Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease

The goal of this clinical trial is to optimise and facilitate screening for Acid SphingoMyelinase Deficiency (ASMD) disease, by evaluating acid sphingomyelinase activity and, where appropriate, LysoSM levels in a cohort of 200 participants with diffuse interstitial lund disease (ILD) at risk of developing ASMD disease. ILD is common in the general population, so in order to limit the number of differential diagnoses, the population to be studied will be restricted to participants aged between 15 years and 3 months and 60 years, with ILD plus ground-glass opacities on chest CT scan certified by a pulmonologist/radiologist or internist, AND splenomegaly or splenectomy, and/or thrombocytopenia, and/or low HDL cholesterol, and/or parental consanguinity which increase the sensitivity of ASMD screening. In this clinical trail, two procedures are added, participants will be asked for : * a blood sample to measure the acid sphingomyelinase enzyme activity and LysoSM, if required. * a follow-up visit at 6 months

NCT Number	NCT06869499
Lead Sponsor	Wladimir MAUHIN, Dr Collaborators: Bichat Hospital, Hospital Avicenne, Rennes University Hospital, Bicetre Hospital, University Hospital, Marseille, Tenon Hospital, Paris, Centre Hospitalier Universitaire Dijon, University Hospital, Lille, Hospices Civils de Lyon
Conditions	Splenomegaly, Splenectomy, Thrombopenia, Interstitial Lung Disease (ILD), Hypocholesterolemia
Enrollment	200 participants
Start Date	2025-05
Primary Completion	2029-03-01 (estimated)
Study Completion	2029-03-01 (estimated)
Updated on ClinicalTrials.gov	2025-05-18