OPEN Health, London, UK.
PTC Therapeutics France SASU, Paris, France.
Curr Med Res Opin. 2022 Jul;38(7):1115-1123. doi: 10.1080/03007995.2022.2078097. Epub 2022 Jun 3.
Aromatic L-amino acid decarboxylase deficiency (AADCd) is an ultra-rare genetic neurometabolic disorder caused by mutations in the gene.
This retrospective, noninterventional study was designed to describe the burden of AADCd including the associated healthcare resource utilization in Southern Europe.
Eleven clinicians completed a patient case study survey for patients with AADCd currently or previously under their care, followed by an interview with each clinician to assess healthcare resource utilization, patient characteristics, and symptoms.
Clinicians provided data for 20 patients with AADCd, of whom 60% were male. All patients experienced movement disorders, 90% exhibited developmental delay, 85% reported sleeping problems, and 80% experienced gastrointestinal problems. The symptoms varied with disease severity. Patients with AADCd received care from more than 16 different specialists including both medical and paramedical healthcare professionals. Hospitalizations and visits to accident and emergency departments were also frequent.
In terms of symptoms and healthcare resource utilization, the burden of illness of AADCd is substantial. This study provides insights into several aspects of the disease that are difficult to ascertain from published case reports.
芳香族 L-氨基酸脱羧酶缺乏症（AADCd）是一种由 基因突变引起的超罕见遗传性神经代谢疾病。
本回顾性、非干预性研究旨在描述芳香族 L-氨基酸脱羧酶缺乏症的负担，包括在南欧的相关医疗资源利用情况。
11 名临床医生为目前或之前在其治疗下的芳香族 L-氨基酸脱羧酶缺乏症患者完成了患者病例研究调查，随后对每位临床医生进行了访谈，以评估医疗资源利用、患者特征和症状。
临床医生为 20 名芳香族 L-氨基酸脱羧酶缺乏症患者提供了数据，其中 60%为男性。所有患者均有运动障碍，90%有发育迟缓，85%有睡眠问题，80%有胃肠道问题。症状随疾病严重程度而变化。芳香族 L-氨基酸脱羧酶缺乏症患者接受了超过 16 种不同专家的治疗，包括医疗和非医疗保健专业人员。住院和急诊部门就诊也很频繁。
就症状和医疗资源利用而言，芳香族 L-氨基酸脱羧酶缺乏症的疾病负担很大。本研究提供了一些关于该疾病的难以从已发表的病例报告中确定的方面的见解。
