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CompletedNCT03386266Updated May 6, 2026

Biomarkers and Validation of Selected Outcome Measures (CMTBiomarker)

An observational study in Charcot-Marie-Tooth Disease, Type IA, sponsored by University Medical Center Goettingen. Completed at 1 site in Germany. Open to participants aged 3 Years to 65 Years. Per ClinicalTrials.gov, last updated 2026-05-06.

Sponsored by University Medical Center Goettingen · Observational

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Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
156
Ages
3 Years to 65 Years
Sex
All
01

Study 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.

Read the 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.

02

Conditions studied

  • Charcot-Marie-Tooth Disease, Type IA

Keywords

  • Biomarkers
  • CMT1A
  • Charcot-Marie-Tooth disease
03

In context

Charcot-Marie-Tooth Disease

113 studies on the registry are indexed under Charcot-Marie-Tooth Disease; 37 are open to participants now.

This study's enrollment of 156 is above the median of 120 across 47 observational studies indexed under Charcot-Marie-Tooth Disease.

Browse Charcot-Marie-Tooth Disease studies →

Lead sponsor

University Medical Center Goettingen is the lead sponsor of 62 studies on the registry; 26 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
3 Years to 65 Years
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Patients suffering from CMT1A disease

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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

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
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
156 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  1. mRNA Expression Levels in blood samples from CMT1A patients

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

    Time frame: 3 years

  2. mRNA Expression Levels in Skin biopsies from CMT1A patients

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

    Time frame: 3 years

07

Study locations

1 site
  • University Medical Center Goettingen
    Goettigen, Lower Saxony 37075, Germany
08

References and documents

Publications

  • Mannil M, Solari A, Leha A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Walter MC, Rautenstrauss B, Schnizer TJ, Schenone A, Seeman P, Kadian C, Schreiber O, Angarita NG, Fabrizi GM, Gemignani F, Padua L, Santoro L, Quattrone A, Vita G, Calabrese D; CMT-TRIAAL/CMT-TRAUK Group; Young P, Laura M, Haberlova J, Mazanec R, Paulus W, Beissbarth T, Shy ME, Reilly MM, Pareyson D, Sereda MW. Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients. Neuromuscul Disord. 2014 Nov;24(11):1003-17. doi: 10.1016/j.nmd.2014.06.431. Epub 2014 Jun 19. PubMed 25085517 ↗
  • Fledrich R, Schlotter-Weigel B, Schnizer TJ, Wichert SP, Stassart RM, Meyer zu Horste G, Klink A, Weiss BG, Haag U, Walter MC, Rautenstrauss B, Paulus W, Rossner MJ, Sereda MW. A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients. Brain. 2012 Jan;135(Pt 1):72-87. doi: 10.1093/brain/awr322. Epub 2011 Dec 20. PubMed 22189569 ↗
  • Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlova J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW. Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A. J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952. doi: 10.1136/jnnp-2017-315721. Epub 2017 Aug 31. PubMed 28860329 ↗

Individual participant data

Plan to share: No

09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Ran from Aug 2017 to primary completion in Sep 2019, 25 months.

How these figures are worked out, and which studies are left out of them.

Registered
Dec 13, 2017
First posted
Dec 29, 2017
StartActual
Aug 11, 2017
Primary completionActual
Sep 30, 2019
CompletionActual
Sep 30, 2019
Last update
May 6, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on May 6, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT03386266
Lead sponsor
University Medical Center Goettingen
Collaborators
University Hospital Muenster, Ludwig-Maximilians - University of Munich
Responsible party
Michael W Sereda, MD, Professor of Neurology (Michael W Sereda, MD, Professor of Neurology, University Medical Center Goettingen) — Principal investigator
First posted
Dec 29, 2017
Start date
Aug 11, 2017
Primary completion
Sep 30, 2019
Completion
Sep 30, 2019
Last update
May 6, 2026

Study contacts

Michael W. Sereda, MD, Professor of Neurology
principal investigator · University Medical Center Goettingen

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Nov 2020. You cannot join it, but the record below documents what was studied.

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