Longitudinal Biomarkers With Selected Outcome Measures In CMT

NCT06794489 | Recruiting

• 1 other identifier: 17/5/24
• Study Type: observational
• Target: 75
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

CMT (Charcot Marie Tooth Disease); CMT 1A; CMT - Charcot-Marie-Tooth Disease; CMT1A

Keywords

biomarkers; outcome measures

Outcome Measures

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.

  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 (10)

• ONLS

  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).

• SF-36

  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).

• FSS

  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).

• PSQI

  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).

• ESS

  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).

Study Arms (2)

CMT patients

Controls

Healthy age-matched controls

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Participants from the Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) study (ClinicalTrials.gov ID NCT03386266)

You may qualify if:

• 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
• Capacity of all study participants to consent and signed informed consent, including patient or participant information and consent form

You may not qualify if:

• Pregnancy or breastfeeding period
• Other relevant neurological or psychiatric disorders, acute or in the past history
• Presence of a serious previous internal disease

Sponsors & Collaborators

• University Medical Center Goettingen: lead

Study Sites (1)

University Medical Centre

Göttingen, Lower Saxony, 37075, Germany

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood and optional skin biopsies

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Central Study Contacts

Michael W Sereda, Prof. MD

CONTACT

+49 551 3964162; sereda@mpinat.mpg.de

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Michael Sereda MD

Study Record Dates

• First Submitted: January 20, 2025
• First Posted: January 27, 2025
• Study Start: November 6, 2024
• Primary Completion (Estimated): July 5, 2026
• Study Completion (Estimated): July 5, 2026
• Last Updated: March 9, 2026

Record last verified: 2026-03

Locations

DE (1)