First patient treated in clinical study for gene therapy for Usher syndrome type 1B

On September 16, 2024, AAVantgarde Bio, a biotechnology company from Italy, announced that the first patient has been treated in a clinical study investigating the safety and efficacy of a new gene therapy for patients with retinitis pigmentosa as a result of Usher Syndrome type 1B (USH1B). 

This clinical study, named LUCE-1, has been set up to examine how safe and effective the new gene therapy AAVB-081 is in individuals with Usher syndrome type 1B. In this condition, patients lose their hearing and sight due to a hereditary mutation in the MYO7A gene. The study is in phase 1/2, meaning it is still in an early stage and primarily focused on testing safety.

 How does the gene therapy work?
The new treatment, AAVB-081, utilizes a specialized technique designed to deliver larger genes like MYO7A into the eye. This is done by packaging two halves of the gene into viral carriers, known as AAV vectors, which together complete the MYO7A gene inside the cell. The idea is that this therapy restores the production of the Myo7A protein, which may help stabilize the patient’s vision.

Previously successful results achieved
The technology behind this gene therapy was developed by Professor Alberto Auricchio at the TIGEM institute in Naples. As the first-in-human study with this therapy has only just commenced, no data on the results are as yet available. However, scientists have previously studied the therapy in small and large animal models and demonstrated up to 40% improvement in the gene function. As animal eyes have many differences compared to human eyes, comment on the success of the therapy in humans will only be available after the clinical trials. .

First patient
The first patient in the LUCE-1 study has been treated at the University Hospital of Campania in Naples, under the guidance of Professor Francesca Simonelli, an expert in ophthalmology and gene therapy. In the coming period, more patients will be treated, and the results will be evaluated.

This study offers hope for individuals with Usher syndrome type 1B, a group of patients for whom there are currently no treatments available to preserve their vision. The success of this therapy would be a significant step forward in the fight against this progressive disease.

More information

AAVantgarde Bio continues to work closely with researchers to further develop this promising therapy and hopes to assist more patients soon. Stichting Ushersyndroom is regularly updated by AAVantgarde, and we share this valuable information with our supporters through our website, newsletter, and social media. The full results of the study will be announced once the study is completed and the data analysed, although this will take several years.

For further information about the LUCE-1 study:
https://clinicaltrials.gov/study/NCT06591793?term=aavantgarde&rank=2

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Hope for Usher patients