Status:
NOT_YET_RECRUITING
National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children
Lead Sponsor:
Wladimir MAUHIN, Dr
Collaborating Sponsors:
Beaujon Hospital
University Hospital, Montpellier
Conditions:
Acid Sphingomyelinase Deficiency (ASMD)
Niemann Pick Disease
Eligibility:
All Genders
2+ years
Brief 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 ...
Detailed Description
Niemann Pick A/ AB/ B disease also known as acid sphingomyelinase deficiency (ASMD) is a very rare genetic disease. The natural history remains poorly understood. This disease leads to morbidity and m...
Eligibility Criteria
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.
Key Trial Info
Start Date :
May 15 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
April 15 2035
Estimated Enrollment :
200 Patients enrolled
Trial Details
Trial ID
NCT06985212
Start Date
May 15 2025
End Date
April 15 2035
Last Update
May 22 2025
Active Locations (1)
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1
Groupe Hospitalier Diaconesses Croix Saint-Simon
Paris, France, France, 75020