Health TrialsbyHealthPanel

Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease

ConditionCharcot-Marie-Tooth Disease Type 1A
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age10-30
SponsorAssistance Publique Hopitaux De Marseille

About this trial

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.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

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

Disqualifiers

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

Trial design

Design model

Parallel

Treatments tested in this trial

  • Quantitative neuromuscular MRI

    Other intervention

    Quantification of biomarkers as fat fraction, magnetization Transfer Ratio, muscular volume, relaxation time T2

  • Skin biopsy

    Other intervention

    Performed on the arm or index finger, depending on patient age

  • Clinical scores

    Other intervention

    ONLS, CMTES-R, CMT-Peds, CMT-FOM

  • Blood test

    Other intervention

    10 ml sample

  • Patient Report Outcomes Measures

    Other intervention

    pCMT-QoL, EVA, WALK-12, PGI-c, SF-12

Treatment groups

55 Participants
are divided into 2 treatment groups
Group A: Charcot-Marie-Tooth Neuropathy 1AOther 5 interventions
Group B: Healthy volunteersOther 4 interventions

Trial outcomes

Primary outcomes

1

Transcriptomic analysis

RNA seq on blood and skin tissues

Time frame
Between inclusion (month 0) and one year later (month 12)
2

Proteomic analysis

Label-free quantitative approach on blood and skin tissues

Time frame
Between inclusion (month 0) and one year later (month 12)

Secondary outcomes

1

MRI muscle biomarkers : Fat Fraction measure

Time frame
Between inclusion (month 0) and one year later (month12)
2

MRI muscle biomarkers : Magnetization Transfer Ratio

Time frame
Between inclusion (month 0) and one year later (month12)
3

MRI muscle biomarkers : T2 relaxation time

Time frame
Between inclusion (month 0) and one year later (month12)
4

MRI muscle biomarkers : muscle volume

Time frame
Between inclusion (month 0) and one year later (month12)

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Assistance Publique Hopitaux De Marseille

Lead sponsor

Association Française contre les Myopathies (AFM), Paris

Collaborator

University Medical Center Göttingen

Collaborator

Source ClinicalTrials.gov
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