Biomarkers and Validation of Selected Outcome Measures (CMTNSmod)

November 4, 2020 updated by: Michael W Sereda, MD, Professor of Neurology, University Medical Center Goettingen
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.

Study Overview

Status

Completed

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Actual)

156

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Germany
    • Lower Saxony
      • Goettigen, Lower Saxony, Germany, 37075
        • University Medical Center Goettingen

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years to 65 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients suffering from CMT1A disease

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
3 years
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
3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Medical Center Goettingen

Collaborators

University Hospital Muenster
Ludwig-Maximilians - University of Munich

Investigators

  • Principal Investigator: Michael W. Sereda, MD, Professor of Neurology, University Medical Center Goettingen

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 11, 2017

Primary Completion (Actual)

September 30, 2019

Study Completion (Actual)

September 30, 2019

Study Registration Dates

First Submitted

December 13, 2017

First Submitted That Met QC Criteria

December 20, 2017

First Posted (Actual)

December 29, 2017

Study Record Updates

Last Update Posted (Actual)

November 5, 2020

Last Update Submitted That Met QC Criteria

November 4, 2020

Last Verified

November 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 05171

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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