Charcot-Marie-Tooth Disease, Type IANCT03386266
Biomarkers and Validation of Selected Outcome Measures (CMTBiomarker)
An observational study of Charcot-Marie-Tooth Disease, Type IA, run by University Medical Center Goettingen at 1 site in Germany.
Trial 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… Read more about this study
- Who is it for?
- Ages 3 to 65 years
- Conditions the study is for
- Charcot-Marie-Tooth Disease, Type IA
- How many people
- 156 participants
- Where
- 1 siteGermany
- Study dates
- 11 Aug 2017to 30 Sep 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 65 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients suffering from CMT1A disease
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
Germany1 site
University Medical Center Goettingen
Goettigen, Lower Saxony, 37075
About this study
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.
- Conditions
- Charcot-Marie-Tooth Disease, Type IA
- Keywords
- Biomarkers, CMT1A, Charcot-Marie-Tooth disease
- Medical subject headings
- Charcot-Marie-Tooth Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
mRNA Expression Levels in blood samples from CMT1A patients
Validation of key candidate genes (GSST2, FN3KRP, CTSA, SPRR1A) fro former studies
Measured: 3 years
mRNA Expression Levels in Skin biopsies from CMT1A patients
Validation of key candidate genes (GSST2, FN3KRP, CTSA, SPRR1A) fro former studies
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Dec 2017
- Study start11 Aug 2017
- Primary completion30 Sep 2019
- Study completion30 Sep 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Charcot-Marie-Tooth Disease, Type IAStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 156 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Medical Center Goettingen
- Sponsor type
- University, hospital or other
- Collaborators
- University Hospital Muenster, Ludwig-Maximilians - University of Munich
- Responsible party
- Principal investigator, Michael W Sereda, MD, Professor of Neurology, University Medical Center Goettingen
- Investigators
- Michael W. Sereda, MD, Professor of Neurology, Principal investigator, University Medical Center Goettingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03386266
- Sponsor's protocol ID
- 05171
- Status last verified
- Nov 2020
- First submitted
- 13 Dec 2017
- Last updated
- 6 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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 25085517Fledrich 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 22189569Fledrich 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
Study at a glance
From the registry record, last updated by the sponsor on 6 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarkers and Validation of Selected Outcome Measures (CMTBiomarker)
- ClinicalTrials.gov ID
- NCT03386266
- Acronym / sponsor ID
- 05171
- Conditions
- Charcot-Marie-Tooth Disease, Type IA
- Keywords
- Biomarkers, CMT1A, Charcot-Marie-Tooth disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 156 participants (actual)
- Lead sponsor
- University Medical Center GoettingenUniversity, hospital or other
- Collaborators
- University Hospital Muenster, Ludwig-Maximilians - University of Munich
- Study start
- 11 Aug 2017 (actual)
- Primary completion
- 30 Sep 2019 (actual)
- Study completion
- 30 Sep 2019 (actual)
- First posted
- 29 Dec 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 3 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients suffering from CMT1A disease
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 May 2026.
- Background: PubMed 25085517Mannil 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.
- Background: PubMed 22189569Fledrich 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.
- Results publication: PubMed 28860329Fledrich 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Michael W. Sereda, MD, Professor of Neurology principal investigator
University Medical Center Goettingen
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Charcot-Marie-Tooth Disease, Type IA, run by University Medical Center Goettingen at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
mRNA Expression Levels in blood samples from CMT1A patients (time frame: 3 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03386266, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 May 2026.