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Not yet recruiting NCT06985212

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

— Observational Acid Sphingomyelinase Deficiency (ASMD) Niemann Pick Disease

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Acid Sphingomyelinase Deficiency (ASMD), Niemann Pick Disease. Basic parameters: from 2 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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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)

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).

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).

Primary outcome measures

  • To describe the natural history of ASMD (symptoms, complications) [Time frame: 120 months]
Secondary outcome measures (1)
  • Identify of prognostic factors, available treatments and phenotypic forms of the disease [Time frame: 120 months]

Eligibility criteria

Inclusion criteria

  • Any patient aged at least 2 years, with a confirmed diagnosis of ASMD determined by a lowered acid sphingomyelinase assay.
  • Have received written and oral information about the protocol and have not expressed opposition to participating in the study.
  • Affiliated to the social security system or entitled to benefits (excluding AME).

Exclusion criteria

  • Inability to understand the information provided,
  • Under guardianship, trusteeship or judicial protection,
  • Under detention or deprived of liberty by judicial or administrative decision.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

France · 1 center
  • Groupe Hospitalier Diaconesses Croix Saint-Simon — Paris

Identifiers

NCT: NCT06985212 · 2024-A01376-41

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗