Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study.

Acid sphingomyelinase deficiency (ASMD) is a rare, lysosomal storage disease with limited evidence on its natural history. This retrospective, medical record abstraction study aimed to characterize the natural history of ASMD (types B and A/B) during childhood and adolescence. Recruiting sites were European centers (i.e., France, Germany, Italy, and the United Kingdom) from the ASCEND-Peds trial (NCT02292654); these sites were targeted because of the rarity of ASMD and specialized care provided at these centers. The study population comprised ASMD trial patients (before exposure to treatment) and ASMD non-trial participants who were managed at the same trial sites. Overall, 18 patients were included (11 trials; 7 non-trials; median [Q1; Q3] age at ASMD diagnosis: 2.5 [1.0; 4.0] years). Median follow-up duration was 10.0 years. Frequently reported medical conditions were hepatobiliary (17 [94.4%]) and blood and lymphatic system disorders (16 [88.9%]). Adenoidectomy (3 [16.7%]) was the most commonly reported surgical procedure; gastroenteritis (5 [27.8%]) was the most frequently reported infection, and epistaxis (6 [33.3%]) was the most commonly reported bleeding event. Abnormal spleen (16 [88.9%]) and liver (15 [83.3%]) size and respiratory function (8 [44.4%]) were commonly reported during physical examination. Overall, 11 (61.1%) patients were hospitalized; 6 (33.3%) patients had emergency room visits. Findings were consistent with published literature and support the current understanding of natural history of ASMD.
Competing Interests: Declaration of competing interest Eugen Mengel received research grants, speakers' fees, and consulting honoraria from Sanofi, Orphazyme, Takeda, Cyclo Therapeutics, Idorsia, JCR, Denali, Amicus, and Avrobio. Maurizio Scarpa received funds for research and honoraria from Sanofi, Takeda, Chiesi, Ultragenyx, Amicus, Azafaros, BioMarin, and Orchard. Nathalie Guffon received some fees from Sanofi, Chiesi, and Ultragenyx as an expert in Advisory Board and is an employee of Reference Center for Inherited Metabolic Disorders that received a grant for clinical trials (Sanofi, Chiesi, BioMarin, Takeda, and JCR). Simon A Jones received speaker's and consultancy fees from Sanofi and BioMarin. Vishal Goriya and Carly Rodriguez reported being employed by IQVIA, which received funding from Sanofi for this research. Valerie Dyevre, Jérôme Msihid, Maja Gasparic, and Ruth Pulikottil-Jacob are employees of Sanofi and may hold stocks and/or stock options in the company. Lubomyra Nalysnyk holds stocks in Sanofi. Fernando Laredo was an employee of Sanofi at the time of this research.
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