NCT06985212Recruiting
National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children
Study of the Natural History of Acid Sphingomyelinase Deficiency (ASMD): National, Multicenter Cohort of Adult and Pediatric Patients _FASMD (French Prospective Cohort ASMD)
Source: ClinicalTrials.gov · Last updated 15 Oct 2026
Brief summary (registry, in English)
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).
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 200 (estimated)
- First submitted
- 18 Mar 2025
- Start date
- 2 May 2025
- Primary completion date
- 15 Apr 2035
- Lead sponsor
- Wladimir MAUHIN, Dr
- Diseases
- Frontotemporal dementia
- NCT number
- NCT06985212
What you commit to
- Study type: Observational
- Planned participants: 200
- From 2 May 2025 to the primary completion date, 15 Apr 2035
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- Inability to understand the information provided,
- Under guardianship, trusteeship or judicial protection,
- Under detention or deprived of liberty by judicial or administrative decision.
Who the study is looking for
- Any patient aged at least 2 years, with a confirmed diagnosis of ASMD determined by a lowered acid sphingomyelinase assay.
- Have received written and oral information about the protocol and have not expressed opposition to participating in the study.
- Affiliated to the social security system or entitled to benefits (excluding AME).
Age in the registry: 2 years to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Save your city in your profile to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Groupe Hospitalier Diaconesses Croix Saint-Simon Coordinator of this site? Confirm its status | Paris | France | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.