According to a story from BioSpace, GeneTx Biotherapeutics LLC and Ultragenyx Pharmaceutical, Inc. have recently announced that the first patient has been dosed in the companies’ phase 1/2 clinical trial. This clinical trial is testing an experimental treatment called GTX-102 as a treatment for Angelman syndrome. Ultragenyx is focused on developing therapies for severe rare diseases. GTX-102 is classified as an antisense oligonucleotide, and this is the first study that will test this type of drug as a treatment for Angelman syndrome.
About Angelman Syndrome
Angelman syndrome is a type of genetic disorder that impacts the nervous system. This disorder is not inherited from parents, but instead occurs as a spontaneous genetic alteration, typically the deletion of a segment from chromosome 15 called UBE3A. A mutation of this gene can also caused Angelman syndrome. Symptoms of this disorder can include seizures, developmental delays, a small head, an excited and happy demeanor, trouble with balance and movement, intellectual disability, and speech issues. Patients may share certain facial characteristics. Symptoms become noticeable at about one year old. Treatment is supportive and symptomatic, and there is currently no cure. Patients have a strong desire for social interaction, and despite limited language are able to understand much of what is happening around them. Life expectancy is generally close to that of an unaffected person. To learn more about Angelman syndrome, click here.
The study will include a total of 20 patients. GTX-102 is designed with a mechanism of action that has the potential to interfere with the underlying cause of Angelman syndrome, meaning it has significant potential to improve the lives of patients. The experimental therapy inhibits the expression of UBE3A-AS. This inhibition should allow for the reactivation of UBE3A. This mechanism, when evaluated using animal models of the disorder, triggered meaningful improvements in some of the neurological challenges that these patients face.
At this time, there are no currently approved treatments or cures specifically for Angelman syndrome. Instead, treatment primarily focuses on mitigating symptoms as best as possible. However, a successful outcome in this trial could mean a major step forward in getting a disease-modifying treatment for this group of patients.