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

Study of the Natural History of Acid Sphingomyelinase Deficiency (ASMD): National, Multicenter Cohort of Adult and Pediatric Patients _FASMD (French Prospective Cohort ASMD)

Status

Not yet recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06985212

Acronym

FASMD

Enrollment

200

Registered

2025-05-22

Start date

2025-05-15

Completion date

2035-04-15

Last updated

2025-05-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Acid Sphingomyelinase Deficiency (ASMD), Niemann Pick Disease

Keywords

ASMD, ASMD Pick A/A-B/B, registry, database

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 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).

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 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).

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

2 Years to No maximum

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.

Design outcomes

Primary

Measure	Time frame	Description
To describe the natural history of ASMD (symptoms, complications)	120 months	To describe the natural history of ASMD (symptoms, complications) in adult and paediatric patients with and without therapeutic treatment and to assess their quality of life.

Secondary

Measure	Time frame	Description
Identify of prognostic factors, available treatments and phenotypic forms of the disease	120 months	* Identify prognostic factors for the disease: genetic, biochemical, symptomatic, radiological and social. * Evaluate the therapeutic treatments available. * List the different phenotypic forms on a national scale. * To highlight the social problems associated with the disease.

Countries

France

Outcome results