Acid Sphingomyelinase Deficiency (ASMD)FASMDNCT06985212
National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children
An observational study of Acid Sphingomyelinase Deficiency (ASMD) and Niemann Pick Disease, run by Wladimir MAUHIN, Dr at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Acid Sphingomyelinase Deficiency (ASMD), Niemann Pick Disease
- How many people
- 200 participants
- Where
- 1 siteFrance
- Study dates
- 2 May 2025to 15 Apr 2035
- How long will I take part?
- 120 Months
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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).
Who cannot join
- Inability to understand the information provided,
- Under guardianship, trusteeship or judicial protection,
- Under detention or deprived of liberty by judicial or administrative decision.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Groupe Hospitalier Diaconesses Croix Saint-Simon
Paris, France, 75020
Djazia BOUZELMAT, Clinical Research Assistant, +33 01 44 64 30 98, dbouzelmat@hopital-dcss.org
Rahma MKHININI, Clinical Reasearch Assistant, +33 01 44 64 30 95, rmkhinini@hopital-dcss.org
About this study
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)
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).
Read the 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).
- Keywords
- ASMD, ASMD Pick A/A-B/B, registry, database
- Medical subject headings
- Niemann-Pick Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Experimental Cohort | A cohort of 200 pediatric and adult participants, diagnosed of ASMD, as established by a confirmed low acid sphingomyelinase assay, and who have not given their opposition (patient and/or parent) to participate in this research. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Natural history of ASMD (symptoms, complications)
Natural history of ASMD, assessed by describing the occurrence and progression of symptoms, organ involvement, disease-related complications, and clinical outcomes in paediatric and adult patients, according to treatment exposure (treated versus untreated). Quality of life will be evaluated using validated age-appropriate patient-reported outcome measures and summarized descriptively over the course of follow-up.
Measured: 120 months
Secondary outcomes (4)
Distribution and characterization of disease phenotypes.
Phenotypic forms will be defined according to pre-specified clinical, biological, genetic, and/or radiological criteria. The outcome will be measured by:
- Number and proportion of participants in each phenotypic category;
- Demographic characteristics associated with each phenotype;
- Clinical and paraclinical features associated with each phenotype;
- Geographic distribution of phenotypes across the national cohort.
Measured: 120 months
Longitudinal evaluation of currently available therapeutic treatment
Documentation of treatments received by participants, including treatment type, indication for treatment initiation, treatment duration, modifications or discontinuations, treatment response, and treatment-related adverse events. Disease progression and patient outcomes will also be assessed and described according to treatment exposure.
Measured: 120 months
Characterization of phenotypic forms identified among participants at the national level, in France.
Characterization of phenotypic forms identified among participants at the national level, based on clinical manifestations, biological parameters, imaging findings, genetic characteristics, and disease severity indicators.
Measured: 120 months
Social impact of the disease
Social impact associated with the disease, assessed through the collection of information related to education, employment, daily activities, social participation, family life, and access to healthcare and social support services.
Measured: 120 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 May 2025
- Study start2 May 2025
- Primary completion15 Apr 2035 (estimated)
- Study completion15 Apr 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Acid Sphingomyelinase Deficiency (ASMD)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
- Target duration
- 120 Months
Sponsor and investigators
- Lead sponsor
- Wladimir MAUHIN, Dr
- Sponsor type
- University, hospital or other
- 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
- Responsible party
- Sponsor-investigator, Wladimir MAUHIN, Dr, Groupe Hospitalier Diaconesses Croix Saint-Simon
- Investigators
- Wladimir Mauhin, MD PhD, Study director, Groupe Hospitalier Diaconesses Croix Saint-Simon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06985212
- Sponsor's protocol ID
- 2024-A01376-41
- Acronym
- FASMD
- Status last verified
- Oct 2026
- First submitted
- 18 Mar 2025
- Last updated
- 15 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: undefined
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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)
- ClinicalTrials.gov ID
- NCT06985212
- Acronym / sponsor ID
- FASMD / 2024-A01376-41
- Keywords
- ASMD, ASMD Pick A/A-B/B, registry, database
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Wladimir MAUHIN, DrUniversity, hospital or other
- 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
- Study start
- 2 May 2025 (actual)
- Primary completion
- 15 Apr 2035 (estimated)
- Study completion
- 15 Apr 2035 (estimated)
- First posted
- 22 May 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 120 Months
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Experimental Cohort | – | –A cohort of 200 pediatric and adult participants, diagnosed of ASMD, as established by a confirmed low acid sphingomyelinase assay, and who have not given their opposition (patient and/or parent) to participate in this research. |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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).
Key exclusion criteria (3 listed)
- Inability to understand the information provided,
- Under guardianship, trusteeship or judicial protection,
- Under detention or deprived of liberty by judicial or administrative decision.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Natural history of ASMD (symptoms, complications)
Time frame: 120 months
Natural history of ASMD, assessed by describing the occurrence and progression of symptoms, organ involvement, disease-related complications, and clinical outcomes in paediatric and adult patients, according to treatment exposure (treated versus untreated). Quality of life will be evaluated using validated age-appropriate patient-reported outcome measures and summarized descriptively over the course of follow-up.
4 secondary outcomes
Distribution and characterization of disease phenotypes.
Time frame: 120 months
Longitudinal evaluation of currently available therapeutic treatment
Time frame: 120 months
Characterization of phenotypic forms identified among participants at the national level, in France.
Time frame: 120 months
Social impact of the disease
Time frame: 120 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Oct 2026.
- Individual participant dataSharing planned: Undecided. undefined
Related trials for Acid Sphingomyelinase Deficiency (ASMD)
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A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)
Niemann-Pick Diseases, Acid Sphingomyelinase Deficiency
RecruitingObservational study
GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
Gaucher Disease, Acid SphingoMyelinase Deficiency
Active, not recruitingObservational study
Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)
Acid Sphingomyelinase Deficiency (ASMD)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Wladimir Mauhin, MD PhD study director
Groupe Hospitalier Diaconesses Croix Saint-Simon
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Acid Sphingomyelinase Deficiency (ASMD) and Niemann Pick Disease, run by Wladimir MAUHIN, Dr at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Djazia BOUZELMAT, Clinical Research Assistant (0144643098, dbouzelmat@hopital-dcss.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Natural history of ASMD (symptoms, complications) (time frame: 120 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Oct 2026.