NCT06985212

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).

Trial Health

63
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
109mo left

Started May 2025

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
not yet recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress10%
May 2025Apr 2035

First Submitted

Initial submission to the registry

March 18, 2025

Completed
2 months until next milestone

Study Start

First participant enrolled

May 15, 2025

Completed
7 days until next milestone

First Posted

Study publicly available on registry

May 22, 2025

Completed
9.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 15, 2035

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

April 15, 2035

Last Updated

May 22, 2025

Status Verified

March 1, 2025

Enrollment Period

9.9 years

First QC Date

March 18, 2025

Last Update Submit

May 14, 2025

Conditions

Acid Sphingomyelinase Deficiency (ASMD)Niemann Pick Disease

Keywords

ASMDASMD Pick A/A-B/Bregistrydatabase

Outcome Measures

Primary Outcomes (1)

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

    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.

    120 months

Secondary Outcomes (1)

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

    120 months

Study Arms (1)

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.

Eligibility Criteria

Age2 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may qualify if:

  • 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).

You may not qualify if:

  • Inability to understand the information provided,
  • Under guardianship, trusteeship or judicial protection,
  • Under detention or deprived of liberty by judicial or administrative decision.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Groupe Hospitalier Diaconesses Croix Saint-Simon

Paris, France, 75020, France

Location

MeSH Terms

Conditions

Niemann-Pick Diseases

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesHistiocytosis, Non-Langerhans-CellHistiocytosisLymphatic DiseasesHemic and Lymphatic DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism Disorders

Study Officials

  • Wladimir Mauhin, MD PhD

    Groupe Hospitalier Diaconesses Croix Saint-Simon

    STUDY DIRECTOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
120 Months
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

March 18, 2025

First Posted

May 22, 2025

Study Start

May 15, 2025

Primary Completion (Estimated)

April 15, 2035

Study Completion (Estimated)

April 15, 2035

Last Updated

May 22, 2025

Record last verified: 2025-03

Locations

FR(1)