First patient to receive potential therapy in Oxford

First patient has received a potential treatment in UK. GTX-102 trial update

Original post: Oxford University Department of Paediatrics

Things that seemed impossible, only a few years ago, are happening today. The first patient in Europe and one of the first in the world was injected with a potential treatment, GTX-102, in a phase I/II clinical trial in Oxford. GTX-102, an investigational antisense oligonucleotide being developed by GeneTx Biotherapeutics and Ultragenyx Pharmaceutical Inc., is delivered via intrathecal administration; it is designed to target and inhibit the expression of UBE3A-AS with the aim to unsilence the paternal UBE3A copy. The trial in Oxford is run by the STRONG research group of the Department of Paediatrics and the MDUK Oxford Neuromuscular Centre led by Professor Laurent Servais. Investigators, families, and the community are excited about the developments for Angelman syndrome in Oxford and look forward to seeing the results of the first of, hopefully, many more trials to come. This is the beginning of a new era for Angelman syndrome, where potential treatments targeting the root cause, the lack of functional UBE3A protein, are reaching the patients’ bedside.

The STRONG group with Prof Usha Kini of Genomic Medicine, are simultaneously running a Natural History Study for Angelman syndrome for the first time in the UK, which is generously supported by the Foundation for Angelman Syndrome Therapeutics UK – FAST UK. The Natural History Study will contribute to the validation of outcome measures with particular importance for patients and their families and will facilitate clinical trials recruitment. Validated outcome measures and biomarkers are important tools to quantify and prove efficacy in the processes of approval and compensation of new treatments.

We are really excited to have dosed the first study participant with a promising potential treatment. Antisense oligonucleotides, genetic therapies really are the future for many more devastating genetic disorders. We are only at the start of a new era in therapeutics!

The road before having a treatment for every child with Angelman syndrome in the UK and in the world is still very long, but this is an important first step. The model of a strong collaboration between medical doctors, advocacy groups, and pharmaceutical companies works. We need to continue working together with the same objective: helping these patients and these families!