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

Wladimir MAUHIN, Dr

Status: Not yet enrolling

Conditions: Niemann Pick Disease; Acid Sphingomyelinase Deficiency (ASMD)

Study type: Observational

Funder types: Other

Identifiers

NCT06985212

2024-A01376-41

Details and patient eligibility

About

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).

Full 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 mortality. A specific effective treatment has been available since 2023.

The Internal Medicine Department of the Groupe Hospitalier Diaconesses Croix Saint-Simon (GHDCSS), reference center for lysosomal diseases, develops this clinical study in order to better understand the natural history of Niemann Pick A/ AB/ B disease, and better manage the symptoms, the complications and also the impact of this new treatment, particularly on daily life (quality of life). This French multicenter cohort research is coordinated by Dr Wladimir MAUHIN, (Internal medicine department, GHDCSS, Paris).

Enrollment: 200 estimated patients

Sex: All

Ages: 2+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

200 participants in 1 patient group

Experimental Cohort

Description:

A cohort of 200 pediatric and adult participants, diagnosed of ASMD, as established by a confirmed low acid sphingomyelinase assay, and who have not given their opposition (patient and/or parent) to participate in this research.