Anticipated revelations of the KIK-AS Angelman syndrome gene therapy study within the first six months of the year
In a significant development for the treatment of Angelman syndrome, interim data from the KIK-AS trial has suggested that the experimental genetic therapy GTX-102, developed by Ultragenyx Pharmaceutical, may be providing patients with a clinical benefit over what would be expected in untreated cases.
The KIK-AS trial, a Phase 1/2 study, is testing multiple doses of GTX-102, administered via intrathecal injection. The trial was suspended in 2020 due to leg weakness in some patients given high doses, but was cleared to restart a year later with changes to the trial's protocol. The changes included narrowing the dose range and requiring intrathecal injection.
The findings from the KIK-AS trial will inform the design of a future Phase 3 trial for GTX-102. Phase 3 trials are designed to test a therapy's efficacy and, if positive results are obtained, can typically support applications to approve new therapies.
GTX-102 contains an antisense oligonucleotide that inhibits the UBE3A antisense transcript (UBE3A-AS), allowing the paternal copy of UBE3A to be active in cells. This is particularly significant as everyone inherits two copies of the UBE3A gene, but usually only the maternal copy is active in Angelman syndrome. The syndrome is caused by a mutation in the maternal copy of the gene UBE3A.
The clinical trial for GTX-102, named KIK-AS, has completed patient enrollment. The European Medicines Agency (EMA) has designated GTX-102 as a Priority Medicine (PRIME), which aims to support developers of promising medicines that show significant therapeutic advantages over existing treatments or provide benefits to patients with limited treatment options.
The results of the KIK-AS trial are expected to be available in the first half of 2024. Dr. Crombez, who has been involved in the development of the therapy, expressed appreciation for the support of the Angelman community in developing a new treatment option for Angelman syndrome.
Positive results from the Phase 3 trial could pave the way for a new treatment option for individuals with Angelman syndrome, a rare genetic disorder characterised by severe intellectual and developmental delay, lack of speech, and frequent seizures.
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