Recruiting NCT06036693
MPS (RaDiCo Cohort) (RaDiCo-MPS)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics
Overview
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.
Primary outcome measures
- Evaluation of the clinical data of MPS like growth for each system [Time frame: Through study completion, an average of 5 years]
- Evaluation of the clinical data of MPS like signs for each system [Time frame: Through study completion, an average of 5 years]
- Evaluation of the clinical data of MPS like symptoms for each system [Time frame: Through study completion, an average of 5 years]
- Evaluation of the clinical data of MPS like complications for each system [Time frame: Through study completion, an average of 5 years]
- Evaluation of the clinical data of MPS like psychomotor milestones [Time frame: Through study completion, an average of 5 years]
- Evaluation of the clinical data of MPS like cognitive evolution [Time frame: Through study completion, an average of 5 years]
- Evaluation of the clinical data of MPS like handicap using scales adapted to multivisceral disease for all types of MPS [Time frame: Through study completion, an average of 5 years]
- Evaluation of the clinical data of MPS like handicap using scales adapted to cognitive and neurologic disease for the types I, II, III VII [Time frame: Through study completion, an average of 5 years]
- Evaluation of the radiological data of MPS like standard bone radiographs [Time frame: Through study completion, an average of 5 years]
- Evaluation of the radiological data of MPS like abdominal echography [Time frame: Through study completion, an average of 5 years]
Secondary outcome measures (8)
- Description of the management of MPS diseases without specific treatment [Time frame: Through study completion, an average of 5 years]
- Description of the management of MPS diseases before specific treatment [Time frame: Through study completion, an average of 5 years]
- Description of the management of MPS diseases under specific treatment. [Time frame: Through study completion, an average of 5 years]
- Description of the outcome of MPS diseases without specific treatment [Time frame: Through study completion, an average of 5 years]
- Description of the outcome of MPS diseases before specific treatment [Time frame: Through study completion, an average of 5 years]
- Description of the outcome of MPS diseases under specific treatment. [Time frame: Through study completion, an average of 5 years]
- Identification of mutation(s) in each MPS type [Time frame: Through study completion, an average of 5 years]
- Establishment of genotype/phenotype relationships in each MPS type. [Time frame: Through study completion, an average of 5 years]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 23 centers
- Centre Hospitalier Universitaire d'Angers — Angers
- Hôpital des Enfants - Groupe Hospitalier Pellegrin — Bordeaux
- Hôpital Morvan — Brest
- Hôpital d'Estaing — Clermont-Ferrand
- Hôpital Beaujon — Clichy
- Hôpital Raymond-Poincaré — Garches
- Hôpital Jeanne de Flandre — Lille
- Hôpital de la Timone — Marseille
- … and 15 more centers
Identifiers
NCT: NCT06036693 · C16-53