Kylie O’Keefe, Senior Vice President, Head of Global Commercial and Corporate Strategy at PTC Therapeutics, discusses the results of a recent study on the impact of caring for an individual with aromatic L-amino acid decarboxylase (AADC) deficiency.

AADC deficiency is a rare, genetic disorder due to a defect in the dopa decarboxylase (DDC) gene that reduces the synthesis of dopamine, norepinephrine, epinephrine, and melatonin.

As Ms. O’Keefe explains, the results of a study exploring the health-related quality of life (HRQoL) in AADC deficiency patients and their caregivers were recently presented in a poster at the virtual ISPOR 2021 conference. This is the first qualitative study reporting on the experience of AADC patients and their caregivers. The data provides insight into the symptoms, impact, and challenges of AADC deficiency. One of the most notable findings is that caregivers reported spending almost every waking moment caring for the individual with AADC deficiency, requiring most of them to stop working or reduce their working hours. According to Ms. O’Keefe, this highlights the importance of, and need for, effective treatments. 

For more information about AADC deficiency, visit checkrare.com/aadc-deficiency/