Follows people with acid sphingomyelinase deficiency over time
Observes how the disease progresses in children and adults, with or without treatment.
Plain-language title generated from the registry record
Registry title: National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children
Key facts
- Where
- Paris, FranceSee the site
Where in France
- Groupe Hospitalier Diaconesses Croix Saint-SimonParis, FranceTaking people
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?
Trial details
- Who runs it
- Wladimir MAUHIN, Dr
- Trial code
- NCT06985212
- Record updated
- 15 October 2026
- Original description
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
Study of the Natural History of Acid Sphingomyelinase Deficiency (ASMD): National, Multicenter Cohort of Adult and Pediatric Patients _FASMD (French Prospective Cohort ASMD)
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).
Inclusion: 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).
Exclusion: Inability to understand the information provided,; Under guardianship, trusteeship or judicial protection,; Under detention or deprived of liberty by judicial or administrative decision.