Observational study on Mucopolysaccharidosis diseases in France

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Centre Hospitalier Universitaire d'Angers
  Angers, France Recruiting
• Hôpital Morvan
  Brest, France Recruiting
• Hôpital Beaujon
  Clichy, France Recruiting
• Hôpital Jeanne de Flandre
  Lille, France Recruiting
• Hôpital de la Timone
  Marseille, France Recruiting
• Hôpital Gui de Chauliac
  Montpellier, France Recruiting

Study contacts

• Principal investigator: Thierry BILLETTE DE VILLEMEUR — Inserm Umr 1141
• Study coordinator: Bénédicte HERON
• Email: benedicte.heron@aphp.fr
• Phone: 01 44 73 65 75

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.