Dondi Letizia, Ronconi Giulia, Dondi Leonardo, Calabria Silvia, Dell'Anno Irene, Piccinni Carlo, Addesi Alice, Esposito Immacolata, Marcellusi Andrea, Bello Luca, Martini Nello
Fondazione ReS (Ricerca e Salute), Roma.
Drugs & Health Srl, Roma.
Recenti Prog Med. 2025 May;116(5):310-321. doi: 10.1701/4495.44951.
Duchenne muscular dystrophy (DMD) is a rare disease that causes a progressive loss of muscle function in males, presenting at the age of two years, and involving respiratory and heart function starting from teenage years. This retrospective observational study has identified patients potentially affected by DMD and described their utilization of healthcare resources and direct healthcare costs charged to the Italian National Healthcare Service (INHS).
From the Foundation Ricerca e Salute (ReS), through a specific algorithm based only on administrative healthcare data of 5.4 million inhabitants in 2021 (index date), male patients aged <30 years potentially affected by DMD were identified. Comorbidities at baseline, and utilization of healthcare resources and direct healthcare costs charged to the INHS during the year following index date, were described.
In 2021, 120 male patients aged <30 years were identified as potentially affected with DMD (2.2/100,000 inhabitants; 16.1/100,000 males aged <30 years). Chronic airway disease and cardiomyopathy were found in 19.2% and 15.0% of patients, respectively. During follow-up: 41.7% of patients were treated with deflazacort, 2.5% with ataluren and about one third with cardiac drugs; 29.2% and 42.5% were admitted to overnight and day hospitalization, respectively, mainly due to neurological, cardiac, and respiratory diseases; 12.5% accessed the emergency department, mainly for traumatisms and fractures; 70.8% received local outpatient specialist care, half of which were specialist visits, and about 15% cardiac diagnostics. On average, the per capita annual total cost charged to the -INHS was € 6713; ataluren accounted for more than half of this expenditure. After having excluded the dispensation of ataluren during follow-up, the mean per capita total cost was € 2548, more than half of which due to hospitalizations.
This study of administrative data has identified patients potentially affected by DMD, a rare disease, from a large sample of INHS beneficiaries, and assessed their healthcare pathway. This is useful for regulatory purposes and for improved access to emerging innovative therapies.
杜氏肌营养不良症（DMD）是一种罕见疾病，会导致男性肌肉功能逐渐丧失，通常在两岁时发病，从青少年时期开始影响呼吸和心脏功能。这项回顾性观察研究确定了可能受DMD影响的患者，并描述了他们对医疗资源的利用情况以及意大利国家医疗服务体系（INHS）所收取的直接医疗费用。
通过特定算法，从健康研究基金会（ReS）仅基于2021年（索引日期）540万居民的行政医疗数据中，识别出年龄小于30岁、可能受DMD影响的男性患者。描述了基线时的合并症，以及索引日期后一年内对医疗资源的利用情况和INHS所收取的直接医疗费用。
2021年，120名年龄小于30岁的男性患者被确定为可能患有DMD（2.2/100,000居民；16.1/100,000年龄小于30岁的男性）。分别有19.2%和15.0%的患者患有慢性气道疾病和心肌病。在随访期间：41.7%的患者接受了地夫可特治疗，2.5%的患者接受了阿他芦醇治疗，约三分之一的患者接受了心脏药物治疗；29.2%和42.5%的患者分别因过夜和日间住院治疗，主要原因是神经、心脏和呼吸系统疾病；12.5%的患者前往急诊科就诊，主要原因是外伤和骨折；70.8%的患者接受了当地门诊专科护理，其中一半是专科门诊，约15%是心脏诊断检查。平均而言，INHS向每位患者收取的年度总费用为6713欧元；阿他芦醇占这笔支出的一半以上。在排除随访期间阿他芦醇的配药情况后，人均总费用为2548欧元，其中一半以上是由于住院治疗。
这项对行政数据的研究从INHS的大量受益人群中识别出了可能受罕见疾病DMD影响的患者，并评估了他们的医疗途径。这对于监管目的以及改善对新兴创新疗法的获取具有重要意义。
