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NCT Number: NCT06985212

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).

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Key information

Conditions

Acid Sphingomyelinase Deficiency (ASMD) Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hemic and Lymphatic Diseases Histiocytosis Histiocytosis, Non-Langerhans-Cell Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lymphatic Diseases Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Niemann Pick Disease Niemann-Pick Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Age range

2 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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).

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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

    Time frame: 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 outcomes

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

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

Wladimir MAUHIN, Dr

Other

Collaborators

  • APHM - Nord
  • Beaujon Hospital
  • Bichat Hospital
  • CH Henri Mondor (Aurillac)
  • Centre Hospitalier Eure-Seine
  • Centre Hospitalier Saint Joseph Saint Luc de Lyon
  • Centre Hospitalier Universitaire de Nice
  • Centre Hospitalier Universitaire de Saint Etienne
  • Centre Hospitalier de Cornouaille
  • Henri Mondor University Hospital
  • Hospices Civils de Lyon
  • Hospital Avicenne
  • Hospital BLOIS
  • Hôpital Armand Trousseau
  • Hôpital Claude-Huriez
  • Hôpital Européen Marseille
  • Hôpital Necker-Enfants Malades
  • Hôpital Pellegrin, CHU Bordeau
  • Hôpital de la Timone (MARSEILLE)
  • Nantes University Hospital
  • Reims University hospital
  • University Hospital, Angers
  • University Hospital, Bordeaux
  • University Hospital, Clermont-Ferrand
  • University Hospital, Montpellier
  • University Hospital, Orléans
  • University Hospital, Strasbourg
  • University Hospital, Toulouse
  • Versailles Hospital

Registry information

Official study title

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

Acronym: FASMD

Important dates

Study start
2025
Primary completion
2035
Study completion
2035
First posted
May 22, 2025
Registry last updated
May 22, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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