Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data.

ABSTRACT: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and potentially fatal lysosomal storage disease. This two-part international study aimed to understand physician, patient, and caregivers' experiences during the ASMD diagnostic journey. Qualitative interviews were conducted with patients with ASMD type B or A/B, caregivers (for patients <18 years), and physicians (January 2018-May 2019). A quantitative patient chart review was then performed by physicians (1-3 charts per physician) (April to May 2020). Overall, 12 physicians and 27 patients (self-reported, n = 11; caregiver-reported, n = 16) completed qualitative interviews. Symptoms first presented at approximately 2 years, with physician visits 2 months-1 year later. On average, diagnosis took 3 years and aver

SUBMITTER: Doerr A 

PROVIDER: S-EPMC10926222 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature