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โ† Trials
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Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease

RecruitingNAAges 10 Years - 30 YearsAllAssistance Publique Hopitaux De Marseille
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In plain words

What the trial is, and whether it could suit you

This is a 2-year follow-up study of a cohort of 35 CMT1A patients and 20 healthy volunteers. The main objective is identifying prognostic markers for CMT1A using multi-omics analysis. The study is recruiting subjects between the ages of 10 and 30. The most common inherited neuropathy is Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of the gene expressing PMP22. CMT1A patients develop symptoms in early childhood with variable progression and there is no established therapy until now. Therapy must start in childhood, before peripheral nerves degenerate. However, we lack easily obtainable biomarkers in early disease stages. In CMT-MODs, we will identify disease and prognostic biomarkers in young CMT1A patients.

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๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * Healthy volunteer or patient who has given consent for participation in the study or, for minors, a healthy volunteer whose two parents have given consent for participation in the study. * Patient with genetically confirmed CMT1A or with a parent whose diagnosis is genetically confirmed * Patient able to walk with or without assistance Exclusion Criteria: * Healthy volunteer with neurological disorders * Healthy volunteer or patient with a contraindication to MRI, * Healthy volunteers or patient under 30 kg * Helathy volunteer on long-term therapy * Patient with other neuromuscular pathologies * Patient in a period of exclusion from another research protocol at the time of signing the consent/non-opposition form * Pregnant or breast-feeding women * Subjects covered by articles L1121-5 to 1121-8 of the French Public Health Code (minors, adults under guardianship or trusteeship, patients deprived of their liberty, pregnant or breast-feeding women) * Subjects who cannot read and understand the French language well enough to be able to give their consent to participate in research
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What it tests

  • Quantitative neuromuscular MRI
  • Skin biopsy
  • Clinical scores
  • Blood test
  • Patient Report Outcomes Measures
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Where

1 site
Assistance Publique - Hรดpitaux de Marseille
Marseille, France
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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