Improving Diagnosis in Rare Diseases: Paul Wuh-Liang Hwu, MD, PhD

"Similar to muscle biopsy for Pompe's disease, the standard diagnosis for AADC deficiency is lumbar puncture, a specific type of lumbar puncture that only 1 or 2 labs in in each state. So, it's a huge obstacle in the diagnosis of this disease. There are certainly many patients with AADC deficiency that are not diagnosed."

While international Rare Disease Day has come and gone, improving awareness of these diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency, Pompe disease, and spinal muscular atrophy, remains an ongoing issue.

Advances continue to be made in these diseases, especially with cell and gene therapies. One such gene therapy under investigation in AADC deficiency is PTC Therapeutics’ PTC-AADC. The therapy is being evaluated in trials at National Taiwan University Hospital, where Paul Wuh-Liang Hwu, MD, PhD, professor of pediatrics, serves as an investigator.

CGTLive spoke with Hwu to learn more about unmet needs that remain in AADC deficiency and Pompe disease. He discussed issues in diagnosing these diseases, how diagnoses could be improved, and a diagnostic assay the hospital has developed in facilitating diagnosis of AADC deficiency.