26 Feb Gene Therapy Reversed Blindness in 11 Children with Congenital Disease
MedicalResearch.com Interview with:
Prof. Michaelides
Professor Michel Michaelides BSc MB BS MD(Res) FRCOphth FACS
Professor of Ophthalmology and Consultant Ophthalmic Surgeon
UCL Institute of Ophthalmology and Moorfields Eye Hospital
MedicalResearch.com: What is the background for this study?
- Leber congenital amaurosis (LCA) is a rare inherited retinal disease (IRD) that causes the degeneration of the cone and rod cells in the retina. It is characterized by severe vision loss at birth/early infancy and is one of the commonest causes of legal blindness in childhood. There is a wide range of severity at birth/early infancy, ranging from light perception to useful central vision; with variable rate of progression over time, LCA is estimated to occur in about 1 in 33,000 people. There are more than 30 genes that cause LCA.
- LCA associated with genetic deficiency of AIPL1 is one of the most severe forms of LCA – resulting in profound visual loss from birth (often light perception only) and rapidly progressive retinal degeneration.
- The study sought to evaluate whether early intervention by gene supplementation therapy in children with LCA associated with AIPL1 was safe and could improve outcomes.
MedicalResearch.com: What are the main findings?
Response: In the Lancet publication from the first 4 children treated in one eye indicate that young children with AIPL1-related retinal dystrophy benefited substantially from subretinal administration of AAV-AIPL1, with improved visual acuity and functional vision and evidence of some protection against progressive retinal degeneration, without serious adverse effects.
After it was clear the study showed efficacy and no significant safety issues, a further 7 patients were subsequently treated bilaterally bringing the total number of patients treated to date to 11. Meaningful responses have been observed in 11 out of 11 LCA4 children treated to date with AAV-AIPL1. All children were treated between 1 and 4 years old, all were legally blind before treatment, and all gained visual acuity 4 or more weeks following treatment.
MedicalResearch.com: How often might treatment need to be repeated? What are the associated costs and potential side effects
- The treatment is delivered via subretinal injection to children, and through a one-time administration. Side effects were minimal and anticipated, the children were prescribed oral prednisolone to protect against harm from inflammation.
- The trial was conducted under a Specials license from the MHRA. Financial help to provide the treatment was provided by Moorfields Eye Charity. MeiraGTx supported production, storage, quality assurance and released and supplied the drug product for treatment under their Manufacturer’s ‘Specials’ License at no cost. Specials License in the UK allows the manufacturing license holder to provide drug to physicians for use outside of company sponsored trials when the latter are not feasible.
MedicalResearch.com: What recommendations do you have for future research as a results of this study?
Response: Following recent meetings with the MHRA, MeiraGTx intends to submit a Marketing Authorization Application (MAA) under exceptional circumstances for AAV-AIPL1 based on the results from the 11 treated children with no further clinical data required, and the Company has aligned on an expedited CMC package to support approval. The Company is also currently engaging with the Food and Drug Administration (FDA) to discuss a path forward for expedited approval in the United States.
The 11 patients treated continue to be monitored via regular visits to their vision specialists.
Links of BBC Interviews with myself and 2 Families:
Prof. M
https://vimeo.com/1059075932/d74a726c5e?ts=0&share=copy
Shillings:
https://vimeo.com/1059730462/3551858a08?ts=0&share=copy
Jenkins
https://vimeo.com/1059728455/40fcf4f6c8?ts=0&share=copy
Citation:
Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study
Michaelides, Michel et al. The Lancet, Volume 405, Issue 10479, 648 – 657
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Last Updated on February 26, 2025 by Marie Benz MD FAAD