Follows people with acid sphingomyelinase deficiency over time
Observes how the disease progresses in children and adults, with or without treatment.
Key facts
- Who runs it
- Wladimir MAUHIN, Dr
- Where
- Paris, FranceSee the site
- Trial code
- Registry title
- National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children
- Status
- Recruiting
- People taking part
- 200 people, planned
- Started
- 2 May 2025
- Expected to end
- 15 Apr 2035
- Type of study
- Observational
- Record updated
- 15 October 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for children and adults aged 2 years or older with a confirmed diagnosis of acid sphingomyelinase deficiency (ASMD). It follows how the disease develops over time.
- Age
- 2 years or older
- Sex
- All sexes can join.
- Disease stage
- Confirmed ASMD, shown by a low acid sphingomyelinase test.
- Earlier treatment
- Not stated. People with or without specific treatment are included.
- Biomarker or test result
- Low acid sphingomyelinase test result.
Main reasons for not taking part
- Cannot understand the information given about the study
- Under guardianship, trusteeship or judicial protection
- Deprived of liberty by a judicial or administrative decision
- Not affiliated to the social security system or entitled to its benefits
The registry criteria, word for word
Show all 6 criteriaShow less
Who can take part
- 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)
Who cannot take part
- Inability to understand the information provided,
- Under guardianship, trusteeship or judicial protection,
- Under detention or deprived of liberty by judicial or administrative decision
Where in France
- Groupe Hospitalier Diaconesses Croix Saint-SimonParis, FranceContact: Djazia BOUZELMAT, Clinical Research AssistantTaking people
About the trial
What the trial wants to find out
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.
Read full original descriptionShow less
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).
The group in the trial
- Experimental Cohort
A cohort of 200 pediatric and adult participants, diagnosed of ASMD, as established by a confirmed low acid sphingomyelinase assay, and who have not given their opposition (patient and/or parent) to participate in this research.
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Study of the Natural History of Acid Sphingomyelinase Deficiency (ASMD): National, Multicenter Cohort of Adult and Pediatric Patients _FASMD (French Prospective Cohort ASMD)
- Plain-language title
- Follows people with acid sphingomyelinase deficiency over timeGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 12 November 2026.
- Record updated
- 15 October 2026