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Biomarkers and Validation of Selected Outcome Measures (CMTNSmod)

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ClinicalTrials.gov Identifier: NCT03386266
Recruitment Status : Active, not recruiting
First Posted : December 29, 2017
Last Update Posted : December 29, 2017
Sponsor:
Collaborators:
University Hospital Muenster
Ludwig-Maximilians - University of Munich
Information provided by (Responsible Party):
Michael W Sereda, MD, Professor of Neurology, University Medical Center Goettingen

Brief Summary:
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.

Condition or disease
Charcot-Marie-Tooth Disease, Type IA

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
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarkers and Validation of Selected Outcome Measures (CMTNSmod)
Actual Study Start Date : August 11, 2017
Estimated Primary Completion Date : January 31, 2019
Estimated Study Completion Date : September 30, 2019





Primary Outcome Measures :
  1. 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

  2. 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


Biospecimen Retention:   Samples With DNA
DNA and RNA from blood and skin


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Ages Eligible for Study:   3 Years to 65 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients suffering from CMT1A disease
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03386266


Locations
Germany
University Medical Center Goettingen
Goettigen, Lower Saxony, Germany, 37075
Sponsors and Collaborators
University Medical Center Goettingen
University Hospital Muenster
Ludwig-Maximilians - University of Munich
Investigators
Principal Investigator: Michael W. Sereda, MD, Professor of Neurology University Medical Center Goettingen

Publications of Results:
Other Publications:
Responsible Party: Michael W Sereda, MD, Professor of Neurology, University Medical Center Goettingen
ClinicalTrials.gov Identifier: NCT03386266     History of Changes
Other Study ID Numbers: 05171
First Posted: December 29, 2017    Key Record Dates
Last Update Posted: December 29, 2017
Last Verified: December 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Michael W Sereda, MD, Professor of Neurology, University Medical Center Goettingen:
Biomarkers
CMT1A
Charcot-Marie-Tooth disease

Additional relevant MeSH terms:
Tooth Diseases
Charcot-Marie-Tooth Disease
Nerve Compression Syndromes
Hereditary Sensory and Motor Neuropathy
Stomatognathic Diseases
Nervous System Malformations
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Polyneuropathies
Peripheral Nervous System Diseases
Neuromuscular Diseases
Congenital Abnormalities
Genetic Diseases, Inborn