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| ID | Type | Description | Link |
|---|---|---|---|
| 2024-A02403-44 | Other Identifier | ID RCB |
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| Name | Class |
|---|---|
| Association Française contre les Myopathies (AFM), Paris | OTHER |
| University Medical Center Göttingen | UNKNOWN |
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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.
The CMT-MODs project aims to conduct a multi-omics analysis (transcriptomics, proteomics, lipidomics) in young patients with early-stage CMT1A. This evaluation should enable the identification of prognostic and change-sensitive biomarkers for use in clinical trials.
A large cohort of CMT1A children, adolescents and young adults aged 10-30 years over 12 months applying the novel clinical outcome measures CMT Examination Score/CMT Neuropathy Score Version Version 2 Rasch versions (CMTES-R/CMTNSv2-R), the functional outcome measure CMT-FOM, pCMT-Qol, as well as a nerve conduction study (NCS) and quantitative MRI will be assessed.
Blood (and optional skin) samples will be taken and gene expression of the most promising candidates will be identified.
This assessment of CMT patients at early disease stages will allow CMT-MODs to establish biomarkers that may serve as a standard readout for disease severity and predict the disease course.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Charcot-Marie-Tooth Neuropathy 1A | Other | Patient with genetically confirmed CMT1A or with a parent whose diagnosis is genetically confirmed, |
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| Healthy volunteers | Other | Patient-matched controls |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Quantitative neuromuscular MRI | Other | Quantification of biomarkers as fat fraction, magnetization Transfer Ratio, muscular volume, relaxation time T2 |
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| Measure | Description | Time Frame |
|---|---|---|
| Transcriptomic analysis | RNA seq on blood and skin tissues | Between inclusion (month 0) and one year later (month 12) |
| Proteomic analysis | Label-free quantitative approach on blood and skin tissues | Between inclusion (month 0) and one year later (month 12) |
| Measure | Description | Time Frame |
|---|---|---|
| MRI muscle biomarkers : Fat Fraction measure | Between inclusion (month 0) and one year later (month12) | |
| MRI muscle biomarkers : Magnetization Transfer Ratio | Between inclusion (month 0) and one year later (month12) |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Shahram ATTARIAN, PU-PH | Contact | 04 91 38 65 79 | +33 | shahram.attarian@ap-hm.fr |
| Etienne FORTANIER, MD | Contact | 04 91 38 65 79 | +33 | etienne.fortanier@ap-hm.fr |
| Name | Affiliation | Role |
|---|---|---|
| François CREMIEUX | Assistance Publique - Hôpitaux de Marseille | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Assistance Publique - Hôpitaux de Marseille | Recruiting | Marseille | 13005 | France |
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| ID | Term |
|---|---|
| D002607 | Charcot-Marie-Tooth Disease |
| ID | Term |
|---|---|
| D015417 | Hereditary Sensory and Motor Neuropathy |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
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| ID | Term |
|---|---|
| D006403 | Hematologic Tests |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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Comparison of patient and healthy volunteers data at inclusion (M0) and 12 months (M12)
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| Skin biopsy | Other | Performed on the arm or index finger, depending on patient age |
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| Clinical scores | Other | ONLS, CMTES-R, CMT-Peds, CMT-FOM |
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| Blood test | Other | 10 ml sample |
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| Patient Report Outcomes Measures | Other | pCMT-QoL, EVA, WALK-12, PGI-c, SF-12 |
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| MRI muscle biomarkers : T2 relaxation time | Between inclusion (month 0) and one year later (month12) |
| MRI muscle biomarkers : muscle volume | Between inclusion (month 0) and one year later (month12) |
| Clinical score : ONLS | Overall Neuropathy Limitations Scale | Between inclusion (month 0) and one year later (month12) |
| Clinical score : CMTES-R | CMT Examination Score | Between inclusion (month 0) and one year later (month12) |
| Clinical score : CMT-FOM | The CMT-Functional Outcome Measure | Between inclusion (month 0) and one year later (month12) |
| Clinical score : CMT-Peds | Charcot-Marie-Tooth Disease Pediatric Scale | Between inclusion (month 0) and one year later (month 12) |
| PROM (Patient Reported Outcomes Measures) : pCMT-QoL | Pediatrics CMT Questionnaire of Life | Between inclusion (month 0), month 6, and one year later (month12) |
| PROM (Patient Reported Outcomes Measures) : VAS | Visual Analog Scale | Between inclusion (month 0), month 6, and one year later (month 12) |
| PROM (Patient Reported Outcomes Measures) : WALK-12 | Between inclusion (month 0), month 6, and one year later (month 12) |
| PROM (Patient Reported Outcomes Measures) : PGI-c | Patient's Global Impression of change scale | Between inclusion (month), month 6, and one year later (month 12) |
| PROM (Patient Reported Outcomes Measures) : SF-12 | Between inclusion (month 0), month 6, and one year later (month12) |
| D019636 | Neurodegenerative Diseases |
| D011115 | Polyneuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |