Biomarkers and Validation of Selected Outcome Measures (CMTBiomarker)

CMT is a rare disease for which novel treatments are being developed. Evaluation of intervention efficacy is hampered by slow progression and lack of sensitive outcome measures. Primary goal of the project is to identify and validate RNA and protein derived biomarkers in blood of CMT patients for selected outcome measures over 2 years. The investigators expect to develop more responsive outcome measures and circulating biomarkers to improve assessment of intervention efficacy in forthcoming therapeutic trials.

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Key information

Conditions

Charcot-Marie-Tooth Disease, Type IA Charcot-Marie-Tooth Disease Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Heredodegenerative Disorders, Nervous System Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies

Age range

3 year–65 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University Medical Center Goettingen

Goettigen, Lower Saxony, 37075, Germany

About this study

Novel treatments are being developed for CMT. Intervention efficacy evaluation is hampered by slow disease progression and lack of sensitive outcome measures. The investigators have previously shown that biomarkers from skin identified in a CMT1A rat model can be translated to CMT1A patients. Primary goal is to identify circulating biomarkers correlating with disease severity and progression. 210 young, adolescent and adult patients affected by genetically confirmed CMT1A, will be evaluated with different clinical outcome measures, assessing impairment, disability and quality of life: Patients will be re-evaluated at 12 (n=147) and 24 months (n=103) with the same measures to assess disease progression. A number of candidate markers correlating with disease severity have been identified in blood samples from the rat model of CMT1A. At 0-12-24 months a blood sample will be drawn from affected CMT1A patients. The investigators will purify total mRNA from blood samples, and validate the 10 strongest regulated markers identified in the rat model via qRTPCR in blood of CMT1A patients. Protein biomarkers will also be analysed. Marker expression at baseline and at follow up will be correlated with clinical severity and progression. In this translational project (rat/human) the investogators expect to develop more responsive outcome measures and circulating biomarkers to improve assessment of intervention efficacy in forthcoming therapeutic trials.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

Clinical diagnosis of CMT1A
Genetic confirmation of PMP22 duplication (for adults patients)
Children aged 3-11, adolescents aged 12-17 and adults aged 18-65 years
Signed informed patient consent

Exclusion criteria

Other causes of neurological and psychiatric disorders
Severe internistic disease
Patient known or suspected to be alcohol / drug abuser
Pregnancy, breast feeding period
Permanent Vitamin C intake
Participation an interventional clinical study up to 4 weeks prior to inclusion

Treatment and study plan

Primary outcomes

mRNA Expression Levels in blood samples from CMT1A patients

Time frame: 3 years

Validation of key candidate genes (GSST2, FN3KRP, CTSA, SPRR1A) fro former studies
mRNA Expression Levels in Skin biopsies from CMT1A patients

Time frame: 3 years

Validation of key candidate genes (GSST2, FN3KRP, CTSA, SPRR1A) fro former studies

Sponsors and collaborators

Lead sponsor

University Medical Center Goettingen

Other

Collaborators

Ludwig-Maximilians - University of Munich
University Hospital Muenster

Registry information

Important dates

Study start: 2017
Primary completion: 2019
Study completion: 2019
First posted: Dec 29, 2017
Registry last updated: May 6, 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.

Published trials that share one or more normalized conditions with this study.

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