The FDA has recently granted GTX-102, a treatment for Angelman syndrome, the Fast Track designation. This designation means that the review process is expedited. It is meant specifically for drugs that treat severe conditions with unmet needs. Communication with the FDA is open for the majority of the development process, making it easier for New Drug Applications and Priority Review. This designation comes after GTX-102 was already granted the Orphan Drug designation and Rare Pediatric Disease designation.

About Angelman Syndrome

Angelman syndrome (AS) is a neuro-genetic disorder. Due to its rarity, it is often misdiagnosed as cerebral palsy or autism. It is characterized by seizures, developmental disabilities, and neurological problems. It occurs when a gene on chromosome 15 is either defective or missing. The reason for this change in chromosome 15 is unknown, as there does not seem to be a hereditary component.

The first signs of AS present in early childhood, as children do not crawl or talk at the normal age. Seizures will come later in childhood. Children with this syndrome are often very happy and like to laugh and smile. Other symptoms of this condition include minimal or no speech, small head size, difficulty with walking and moving, tongue thrusting, hand flapping and uplifted arms when walking, stiff and jerky movements, sleep disorders, and feeding difficulties.

After a doctor notices the characteristic symptoms of AS, they will order genetic tests to confirm a diagnosis. These tests may be a DNA methylation test, gene sequencing tests, and fluorescence in situ hybridization (FISH) tests. After a diagnosis is confirmed, treatment is meant to manage the symptoms of the syndrome. Common treatments include anti-seizure medications and behavioral, physical, and communication therapy.

About GTX-102

GTX-102 is an antisense oligonucleotide. It directly targets and inhibits UBE3A-AS, effectively reducing its levels. Neurons of the CNS then benefit from the lower levels and increased activity of the UBE3A allele from the father’s genes. This leads to alleviation of the neurological symptoms.

This drug is being investigated in the Phase 1/2 KIK-AS trial, an open-label, ongoing, dose-escalating, multiple-dose study. 20 participants will be enrolled in an effort to evaluate the safety, efficacy, and tolerability of GTX-102. Results will most likely be made available in the first half of 2021.

If this study is successful, it will provide a viable treatment for the neurological symptoms of Angelman syndrome. This will greatly benefit children with the disorder, as there is currently an unmet need for treatments.

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