ClinicalTrials.gov record NCT06036693
MPS (RaDiCo Cohort) (RaDiCo-MPS)
Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational cohort builds a retrospective and prospective collection of detailed clinical and test data to characterize the epidemiology and natural history of mucopolysaccharidosis (MPS). It includes people diagnosed with any of the listed MPS types, both existing (prevalent) and newly diagnosed (incident) patients. Data collection and follow-up are intended through study completion (average about 5 years).
What it is studying. The study aims to describe how MPS conditions progress across organ systems, to record signs, symptoms, complications, imaging and electrophysiological findings, and to compile biochemical (including urinary GAG and enzyme activity) and molecular (genetic) data. It also records management and outcomes before, during, and without specific treatments, and seeks to identify mutations and genotype–phenotype relationships.
What the researchers hope to learn. To characterize the epidemiology and natural history of multiple types of MPS. To describe how MPS is managed and what outcomes occur without specific treatment, before treatment, and during specific treatment. To collect clinical, imaging, electrophysiological, biochemical and molecular data, identify mutations for each MPS type, and establish genotype–phenotype relationships.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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.
Study description and what participation involves
The registry record has no detailed description beyond the summary above.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
After consenting, participants allow the study team to collect past medical records and ongoing clinical data about their MPS and to follow them over time (retrospective and prospective data collection). The study records clinical assessments and symptoms, imaging (standard bone x‑rays, abdominal ultrasound, echocardiography, CT and/or MRI), electrophysiological tests (EMG, EEG, ERG), and biochemical and molecular data (urine GAG, enzyme activities, specific antibodies, genetic/molecular results). Follow-up and data collection are planned through study completion (an average of about 5 years); participants may provide routine blood and urine samples as part of these assessments. The registry record does not list a specific visit schedule, payments, or other participant services.
How the study is structured. An observational cohort study that collects past (retrospective) and ongoing (prospective) clinical records and test results from enrolled MPS patients. No treatments are assigned by the study. Data types include clinical assessments, imaging, electrophysiology, biochemical markers, and molecular (genetic) data; follow-up is planned through study completion (about 5 years on average).
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Hurler syndrome
This trial is also listed on this site under Hunter syndrome and Sanfilippo syndrome.
Important dates
- Study start
- Dec 20, 2017
- Primary completion
- December 2026 (estimated)
- Study completion
- December 2026 (estimated)
- Target enrollment
- 1000 participants (estimated)
- Last updated on registry
- Feb 11, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Bénédicte HERON 📞 01 44 73 65 75 ✉ benedicte.heron@aphp.fr
Participating sites (23)
- Centre Hospitalier Universitaire d'AngersRecruiting
Angers · France
- Magalie BARTH
- Hôpital des Enfants - Groupe Hospitalier PellegrinNot Yet Recruiting
Bordeaux · France
- Didier LACOMBE
- Hôpital MorvanRecruiting
Brest · France
- Elise SACAZE
- Hôpital d'EstaingNot Yet Recruiting
Clermont-Ferrand · France
- Marc BERGER
- Hôpital BeaujonRecruiting
Clichy · France
- Nadia BELMATOUG
- Hôpital Raymond-PoincaréNot Yet Recruiting
Garches · France
- Dominique-Paul GERMAIN
- Hôpital Jeanne de FlandreRecruiting
Lille · France
- Anne-Sophie GUEMANN
- Hôpital de la TimoneRecruiting
Marseille · France
- Brigitte CHABROL
- Hôpital Gui de ChauliacRecruiting
Montpellier · France
- Agathe ROUBERTIE
- Hôpital BraboisRecruiting
Nancy · France
- François FEILLET
Terms used on this page · explanations by MedicalUpdates.ai
- natural history
- A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- inclusion criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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