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

Recruitingn/aAges 2 Years - anyAllWladimir MAUHIN, Dr
NCT06985212 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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).

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📋 Eligibility rules (as published)
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.
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What it tests

  • Not listed
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Where

1 site
Groupe Hospitalier Diaconesses Croix Saint-Simon
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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