TAIPEI, TAIWAN, Aug.31, 2022 - We have introduced how genetics and gene therapies can help physicians find new treatments for rare diseases - Aromatic L-amino Acid Decarboxylase Deficiency (AADC). An exciting announcement was made by National Taiwan University Hospital (NTUH) Department of Medical Genetics professor Hwu Wuh-liang and his team that one gene therapy has been approved for sale in the European Union for the treatment of AADC deficiency in July.
This is the first treatment to be approved for AADC deficiency anywhere in the world. There were 135 cases reported worldwide with 30% being in Taiwan. However, this rare genetic mutation is known to affect 1 in 118,000 people in the EU, 1 in 90,000 in the USA, 1 in 182,000 in Japan and 1 in 30,000 in Taiwan. While symptoms of this rare disease vary, patients who suffer severe symptoms usually have low muscle tone, decreased physical movement abilities, trouble sleeping, and even trouble with language communication, which can lead to damaging effects on the brain’s cognition.
Although AADC has not received much attention globally, NTUH has been working the treatment out since 2007 and started clinical trials with 30 AADC patients in 2010. The treatment, called Upstaza, is a one-time treatment. It uses viral vectors that carry a functional AADC gene into an area of the brain known as the basal ganglia, where it triggers a response to produce the enzymes necessary for the body to function normally.
During the clinical trials, the AADC symptoms have greatly improved. The patients are able to sit or walk in their daily lives. Although the treatment does not fully restore children’s health, it can significantly alleviate illnesses. This result brings new hope to the families.
We are looking forward to having Upstaza officially available in Taiwan. With the convenience of genomic discoveries, we hope more pharmaceutical companies can invest in rare disease development. and bringing the consistently good news about rare diseases.
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