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

RecruitingNAAges 15 Years - 60 YearsAllWladimir MAUHIN, Dr
NCT06869499 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 b

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📋 Eligibility rules (as published)
Inclusion Criteria: 1. Interstitial lung disease with ground-glass lesions on a chest CT scan certified by a pneumologist/radiologist or internist. 2. At least one of the following criteria : * Splenomegaly (palpable spleen or craniocaudal length ≥ 13 cm) * Splenectomy * Thrombocytopenia (platelets \< 150 G/L) * Low HDL-cholesterol (\<0.4 g/l or 1.03 mmol/l) * Notion of parental consanguinity 3. Have given their written informed consent, in accordance with regulations. 4. Affiliated to the social security system or entitled beneficiary (excluding AME). Exclusion Criteria: 1. Inability to understand the information provided. 2. Under guardianship, curatorship or legal protection. 3. Under restraint or deprived of liberty by judicial or administrative decision.
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What it tests

  • Blood sampling for dosage
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Where

1 site
Groupe Hospitalier Diaconesses Croix Saint-Simon
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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