First Gene Therapy Administered in The Brain May Come Soon for AADC Deficiency Patients

PTC Therapeutics Inc. has just announced that their gene therapy called Upstaza has received a positive opinion from the EMA. After the therapy is ratified by the European Commission (EC), it will be the first treatment that is disease-modifying approved for aromatic L-amino acid decarboxylase (AADC) deficiency. It is the very first gene therapy which works via direct infusion to the brain.

PTC is expecting approval in 2 months. After this approval, all 27 EU states will have access to the treatment.

Aromatic L-amino acid decarboxylase (AADC) deficiency

AADC deficiency is a rare and fatal genetic neurological condition which impacts every aspect of life. The condition leads to severe disability, behavioral issues, seizure-like crises, difficulty sleeping, respiratory infections, vomiting, gastrointestinal issues, and much more.

There has yet to be any disease-modifying therapy for this condition. Instead, patients have to rely on treatments that mitigate symptoms. Additionally, speech therapy, physical therapy, and occupational therapy may be used. Patients may also necessitate surgery for some complications.

The new Upstaza gene therapy could be life-changing.


Upstaza is a AAV2-based gene therapy which delivers a healthy DDC gene into the putamen. As a result, it increases the AADC enzyme and restores production of dopamine.

This therapy has been studied for a quite a long time. The very first patient was dosed with the therapy ten years ago. It has proven both its safety and efficacy for bringing neurological improvements to patients. Further, these improvements have been sustained for nine years following administration.

This therapy is administered through a minimally invasive surgical procedure which has been used for a number of conditions. The treatment is meant for patients over 18 months of age. Common side effects include dyskinesia, insomnia, and irritability.

The new positive opinion in the EU is based on studies which took place in Taiwan and compassionate use data from Europe. Upstaza has been found to lead to clinically meaningful improvements in motor skills as well as neuromuscular function. These improvements are seen as quickly as three months after the treatment is administered. Additionally impressive is that communication skills and cognitive skills have been found to improve in every single patient who has been treated.

You can read more about this novel gene therapy here.

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