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
Interstitial lung disease with ground-glass lesions on a chest CT scan certified by a pneumologist/radiologist or internist.
Splenomegaly (palpable spleen or craniocaudal length ≥ 13 cm)
Splenectomy
Thrombocytopenia (platelets < 150 G/L)
Inability to understand the information provided.
Under guardianship, curatorship or legal protection.
Under restraint or deprived of liberty by judicial or administrative decision.
Single group
Blood sampling for dosage
Procedure/Surgery4ml blood sample to measure acid sphingomyelinase enzyme activity and LysoSM, if required.
Optimising screening for ASMD in a population of adult patients with diffuse interstitial pneumopathy
To optimise and facilitate screening for ASMD by evaluating acid sphingomyelinase activity and, where appropriate, LysoSM levels in a cohort of 200 patients with diffuse interstitial pneumopathy disease at risk of developing ASMD.
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Wladimir MAUHIN, Dr
Lead sponsor
Groupe Hospitalier Diaconesses Croix Saint-Simon
Sponsor institution
Bichat Hospital
Collaborator
Hospital Avicenne
Collaborator
Rennes University Hospital
Collaborator
Bicetre Hospital
Collaborator
University Hospital, Marseille
Collaborator
Tenon Hospital, Paris
Collaborator
Centre Hospitalier Universitaire Dijon
Collaborator
University Hospital, Lille
Collaborator
Hospices Civils de Lyon
Collaborator
This trial is not recruiting at the moment. You can still explore other options:
