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

NCT06869499 | Not Yet Recruiting

• 1 other identifier: 2024-A00050-47
• Study Type: interventional
• Target: 200
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Acid sphingomyelinase deficiency; Ground glass lesions; Niemann Pick A/B, B; lysoSM; smpd1; splenomegaly; interstitial lung disease; screening; acid sphingomyelinase

Outcome Measures

Primary Outcomes (1)

• 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.

  12 months

Study Arms (1)

Experimental Cohort

EXPERIMENTAL

The participants will be asked for a : 1. Venous blood collection (4ml EDTA tube) for the determination of : * acid sphingomyelinase enzyme activity in all participants included in the study. The determination of acid sphigomyelinase enzyme activity will be performed using a multiplex blotting assay that allows simultaneous determination of acid sphigomyelinase activity (ASMD) by tandem MS/MS mass spectrometry, but also Beta-glucocerebrosidase (Gaucher disease), alpha-galactosidase (Fabry disease), Maltase Acid (Pompe disease), Galactocerebrosidase (Krabbe disease), Alpha-L iduronidase (control enzyme) (MPSI)). * if acid sphingomyelinase activity \< 1.82 μmol/h/l (decreased) is detected, the concentration of lysoSM should be determined on the same sample. 2. Appropriate participant care management in the event of a positive ASMD screening.

Procedure: Blood sampling for dosage

Interventions

Blood sampling for dosage PROCEDURE

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

Experimental Cohort

Eligibility Criteria

• Age: 15 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Interstitial lung disease with ground-glass lesions on a chest CT scan certified by a pneumologist/radiologist or internist.
• 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
• Have given their written informed consent, in accordance with regulations.
• Affiliated to the social security system or entitled beneficiary (excluding AME).

You may not qualify if:

• Inability to understand the information provided.
• Under guardianship, curatorship or legal protection.
• Under restraint or deprived of liberty by judicial or administrative decision.

Sponsors & Collaborators

• Wladimir MAUHIN, Dr: lead
• 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

Study Sites (1)

Groupe Hospitalier Diaconesses Croix Saint-Simon

Paris, 75020, France

Location

MeSH Terms

Conditions

Splenomegaly; Thrombocytopenia; Lung Diseases, Interstitial; Niemann-Pick Diseases

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Hypertrophy; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms; Blood Platelet Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Cytopenia; Lung Diseases; Respiratory Tract Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Wladimir MAUHIN, Doctor

  Groupe Hospitalier Diaconesses Croix Saint-Simon

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Djazia BOUZELMAT Clinical Research Assistant

CONTACT

+ 33 01 44 64 30 98; dbouzelmat@hopital-dcss.org

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Internist

Model Details: This study is a multicenter prospective interventional research involving humans with minimal risks and constraints. The minimal risks and study add-ons are: -4ml blood sample for acid sphingomyelinase enzyme activity and LysoSM, if required.

Study Record Dates

• First Submitted: February 19, 2025
• First Posted: March 11, 2025
• Study Start: May 1, 2025
• Primary Completion (Estimated): March 1, 2029
• Study Completion (Estimated): March 1, 2029
• Last Updated: May 18, 2025

Record last verified: 2025-02

Locations

FR (1)