ClinicalTrials.gov record NCT06985212

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusNot yet recruitingThe study has been registered but has not started enrolling. Sites and contacts may not be listed yet.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age2 years old and older
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a national, multicenter observational cohort that follows children and people with ASMD over time to describe symptoms, complications, and quality of life. Participants may be receiving specific treatments or not; the study collects clinical and social data without assigning therapies. The planned follow-up is up to 120 months.

What it is studying. The study aims to document how ASMD develops over time in children and adults, how the disease affects daily life and quality of life, and how existing treatments and patient characteristics relate to outcomes.

What the researchers hope to learn. Describe the natural history of ASMD (symptoms and complications) in treated and untreated patients. Identify prognostic factors (genetic, biochemical, symptomatic, radiological, social), evaluate available treatments, map phenotypic forms nationally, and document social issues associated with the disease.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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).

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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).

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will have their medical history and clinical data collected and be followed over time for up to 120 months to document symptoms, complications, treatments and quality of life. Data collected may include genetic, biochemical, radiological, symptomatic and social information and questionnaires about daily life. Follow-up may involve clinic visits and review of medical records. The registry record does not list any invasive study procedures.

How the study is structured. Prospective, multicenter observational cohort (registry). Up to 200 pediatric and adult participants with confirmed ASMD will be followed and assessed over a planned 120-month period. The study does not assign any treatments; it collects medical, functional and quality-of-life information at regular visits.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The registry lists this study under Acid Sphingomyelinase Deficiency (ASMD); Niemann Pick Disease. Does it apply to my diagnosis?
  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The registry says recruitment has not started. When is it expected to open, and can I register interest now?
  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Niemann-Pick disease type C

Clinical trials15 trials listed for Niemann-Pick disease type CEvery trial the registry lists for Niemann-Pick disease type C, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Niemann-Pick disease type C researchLatest monthly update: September 2026. Includes: Gene change range. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
May 15, 2025 (estimated)
Primary completion
Apr 15, 2035 (estimated)
Study completion
Apr 15, 2035 (estimated)
Target enrollment
200 participants (estimated)
Last updated on registry
May 22, 2025
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

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

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

natural history
A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
cohort
A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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