Screening for ASMD in people with diffuse interstitial lung disease
Official title: Niemann-PID: Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease
Run by Groupe Hospitalier Diaconesses Croix Saint-Simon · NCT06869499 · Data updated 2026-11-12
This study tests a screening algorithm to see if people with diffuse ILD, who may have ASMD, actually have the disease by measuring acid sphingomyelinase activity and LysoSM in a 200-person cohort.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 15 Years to 60 Years |
| Sex | All |
| Enrollment | 200 (estimated) |
| Sponsor | Groupe Hospitalier Diaconesses Croix Saint-Simon Academic / other |
| Locations | 1 site (Paris) |
| Status | Recruiting |
| Started | June 5, 2025 |
| Main results expected | March 1, 2029 |
| Study ends | March 1, 2029 |
| Registry record updated | October 15, 2026 |
| Trial ID | NCT06869499 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals aged 15 years and 3 months up to 60 years with ILD and ground-glass CT findings plus at least one risk factor (splenomegaly, splenectomy, thrombocytopenia, low HDL, or parental consanguinity).
✕Probably not a fit
Patients without ASMD or without meeting the screening criteria may not benefit from the testing results.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This multicenter study aims to optimize screening for acid sphingomyelinase deficiency (ASMD) among patients with diffuse interstitial lung disease (ILD) who have risk factors such as splenomegaly, thrombocytopenia, low HDL, or parental consanguinity. Participants will undergo a blood test to measure enzyme activity and LysoSM levels; a follow-up step may be added if needed. The goal is to validate a decision algorithm that helps clinicians identify ASMD earlier and guide management, potentially enabling access to targeted therapies such as olipudase-alfa. The trial does not test a new therapy but evaluates a screening approach to improve diagnostic yield in a population with ILD and suspected ASMD. By focusing on well-defined clinical criteria and biomarkers, the study seeks to reduce under-diagnosis of ASMD in ILD patients.
Why it matters
Potential benefit: If successful, the screening algorithm could lead to earlier and more accurate ASMD diagnosis for ILD patients, improving management and treatment decisions.
How similar studies have gone: ASMD has been linked to ILD in observational data, but dedicated prevalence/screening studies in ILD populations are limited; this approach is exploratory and builds on known biomarker associations.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
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Groupe Hospitalier Diaconesses Croix Saint-Simon
Paris, France Recruiting
Study contacts
- Principal investigator: Wladimir MAUHIN, Doctor — Groupe Hospitalier Diaconesses Croix Saint-Simon
- Study coordinator: Djazia BOUZELMAT Clinical Research Assistant
- Email: dbouzelmat@hopital-dcss.org
- Phone: + 33 01 44 64 30 98
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.