinal Disorders

Voretigene Neparvovec in Retinal Diseases: A Review of the Current Clinical Evidence. (PubMed, Clin Ophthalmol) - "Multi-luminance mobility testing was used to measure the primary efficacy endpoint due to its excellent reliability in detecting the progression of inherited retinal diseases. After the study met its primary endpoint, the Food and Drug Administration approved voretigene neparvovec (Luxturna) for use in RPE65-associated inherited retinal diseases."

Clinical • Journal • Review • Gene Therapies • Genetic Disorders • Inherited Retinal Dystrophy • Ocular Inflammation • Ophthalmology • Retinal Disorders • Retinitis Pigmentosa

Results at 5 Years after Gene Therapy for RPE65-deficient Retinal Dystrophy. (PubMed, Hum Gene Ther) - "There were no clinically significant adverse events. Visual acuity and static perimetry testing results suggest that treating patients at a younger age is associated with better visual function outcomes during 5 years after treatment."

Journal • Gene Therapies • Ophthalmology • Pediatrics

Deletion of M-opsin prevents "M cone" degeneration in a mouse model of Leber congenital amaurosis. (PubMed, Am J Pathol) - "Despite the success of recent RPE65 gene therapy, follow-up studies show that patients continue to experience photoreceptor degeneration and lose vision benefit over time...This finding may represent a general mechanism for "M cone" degeneration in multiple forms of cone degeneration due to M-opsin mislocalization and degradation. These results have important implications for the current gene therapy strategy for LCA that emphasizes the need for combinatorial therapies to both improve vision and slow photoreceptor degeneration."

Journal • Preclinical • Gene Therapies • Ophthalmology

Improved ocular gene transfer with a Neddylation-site modified AAV-RPE65 vector in rd12 mice. (PubMed, Eye (Lond)) - No abstract available

Journal • Preclinical

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis. (PubMed, Mol Vis) - "Three of 50 patients were medically or surgically actionable: one patient for RPE65 gene therapy and two patients with WDR19 Senior-Løken syndrome for early preparation for kidney and liver transplantations. This study demonstrated that approximately 4% of patients may have dual molecular diagnoses, and 6% were surgically or medically actionable in LCA. Therefore, accurate molecular diagnosis and careful interpretation of next-generation sequencing results can be of great help in patients with LCA."

Clinical • Journal