As part of this expert roundtable, Paul Wuh-Liang Hwu, MD, PhD of the Taipei National University Hospital, described current approaches to treatment of aromatic L-amino acid decarboxylase (AADC) deficiency.
Dr. Hwu said that for typical infant cases, it is very difficult to treat their symptoms. It is possible to use dopamine-based medications to help manage some patients, “but for the more severe cases,” Dr. Hwu noted, “we saw more complications from the medication” and less benefit. More recently, he has utilized a rotigotine transdermal patch (used to treatment Parkinson’s disease), which he finds easier to use than oral dopamine agonists.
Patients don’t often show signs of AADC deficiency until they are older than 3 months. Once those signs of abnormal movement do appear, feeding can become more difficult. He generally tries the rotigotine patch, along with vitamin B6, and focuses on improving the feeding of those babies and on their weight. Once they reach about 18 months of age, they can consider the newest modality—gene therapy (Note: gene therapy is still under clinical investigation and is not yet approved by the US Food and Drug Administration for the treatment of AADC deficiency).
Dr. Hwu described gene therapy as “not really a cure, but actually a way of improving symptoms.” Once dopamine levels are restored, then patients have an extended period of rehabilitation, where they slowly recover their ability to control abnormal movement and improve their dystonia. The roundtable participants included:
Philip L. Pearl, MD
Director, Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital
William G. Lennox Chair and Professor of Neurology, Harvard Medical School
Warren A. Marks, MD
Medical Director, Movement Disorders
Cook Children’s Jane and John Justin Neurosciences Center
Fort Worth, TX
Paul Wuh-Liang Hwu, MD, PhD
Professor, Department of Pediatrics and Medical Genetics
National Taiwan University Hospital
Irina A. Anselm, MD
Director of the Mitochondrial Program and Co-Director of the Neurometabolic Program, Boston Children’s Hospital
Assistant Professor of Neurology, Harvard Medical School
Jennifer O’Malley, MD, PhD
Clinical Assistant Professor, Neurology & Neurological Sciences, Stanford Medicine
Pediatric Neurologist, Stanford Children’s Health