GeneTx Biotherapeutics is set to start the KIK-AS clinical trial for evaluating GTX-102 for the treatment of Angelman syndrome (AS), a rare, neurogenetic disorder resulting from the loss-of-function of the maternally inherited allele of the UBE3A gene.

In this connection, the biotech startup has secured institutional review board (IRB) approval from Rush University Medical Center in Chicago, which will be the first center to enroll patients for the KIK-AS clinical study. More clinical sites are planned for Boston, Cincinnati, Los Angeles, Denver, New York, and Ottawa, Canada, said GeneTx Biotherapeutics.

The KIK-AS trial, which expands to Knockdown of UBE3A-antisense in Kids with Angelman Syndrome, is a phase 1/2 clinical study.

Scott Stromatt – Chief Medical Officer of GeneTx Biotherapeutics said: “A tremendous amount of basic research over decades, and intense research and development over the last couple of years has now brought us to the cusp of testing a novel drug in individuals with Angelman syndrome.

“This is truly an exciting time for patients, families, and medicine.”

The goal of the phase 1/2 open-label, multiple-dose, dose-escalating trial is to assess the safety, tolerability, and plasma and cerebrospinal fluid (CSF) concentrations of GTX-102 in pediatric patients having Angelman syndrome.

Nearly 20 patients of both the sexes aged ≥ 4 and ≤ 17 years of age with a genetically confirmed diagnosis of full maternal UBE3A gene deletion will be enrolled in the KIK-AS clinical trial.

GeneTx Biotherapeutics had partnered with Ultragenyx Pharmaceutical to develop GTX-102, which is an investigational antisense oligonucleotide designed to target and block expression of UBE3A-AS. According to GeneTx Biotherapeutics, nonclinical studies had shown that GTX-102 brought down the levels of UBE3A-AS and reactivated expression of the paternal UBE3A allele in neurons of the central nervous system.

Camille L. Bedrosian – Chief Medical Officer of Ultragenyx Pharmaceutical said: “The GeneTx team continues to make significant progress in advancing the GTX-102 program for patients with Angelman Syndrome, and we look forward to continuing our work with the team to move this program into the clinic.”

  Angelman syndrome, Camille L. Bedrosian, Chicago, GeneTx Biotherapeutics, GTX-102, KIK-AS clinical trial, Rush University Medical Center, Scott Stromatt, Ultragenyx Pharmaceutical