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Clinical Trials in France / NCT06985212
Recruiting Observational

National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children

NCT06985212 · tracked via the Priya Life Science France tracker
Sponsor
Wladimir MAUHIN, Dr
Phase
Observational
Started
2025-05-02
Last updated
2026-10-15

Condition(s) studied

Acid Sphingomyelinase Deficiency (ASMD)Niemann Pick Disease

Study summary

The goal of this study is to describe the natural history of ASMD in adult and paediatric patients with or without specific treatment in order to assess the impact of the disease on their daily lives and quality of life.

The population concerned corresponds to patients aged at least 2 years, with a definite diagnosis of ASMD as determined by a confirmed low acid sphingomyelinase assay and who have not expressed their opposition to participating in this research (patients and/or parental authority).

Eligibility

Sex
ALL
Min age
2 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria: 1. Any patient aged at least 2 years, with a confirmed diagnosis of ASMD determined by a lowered acid sphingomyelinase assay. 2. Have received written and oral information about the protocol and have not expressed opposition to participating in the study. 3. Affiliated to the social security system or entitled to benefits (excluding AME). Exclusion Criteria: 1. Inability to understand the information provided, 2. Under guardianship, trusteeship or judicial protection, 3. Under detention or deprived of liberty by judicial or administrative decision.

Primary outcome measure(s)

  • Natural history of ASMD (symptoms, complications) — 120 months
    Natural history of ASMD, assessed by describing the occurrence and progression of symptoms, organ involvement, disease-related complications, and clinical outcomes in paediatric and adult patients, according to treatment exposure (treated versus untreated). Quality of life will be evaluated using validated age-appropriate patient-reported outcome measures and summarized descriptively over the course of follow-up.

Trial sites (1)

FacilityCityRegionStatus
Groupe Hospitalier Diaconesses Croix Saint-Simon Paris France Recruiting

More Wladimir MAUHIN, Dr trials in France

Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease Recruiting
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06985212 on ClinicalTrials.gov ↗ ← All trials in France