MPS (RaDiCo Cohort) (RaDiCo-MPS)

Institut National de la Santé Et de la Recherche Médicale, France

Status: Enrolling

Conditions: Multiple Sulfatase Deficiency Disease; Mucopolysaccharidosis I; Mucopolysaccharidosis IV; Mucopolysaccharidosis III; Mucopolysaccharidosis VII; Mucopolysaccharidosis VI; Mucopolysaccharidosis II; Mucopolysaccharidosis IX

Study type: Observational

Funder types: Other

Identifiers

NCT06036693

C16-53

Details and patient eligibility

About

The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.

Enrollment: 1,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and 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.