Not Yet RecruitingNot Applicable

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

France200 participantsStarted 2025-05-15

Plain-language 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).

Who can participate

Age range2 Years

SexALL

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Inclusion criteria

✓. 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 criteria

✕. Inability to understand the information provided,
✕. Under guardianship, trusteeship or judicial protection,
✕. Under detention or deprived of liberty by judicial or administrative decision.

What they're measuring

To describe the natural history of ASMD (symptoms, complications)

Timeframe: 120 months

Trial details

NCT IDNCT06985212

SponsorWladimir MAUHIN, Dr

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2035-04-15

View on ClinicalTrials.gov More Acid Sphingomyelinase Deficiency (ASMD) trials