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

N/ANot Yet RecruitingNCT06985212

Wladimir MAUHIN, Dr200 enrolled

Overview

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).

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).

Study Type

OBSERVATIONAL

Enrollment

200

Conditions

Acid Sphingomyelinase Deficiency (ASMD)Niemann Pick Disease

Eligibility

Sex: ALLMin age: 2 Years

Medical Language ↔ Plain English

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.

Outcomes

Primary Outcomes

To describe the natural history of ASMD (symptoms, complications)

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.

Time frame: 120 months

Secondary Outcomes

Identify of prognostic factors, available treatments and phenotypic forms of the disease

* 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.