Longitudinal Biomarkers With Selected Outcome Measures In CMT
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18-65
SponsorUniversity Medical Center Goettingen
About this trial
The goal of this study is to better understand the progression of CMT1A and identify risk factors influencing disease course. CMT1A, the most common hereditary peripheral neuropathy, shows high variability in individual phenotypes despite genetic similarity. Key objectives include analyzing determinants of phenotypic expression and documenting symptom variability over five years to capture disease dynamics.
Although incurable, novel CMT therapies are in development. Proving efficacy is challenging due to slow progression and limited sensitive outcome measures. This study aims to validate biomarkers (DNA/epigenetics and RNA/RT-PCR) and sensitive outcome measures from blood and skin of CMT patients over five years to support clinical therapy trials. Approximately 25 healthy volunteers will serve as controls, providing blood and skin samples for biomarker validation.
Additionally, the project will build a tissue collection (skin, blood, and cultured fibroblasts) from CMT patients of various subtypes for unrestricted scientific research, especially for the German CMT-NET network (NCT03386266). Scientific partners have free access to samples and data for research (commercial use is excluded). Currently, this collection includes over 100 standardized skin biopsies from CMT1A patients and is Germany's only repository for hereditary neuropathy tissue samples.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Clinical CMT Diagnosis / Anamnestically Healthy Control Group
Genetic confirmation of CMT in adult patients
Ability to achieve the outcome measure at baseline
Age between 18 and 65 years
Disqualifiers
Pregnancy or breastfeeding period
Other relevant neurological or psychiatric disorders, acute or in the past history
Presence of a serious previous internal disease
Trial population
Participants from the Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) study (ClinicalTrials.gov ID NCT03386266)
Trial design
Design model
Other
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
75 Participants
are grouped into 2 trial groupsGroup A: CMT patients
Group B: Controls
Trial outcomes
Primary outcomes
1
CMTNSv2, CMTNsv2-R
CMTNSv2 A validated composite scale that considers sensory and motor symptoms of both upper and lower extremities, as well as the ulnar nerve compound muscle action potential (CMAP) and sensory action potential (SAP) amplitudes. Version 2 of the CMT-NS has been newly designed to address various limitations of the original CMT-NS. CMTNSv2-R (Rasch) A modified version of CMTNSv2 using Rasch analysis to transform data into a linear measurement scale. This enables more accurate and precise quantification of functional limitations in CMT patients compared to the traditional CMTS.
Time frame
Change from baseline at the first timepoint of the CMT-NET biomarker study (NCT03386266) 2016/2019 to the end of the current study 2024/2025 (in total 8-9 years).Secondary outcomes
1
ONLS
The Overall Neuropathy Limitations Scale (ONLS) is an assessment scale designed to capture functional limitations and disabilities in patients with neuropathy. ONLS focuses on evaluating motor function, mobility, and the impact of neuropathy on patients' daily activities.
Time frame
Change from baseline at the first timepoint of the CMT-NET biomarker study (NCT03386266) 2016/2019 to the end of the current study 2024/2025 (in total 8-9 years).2
SF-36
SF-36 (Short form-36) The SF-36 consists of 36 questions that inquire about the patient's overall health status and is validated in the German version.
Time frame
Change from baseline at the first timepoint of the CMT-NET biomarker study (NCT03386266) 2016/2019 to the end of the current study 2024/2025 (in total 8-9 years).3
FSS
Fatigue in adults is measured by the Fatigue Severity Scale (FSS).
Time frame
Change from baseline at the first timepoint of the CMT-NET biomarker study (NCT03386266) 2016/2019 to the end of the current study 2024/2025 (in total 8-9 years).4
PSQI
Sleep quality is assessed using the PSQI
Time frame
Change from baseline at the first timepoint of the CMT-NET biomarker study (NCT03386266) 2016/2019 to the end of the current study 2024/2025 (in total 8-9 years).Sponsors and contacts
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Source ClinicalTrials.gov