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

Summary

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

Conditions

• Splenomegaly
• Splenectomy
• Thrombopenia
• Interstitial Lung Disease (ILD)
• Hypocholesterolemia

Interventions

PROCEDURE

Blood sampling for dosage

4ml blood sample to measure acid sphingomyelinase enzyme activity and LysoSM, if required.

Sponsors & Collaborators

• Bichat Hospital

  collaborator OTHER

• Hospital Avicenne

  collaborator OTHER

• Rennes University Hospital

  collaborator OTHER

• Bicetre Hospital

  collaborator OTHER

• University Hospital, Marseille

  collaborator OTHER

• Tenon Hospital, Paris

  collaborator OTHER

• Centre Hospitalier Universitaire Dijon

  collaborator OTHER

• University Hospital, Lille

  collaborator OTHER

• Hospices Civils de Lyon

  collaborator OTHER

• Wladimir MAUHIN, Dr

  lead OTHER

Principal Investigators

• Wladimir MAUHIN, Doctor · Groupe Hospitalier Diaconesses Croix Saint-Simon

Study Design

Allocation

NA

Purpose

SCREENING

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

15 Years

Max Age

60 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2025-05-31

Primary Completion

2029-03-01

Completion

2029-03-01

Countries

• France

Study Locations