Burden of illness of acid sphingomyelinase deficiency (ASMD) in Brazil: A retrospective chart review study

Roberto Giugliani ¹ Carolina Fischinger de Souza ² Fernando Laredo ³ Gaelle Gusto ⁴ Daniela Carlini ³ Aastha Chandak ⁵ Tamar Banon ⁶ Artak Khachatryan ⁷ Ruth Pulikottil-Jacob ⁸

¹Ufrgs, Hcpa, Inagemp, Dasa, Casa Dos Raros, Porto Alegre, Brazil
²Medical Genetics Service, HCPA, Casa dos Raros, Porto Alegre, Brazil
³Sanofi, Sao Paulo, Brazil
⁴Certara, Paris, France
⁵Certara, New York, USA
⁶Certara, Montreal, Canada
⁷Certara, London, UK
⁸Sanofi, Reading, UK

Background: ASMD is a rare lysosomal storage disease, with multisystemic clinical manifestations. Presently, survival data for patients with ASMD in Brazil are limited. This study assessed demographics and survival probability of patients with ASMD type B and type A/B in Brazil.

Methods: This observational, multicenter, retrospective chart review analyzed demographics, medical history, and mortality in patients (n=24) with ASMD type B or type A/B using medical records in Brazil from January 1, 1986 to May 31, 2021. Demographics of a larger ASMD cohort (n=124) (same study period) were also retrieved from Hospital de Clínicas de Porto Alegre.

Results: A significant proportion of the larger ASMD cohort data could not be identified/extracted to conduct necessary analysis. The main cohort (14/24 females; 23/24 pediatrics at the first symptom onset/diagnosis) included 21 patients with ASMD type B and 3 with type A/B. The mean [SD] age at the first symptom onset/diagnosis was 3.57 [7.37] years (yrs) and that at the last follow-up/death was 17.33 [14.70] yrs. Hepatobiliary manifestations were the most common clinical findings at the first symptom onset/diagnosis (75.0%) and last follow-up/death (83.3%). Most patients reported abnormal alanine aminotransferase (15/22) and aspartate aminotransferase (16/21) at the last follow-up/death. Overall, two deaths (mean [SD] age at death: 2.74 [1.94] yrs) were reported in ASMD type A/B. Due to low death counts during the follow-up and inability to extract a significant identified ASMD cohort sample, median survival time from birth could not be estimated.

The majority of the larger cohort (mean [SD] age at diagnosis: 16.40 [12.90] yrs; [n=94]; females: 60/119) included patients with ASMD type B (94/124); the highest ASMD prevalence/100,000 residents was reported in Distrito Federal (0.13) and Ceará (0.12) in 2021 (n=108).

Conclusion: This study reinforced the burden of illness in patients with ASMD type B or type A/B in Brazil.