Clinical trial NCT06985212: National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children
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)
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Acid Sphingomyelinase Deficiency (ASMD)
Niemann Pick Disease
Keywords: ASMD
ASMD Pick A/A-B/B
registry
database
Lead sponsor: Groupe Hospitalier Diaconesses Croix Saint-Simon
Sponsor class: OTHER
Collaborators: name: Beaujon Hospital
name: University Hospital, Montpellier
name: Centre Hospitalier Saint Joseph Saint Luc de Lyon
name: Bichat Hospital
name: Versailles Hospital
name: University Hospital, Bordeaux
name: Hôpital de la Timone (MARSEILLE)
name: Hôpital Claude-Huriez
name: Hospices Civils de Lyon
name: Hôpital Armand Trousseau
name: Centre Hospitalier de Cornouaille
name: Nantes University Hospital
name: University Hospital, Angers
name: Hospital BLOIS
name: Hôpital Pasteur, CHU Nice
name: Centre Hospitalier Eure-Seine
name: University Hospital, Orléans
name: University Hospital, Toulouse
name: APHM - Nord
name: Henri Mondor University Hospital
name: Hôpital Européen Marseille
name: CH Henri Mondor (Aurillac)
name: University Hospital, Clermont-Ferrand
name: Centre Hospitalier Universitaire de Saint Etienne
name: Hôpital Pellegrin, CHU Bordeau
name: Reims University hospital
name: Hospital Avicenne
name: University Hospital, Strasbourg
name: Necker Hospital, 75015 Paris
First posted: 2025-05-22
Enrollment: 200
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The target population will be patients aged 2 years or older with a definite diagnosis of ASMD, as determined by a confirmed low acid sphingomyelinase assay, and who have not given their opposition (patient and/or parent) to participate in this research.

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).

Eligibility criteria: 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.

Primary outcomes:
measure: To describe the natural history of ASMD (symptoms, complications)
timeFrame: 120 months
Secondary outcomes:
measure: Identify of prognostic factors, available treatments and phenotypic forms of the disease
timeFrame: 120 months
Other outcomes:
Locations:
city: Paris
country: France
facility: Groupe Hospitalier Diaconesses Croix Saint-Simon
Study officials:
affiliation: Groupe Hospitalier Diaconesses Croix Saint-Simon
name: Wladimir Mauhin, MD PhD
role: STUDY_DIRECTOR
References: