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

Trial statusNot yet recruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age15-60
SponsorWladimir MAUHIN, Dr

About this trial

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

Eligibility criteria

Qualifiers

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)

Disqualifiers

Inability to understand the information provided.

Under guardianship, curatorship or legal protection.

Under restraint or deprived of liberty by judicial or administrative decision.

Trial design

Treatments tested in this trial

  • Blood sampling for dosage

Treatment groups

200 Participants
are divided into 1 treatment group

Sponsors and collaborators

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