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NCT Number: NCT06036693

MPS (RaDiCo Cohort) (RaDiCo-MPS)

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.

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Key information

Conditions

Mucopolysaccharidosis I Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Intellectual Disability Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Mucinoses Mucopolysaccharidoses Mucopolysaccharidosis II Mucopolysaccharidosis III Mucopolysaccharidosis IV Mucopolysaccharidosis IX Mucopolysaccharidosis VI Mucopolysaccharidosis VII Multiple Sulfatase Deficiency Disease Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Nutritional and Metabolic Diseases Skin and Connective Tissue Diseases Sphingolipidoses Sulfatidosis X-Linked Intellectual Disability

Sex eligibility

All sexes

Study type

Observational

Primary location

Centre Hospitalier Universitaire d'Angers, Angers, France

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Evaluation of the clinical data of MPS like growth for each system

    Time frame: Through study completion, an average of 5 years

  2. Evaluation of the clinical data of MPS like signs for each system

    Time frame: Through study completion, an average of 5 years

  3. Evaluation of the clinical data of MPS like symptoms for each system

    Time frame: Through study completion, an average of 5 years

  4. Evaluation of the clinical data of MPS like complications for each system

    Time frame: Through study completion, an average of 5 years

  5. Evaluation of the clinical data of MPS like psychomotor milestones

    Time frame: Through study completion, an average of 5 years

  6. Evaluation of the clinical data of MPS like cognitive evolution

    Time frame: Through study completion, an average of 5 years

  7. 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

  8. 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

  9. Evaluation of the radiological data of MPS like standard bone radiographs

    Time frame: Through study completion, an average of 5 years

  10. Evaluation of the radiological data of MPS like abdominal echography

    Time frame: Through study completion, an average of 5 years

  11. Evaluation of the radiological data of MPS like echocardiography

    Time frame: Through study completion, an average of 5 years

  12. Evaluation of the radiological data of MPS like cerebral and medullar tomodensitometry

    Time frame: Through study completion, an average of 5 years

  13. Evaluation of the radiological data of MPS like magnetic resonance imaging

    Time frame: Through study completion, an average of 5 years

  14. Evaluation of the electrophysiological data of MPS like EMG

    Time frame: Through study completion, an average of 5 years

  15. Evaluation of the electrophysiological data of MPS like EEG

    Time frame: Through study completion, an average of 5 years

  16. Evaluation of the electrophysiological data of MPS like ERG

    Time frame: Through study completion, an average of 5 years

  17. Evaluation of the biochemical data of MPS like urinary GAG before specific treatment

    Time frame: Through study completion, an average of 5 years

  18. Evaluation of the biochemical data of MPS like urinary GAG during specific treatment

    Time frame: Through study completion, an average of 5 years

  19. Evaluation of the biochemical data of MPS like enzyme activities before specific treatment

    Time frame: Through study completion, an average of 5 years

  20. Evaluation of the biochemical data of MPS like enzyme activities during specific treatment

    Time frame: Through study completion, an average of 5 years

  21. Evaluation of the biochemical data of MPS like specific antibodies

    Time frame: Through study completion, an average of 5 years

  22. Evaluation of the molecular data of MPS

    Time frame: Through study completion, an average of 5 years

Secondary outcomes

  1. Description of the management of MPS diseases without specific treatment

    Time frame: Through study completion, an average of 5 years

  2. Description of the management of MPS diseases before specific treatment

    Time frame: Through study completion, an average of 5 years

  3. Description of the management of MPS diseases under specific treatment.

    Time frame: Through study completion, an average of 5 years

  4. Description of the outcome of MPS diseases without specific treatment

    Time frame: Through study completion, an average of 5 years

  5. Description of the outcome of MPS diseases before specific treatment

    Time frame: Through study completion, an average of 5 years

  6. Description of the outcome of MPS diseases under specific treatment.

    Time frame: Through study completion, an average of 5 years

  7. Identification of mutation(s) in each MPS type

    Time frame: Through study completion, an average of 5 years

  8. Establishment of genotype/phenotype relationships in each MPS type.

    Time frame: Through study completion, an average of 5 years

Study contacts

Contact information is provided by the study sponsor or research team.

Bénédicte HERON

CONTACT

[email protected]

01 44 73 65 75

Sponsors and collaborators

Lead sponsor

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

Other Gov

Registry information

Official study title

Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics

Important dates

Study start
2017
Primary completion
2026
Study completion
2026
First posted
Sep 14, 2023
Registry last updated
Feb 11, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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