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First patient receives treatment in Phase 3 Aspire trial of genetic therapy GTX-102

Subject treated with gene therapy in Phase 3 trial for Angelman syndrome treatment evaluation

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First Patient Receives Gene Therapy in Stage 3 Aspire Trial Using Drug GTX-102
First Patient Receives Gene Therapy in Stage 3 Aspire Trial Using Drug GTX-102

First patient receives treatment in Phase 3 Aspire trial of genetic therapy GTX-102

The pharmaceutical company Ultragenyx Pharmaceutical has initiated the Phase 3 Aspire study for its experimental gene therapy GTX-102 for Angelman syndrome. This development, according to Amanda Moore, chief executive officer at the Angelman Syndrome Foundation (ASF), and Ryan Fischer, chief operating officer at Foundation for Angelman Syndrome Therapeutics (FAST), is a significant achievement and something the community should celebrate.

The Aspire trial's main focus is on participants with a missing maternal UBE3A gene copy, the cause of Angelman syndrome. The trial is scheduled to be completed in 2027. Participants in the active treatment group will receive three monthly 8 mg doses of GTX-102 initially, followed by a maintenance period where the dosage will gradually increase up to a maximum of 14 mg administered every three months.

The main goal of the trial is to assess improvements in cognition using the Bayley-4 Cognition Raw Score. Secondary measures include the Multi-domain Responder Index to measure cognition, receptive communication, behaviour, motor function, and sleep. After 48 weeks, patients in the placebo group can switch to GTX-102 treatment.

Each individual inherits two copies of every gene, one from each biological parent. In neurons within the central nervous system, the UBE3A gene copy inherited from the father is usually inactive. GTX-102 is an antisense oligonucleotide designed to inhibit a molecule called UBE3A antisense transcript to prevent silencing of the paternal copy of the UBE3A gene. The treatment is given through direct injection into the spinal canal.

The global Aspire study (NCT06617429) is expected to enroll about 120 children and adolescents with Angelman syndrome, ages 4 to 17. Recruitment for the Aspire study is taking place at sites in the U.S., with several other sites planning to open in the U.S., Canada, Australia, Japan, and some European countries.

Positive results from the Aspire study could serve as the foundation for regulatory applications seeking GTX-102's approval. Ultragenyx Pharmaceutical plans to launch another trial, dubbed Aurora, later this year to assess GTX-102's efficacy in patients from other age groups and with different genotypes. The organization planning the Aurora clinical trial with Ultragenyx Pharmaceuticals to test GTX-102 in patients of various ages and genotypes is Genetron Holdings.

The Aspire trial is part of a larger effort by ASF and FAST to further awareness and treatment of Angelman syndrome. The community is encouraged to stay updated on the progress of the trial and to support ongoing research and development efforts.

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