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Observational study on Mucopolysaccharidosis diseases in France

Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics

Observational Institut National de la Santé Et de la Recherche Médicale, France · NCT06036693

This study is trying to learn more about Mucopolysaccharidosis diseases by collecting information from patients in France to understand how these rare conditions affect their lives.

Quick facts

Study typeObservational
Enrollment1000 (estimated)
SexAll
SponsorInstitut National de la Santé Et de la Recherche Médicale, France Government
Locations23 sites (Angers and 22 other locations)
Trial IDNCT06036693 on ClinicalTrials.gov

What this trial studies

This observational study aims to characterize the epidemiology and natural history of various Mucopolysaccharidosis (MPS) diseases by collecting extensive phenotypic data from patients in France. It will include both retrospective and prospective data collection to better understand the conditions. The study focuses on patients with confirmed diagnoses of MPS based on enzyme deficiencies and genetic mutations. By gathering this data, the study seeks to provide insights into the progression and impact of these rare diseases.

Who should consider this trial

Good fit: Ideal candidates for this study are individuals with a confirmed diagnosis of any type of Mucopolysaccharidosis.

Not a fit: Patients without a confirmed diagnosis of MPS or those who do not meet the inclusion criteria will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance understanding of MPS diseases, leading to improved patient management and treatment strategies.

How similar studies have performed: While this study is observational and focuses on data collection, similar studies have successfully characterized other rare diseases, suggesting potential for valuable insights.

Eligibility criteria

Show full inclusion / exclusion criteria 
Inclusion Criteria:

* Confirmed diagnosis of MPS based on clinically relevant enzyme deficiency, with abnormally elevated GAG urinary excretion and/or identification of pathogenic mutations.
* Signed informed consent or parents/guardian non-opposition for deceased patients (minor or protected major)

There are no non-inclusion criteria.

Where this trial is running

Angers and 22 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Mucopolysaccharidosis IMucopolysaccharidosis IIMucopolysaccharidosis IIIMucopolysaccharidosis IVMucopolysaccharidosis VIMucopolysaccharidosis VIIMucopolysaccharidosis IXMultiple Sulfatase Deficiency Disease
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.