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

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).

NCT Number	NCT06985212
Lead Sponsor	Wladimir MAUHIN, Dr Collaborators: Beaujon Hospital, University Hospital, Montpellier, Centre Hospitalier Saint Joseph Saint Luc de Lyon, Bichat Hospital, Versailles Hospital, University Hospital, Bordeaux, Hôpital de la Timone (MARSEILLE), Hôpital Claude-Huriez, Hospices Civils de Lyon, Hôpital Armand Trousseau, Centre Hospitalier de Cornouaille, Nantes University Hospital, University Hospital, Angers, Hospital BLOIS, Centre Hospitalier Universitaire de Nice, Centre Hospitalier Eure-Seine, University Hospital, Orléans, University Hospital, Toulouse, APHM - Nord, Henri Mondor University Hospital, Hôpital Européen Marseille, CH Henri Mondor (Aurillac), University Hospital, Clermont-Ferrand, Centre Hospitalier Universitaire de Saint Etienne, Hôpital Pellegrin, CHU Bordeau, Reims University hospital, Hospital Avicenne, University Hospital, Strasbourg, Hôpital Necker-Enfants Malades
Conditions	Acid Sphingomyelinase Deficiency (ASMD), Niemann Pick Disease
Enrollment	200 participants
Start Date	2025-05-15
Primary Completion	2035-04-15 (estimated)
Study Completion	2035-04-15 (estimated)
Updated on ClinicalTrials.gov	2025-05-22