Natural history of acid sphingomyelinase deficiency in adults and children

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a multicenter observational cohort study designed to describe the natural history of ASMD in both adults and children aged 2 years and older. Participants may have received the new treatment available since 2023 or standard care, and data will focus on disease progression, symptoms, and quality of life. The study collects information from patients diagnosed with ASMD via confirmed low acid sphingomyelinase activity and does not involve a specified intervention. Outcomes will inform clinical management and understanding of how ASMD impacts daily living. The research is coordinated by the Internal Medicine Department at GHDCSS in Paris with French centers collaborating.

Why it matters

Who can join: the full rules

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.

Where it's running

• Groupe Hospitalier Diaconesses Croix Saint-Simon
  Paris, France, France Recruiting

Study contacts

• Study coordinator: Djazia BOUZELMAT, Clinical Research Assistant
• Email: dbouzelmat@hopital-dcss.org
• Phone: 0144643098

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.