A recent news release on BioSpace shares how GTX-102, an investigational antisense oligonucleotide drug therapy for Angelman syndrome, was granted Fast Track designation from the FDA. The therapy, created by GeneTx Biotherapeutics and Ultragenyx Pharmaceutical Inc., seeks to fit an unmet need for this rare disease population.
Angelman Syndrome
Angelman syndrome is a rare neuro-genetic disorder that impacts the nervous system. It is caused by a defective or missing maternal UBE3A gene. Although people with Angelman syndrome tend to have a normal lifespan, many develop neurological and developmental problems, as well as seizures. The condition is frequently misdiagnosed as autism or cerebral palsy.
Symptoms of Angelman syndrome include sleep disorders, stiff movements, feeding difficulties or obesity, hand flapping and tongue thrusting, and lack of speech. Additionally, some research shows that anxiety is also a large problem for those with AS. However, many people with Angelman syndrome are upbeat, exited, and very social. Although symptoms can be managed with medication, there are no approved treatments specifically for AS. Learn more about Angelman syndrome here.
GTX-102
GTX-102 is considered an investigational antisense oligonucleotide drug therapy. But what exactly does that mean?
Antisense oligonucleotides (ASOs) are described by the National Cancer Institute as:
small pieces of DNA or RNA that can bind to specific molecules of RNA. This blocks the ability of the RNA to make a protein or work in other ways.
Basically, ASOs can alter RNA, stop the production of certain proteins, or inactivate a defective gene. This makes ASOs incredibly helpful for customized medical treatments, as they can target certain genetic issues.
In this case, GTX-102 works to impede the mutated UBE3A gene. It also helps to express the paternal UBE3A gene. Generally, the maternal gene is the defective one, but also the one expressed. Activating the paternal gene reduces neurological symptoms.
Prior to Fast Track Designation, GTX-102 received the Rare Pediatric Disease Designation and Orphan Drug Designation.
Fast Track Designation
Fast Track Designation is granted by the FDA. The organization describes it as:
a process designed to facilitate the development, and expedite the review of drugs to treat serious conditions and fill an unmet medical need.
Any drug therapies granted Fast Track designation must show benefits that current drug therapies do not offer. These include less serious side effects, better patient outcomes, meeting an unmet or emerging need, and reducing drug toxicity.
If a drug receives Fast Track designation, the drug developers also receive benefits. These include more frequent FDA meetings (both in-person and via written communication), as well as eligibility for Accelerated Approval and Priority Review under certain circumstances.
Efficacy and Safety for Angelman Syndrome Treatment
Currently, GTX-102 is being tested in the Phase 1/2 KIK-AS study. This study will follow 20 patients with Angelman syndrome to test the therapy’s safety, efficacy, and tolerability.
