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PTC Therapeutics Submits BLA for AADC Deficiency Gene Therapy to FDA

NEW YORK – PTC Therapeutics has submitted a biologics license application (BLA) to the US Food and Drug Administration for Upstaza (eladocagene exuparvovec), a gene therapy for aromatic L-amino acid decarboxylase (AADC) deficiency, a rare, genetic neurodevelopmental disorder, the firm said Tuesday.

Upstaza, which has already received marketing authorizations in Europe, Great Britain, and Israel, is designed as a one-time gene replacement therapy for those with a genetically confirmed diagnosis of AADC deficiency with a severe phenotype, which can include severe disability. 

The gene therapy uses a recombinant adeno-associated virus serotype 2 vector to deliver a functional copy of the DDC gene, which encodes the AADC enzyme. A deficiency in this enzyme leads to lower levels of dopamine and serotonin. The gene therapy is administered through a minimally invasive stereotactic surgical procedure performed by a neurosurgeon.

In its BLA, South Plainfield, New Jersey-based PTC submitted data from clinical trials in which Upstaza led to neurological improvements in patients, according to the firm. The most common side effects in studies of the treatment were initial insomnia, irritability, and dyskinesia.

"We are excited to bring Upstaza one step closer to children in the US with the highly mortal and fatal disease of AADC deficiency," PTC CEO Matthew Klein said in a statement. 

PTC also plans to resubmit a new drug application to the FDA midyear, after factoring in the agency's feedback, for Translarna (ataluren). The firm is seeking Translarna's approval from the FDA as a treatment for patients with Duchenne muscular dystrophy due to nonsense mutations. The protein restoration therapy is designed to enable cells to produce functional dystrophin, the protein lacking or deficient in patients with Duchenne muscular dystrophy.

PTC last year laid off 25 percent of its workforce as part of a strategic reorganization, under which it is discontinuing preclinical and early research in multiple gene therapy programs, including for Friedreich ataxia and Angelman syndrome.