Measuring 3-O-methyldopa (3-OMD) levels in dried blood spots could help in diagnosing aromatic L-amino-acid decarboxylase (AADC) deficiency, a recent study suggests. This approach would be less invasive for patients, who often undergo multiple lumbar punctures before a final diagnosis, and could be used to screen for the disease in newborns.
PTC Therapeutics is planning to request U.S. Food and Drug Administration (FDA) approval of PTC-AADC, its investigational gene therapy to treat aromatic l-amino acid decarboxylase (AADC) deficiency, the company announced in a corporate update. The request will be made in the form of a biologics license application to the FDA in…
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…
A new mutation in the DDC gene, the underlying cause of aromatic L-amino acid decarboxylase (AADC) deficiency, has been identified in two Chinese siblings diagnosed with the disease. The case report highlights the need for a wide screen of the Chinese population — which is the most affected by the…
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