MPS (RaDiCo Cohort) (RaDiCo-MPS)

Launched by INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE, FRANCE · Sep 12, 2023

Keywords

ClinConnect Summary

The RaDiCo-MPS trial is an observational study aimed at understanding the different types of Mucopolysaccharidosis (MPS) diseases, which are genetic disorders that affect how the body breaks down certain sugars. Researchers want to gather detailed information about the experiences and health of patients with MPS in France, both from the past and moving forward. This study is currently recruiting participants of all ages and genders who have a confirmed diagnosis of MPS, which means they have specific enzyme deficiencies and high levels of certain substances in their urine.

If you or a loved one has been diagnosed with MPS and decides to participate, you will be asked to provide your medical history and any relevant health information. This will help researchers learn more about how these diseases progress over time and how they affect patients' lives. It’s important to note that there are no specific exclusions for this study, so if you meet the criteria, you may be eligible to take part. Your involvement could contribute to better understanding and possibly improving the care for future patients with MPS.

Gender

ALL

Eligibility 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.