Mucopolysaccharidosis INCT06036693
MPS (RaDiCo Cohort) (RaDiCo-MPS)
An observational study of Mucopolysaccharidosis I and Mucopolysaccharidosis II, run by Institut National de la Santé Et de la Recherche Médicale, France at 23 sites in France.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III
- How many people
- 1,000 participants
- Where
- 23 sitesFrance
- Study dates
- 20 Dec 2017to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Prevalent and incident patients will be included in the cohort RaDiCo-MPS.
Who may be able to join
- 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.
Who cannot join
None listed.
Trial locations and contacts
23 sites in 1 country. Contact the study team or a site near you to ask about taking part.
23 sites in 1 country
France23 sites, 23 recruiting
- Recruiting
Centre Hospitalier Universitaire d'Angers
Angers
Magalie BARTH
- Not yet recruiting
Hôpital des Enfants - Groupe Hospitalier Pellegrin
Bordeaux
Didier LACOMBE
- Recruiting
Hôpital Morvan
Brest
Elise SACAZE
- Not yet recruiting
Hôpital d'Estaing
Clermont-Ferrand
Marc BERGER
- Recruiting
Hôpital Beaujon
Clichy
Nadia BELMATOUG
- Not yet recruiting
Hôpital Raymond-Poincaré
Garches
Dominique-Paul GERMAIN
- Recruiting
Hôpital Jeanne de Flandre
Lille
Anne-Sophie GUEMANN
- Recruiting
Hôpital de la Timone
Marseille
Brigitte CHABROL
- Recruiting
Hôpital Gui de Chauliac
Montpellier
Agathe ROUBERTIE
- Recruiting
Hôpital Brabois
Nancy
François FEILLET
- Recruiting
Hôpital Armand Trousseau
Paris
Bénédicte HERON
- Not yet recruiting
Hôpital de la Croix Saint-Simon
Paris
Wladimir MAUHIN
- Recruiting
Hôpital de la Pitié-Salpêtrière
Paris
Yann NADJAR
- Recruiting
Hôpital Necker-Enfants Malades
Paris
Anaïs BRASSIER
- Recruiting
Hôpital Robert Debré
Paris
Samia PICHARD
- Recruiting
Centre Hospitalier de Pau
Pau
Pierre BEZE-BEYRIE
- Not yet recruiting
American Memorial Hospital
Reims
Nathalie BEDNAREK
- Recruiting
Hôpital Pontchaillou
Rennes
Bérengère CADOR
- Not yet recruiting
Hôpital Charles Nicolle
Rouen
Stéphanie TORRE
- Not yet recruiting
Hôpital de Hautepierre
Strasbourg
Marie-Thérèse ABI WARDE
- Not yet recruiting
Clinique Monié
Toulouse
Francis GACHES
- Not yet recruiting
Hôpital des Enfants
Toulouse
Guy TOUATI
- Recruiting
Hôpital Clocheville
Tours
Marine TARDIEU
About this study
Official title: Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics
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.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII
- Medical subject headings
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Multiple Sulfatase Deficiency Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluation of the clinical data of MPS like growth for each system
Measured: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like signs for each system
Measured: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like symptoms for each system
Measured: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like complications for each system
Measured: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like psychomotor milestones
Measured: Through study completion, an average of 5 years
Evaluation of the clinical data of MPS like cognitive evolution
Measured: 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
Measured: 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
Measured: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like standard bone radiographs
Measured: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like abdominal echography
Measured: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like echocardiography
Measured: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like cerebral and medullar tomodensitometry
Measured: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like magnetic resonance imaging
Measured: Through study completion, an average of 5 years
Evaluation of the electrophysiological data of MPS like EMG
Measured: Through study completion, an average of 5 years
Evaluation of the electrophysiological data of MPS like EEG
Measured: Through study completion, an average of 5 years
Evaluation of the electrophysiological data of MPS like ERG
Measured: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like urinary GAG before specific treatment
Measured: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like urinary GAG during specific treatment
Measured: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like enzyme activities before specific treatment
Measured: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like enzyme activities during specific treatment
Measured: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like specific antibodies
Measured: Through study completion, an average of 5 years
Evaluation of the molecular data of MPS
Measured: Through study completion, an average of 5 years
Secondary outcomes (8)
Description of the management of MPS diseases without specific treatment
Measured: Through study completion, an average of 5 years
Description of the management of MPS diseases before specific treatment
Measured: Through study completion, an average of 5 years
Description of the management of MPS diseases under specific treatment.
Measured: Through study completion, an average of 5 years
Description of the outcome of MPS diseases without specific treatment
Measured: Through study completion, an average of 5 years
Description of the outcome of MPS diseases before specific treatment
Measured: Through study completion, an average of 5 years
Description of the outcome of MPS diseases under specific treatment.
Measured: Through study completion, an average of 5 years
Identification of mutation(s) in each MPS type
Measured: Through study completion, an average of 5 years
Establishment of genotype/phenotype relationships in each MPS type.
Measured: Through study completion, an average of 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Sep 2023
- Study start20 Dec 2017
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mucopolysaccharidosis IStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Thierry BILLETTE DE VILLEMEUR, Principal investigator, INSERM UMR 1141
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06036693
- Sponsor's protocol ID
- C16-53
- Status last verified
- Feb 2026
- First submitted
- 18 Jul 2023
- Last updated
- 11 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics
- ClinicalTrials.gov ID
- NCT06036693
- Acronym / sponsor ID
- C16-53
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 20 Dec 2017 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 14 Sep 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Prevalent and incident patients will be included in the cohort RaDiCo-MPS.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Evaluation of the radiological data of MPS like echocardiography
Time frame: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like cerebral and medullar tomodensitometry
Time frame: Through study completion, an average of 5 years
Evaluation of the radiological data of MPS like magnetic resonance imaging
Time frame: Through study completion, an average of 5 years
Evaluation of the electrophysiological data of MPS like EMG
Time frame: Through study completion, an average of 5 years
Evaluation of the electrophysiological data of MPS like EEG
Time frame: Through study completion, an average of 5 years
Evaluation of the electrophysiological data of MPS like ERG
Time frame: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like urinary GAG before specific treatment
Time frame: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like urinary GAG during specific treatment
Time frame: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like enzyme activities before specific treatment
Time frame: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like enzyme activities during specific treatment
Time frame: Through study completion, an average of 5 years
Evaluation of the biochemical data of MPS like specific antibodies
Time frame: Through study completion, an average of 5 years
Evaluation of the molecular data of MPS
Time frame: Through study completion, an average of 5 years
8 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Feb 2026.
Related trials for Mucopolysaccharidosis I
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Mucopolysaccharidosis III-B
RecruitingPhase 2/3
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
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RecruitingPhase 1/2
A Phase I/II Trial of JR-446 in Mucopolysaccharidosis Type IIIB (MPS IIIB)
Mucopolysaccharidosis IIIB
Not yet recruitingPhase 1/2
Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB
Sanfilippo Syndrome (MPS III)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Thierry BILLETTE DE VILLEMEUR principal investigator
INSERM UMR 1141
23 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mucopolysaccharidosis I and Mucopolysaccharidosis II, run by Institut National de la Santé Et de la Recherche Médicale, France at 23 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 11 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 23 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Bénédicte HERON (01 44 73 65 75, benedicte.heron@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluation of the clinical data of MPS like growth for each system (time frame: Through study completion, an average of 5 years). The study lists 22 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Feb 2026.