FASMD
Study of the Natural History of Acid Sphingomyelinase Deficiency (ASMD): National, Multicenter Cohort of Adult and Pediatric Patients _FASMD (French Prospective Cohort ASMD)
Sponsor study identifier
observational
200
1 country
1
Study Start
May 2, 2025
Actual (reported)Primary Completion
April 15, 2035
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
April 15, 2035
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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).
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
April 15, 2035
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
March 18, 2025
Actual (reported)May 2, 2025
Actual (reported)May 22, 2025
Actual (reported)April 15, 2035
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
April 15, 2035
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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.
120 months
Distribution and characterization of disease phenotypes.
120 months
Longitudinal evaluation of currently available therapeutic treatment
120 months
Characterization of phenotypic forms identified among participants at the national level, in France.
120 months
Social impact of the disease
120 months
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.
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.
Groupe Hospitalier Diaconesses Croix Saint-Simon
Paris, France, 75020, France
Wladimir Mauhin, MD PhD
Groupe Hospitalier Diaconesses Croix Saint-Simon
First Submitted
March 18, 2025
First Posted
May 22, 2025
Study Start
May 2, 2025
Actual (reported)Primary Completion
April 15, 2035
EstimatedContact the study team to confirm eligibility.
Planned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
April 15, 2035
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
October 15, 2026
Record last verified: 2026-10
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Source: ClinicalTrials.gov.
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