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National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children
Sponsor: Wladimir MAUHIN, Dr
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).
Official title: Study of the Natural History of Acid Sphingomyelinase Deficiency (ASMD): National, Multicenter Cohort of Adult and Pediatric Patients _FASMD (French Prospective Cohort ASMD)
Key Details
Gender
All
Age Range
2 Years - Any
Study Type
OBSERVATIONAL
Enrollment
200
Start Date
2025-05-15
Completion Date
2035-04-15
Last Updated
2025-05-22
Healthy Volunteers
No
Locations (1)
Groupe Hospitalier Diaconesses Croix Saint-Simon
Paris, France, France