NCT03386266

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
156

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Aug 2017

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

August 11, 2017

Completed
4 months until next milestone

First Submitted

Initial submission to the registry

December 13, 2017

Completed
16 days until next milestone

First Posted

Study publicly available on registry

December 29, 2017

Completed
1.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 30, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 30, 2019

Completed
Last Updated

May 6, 2026

Status Verified

November 1, 2020

Enrollment Period

2.1 years

First QC Date

December 13, 2017

Last Update Submit

April 29, 2026

Conditions

Charcot-Marie-Tooth Disease, Type IA

Keywords

BiomarkersCMT1ACharcot-Marie-Tooth disease

Outcome Measures

Primary Outcomes (2)

  • mRNA Expression Levels in blood samples from CMT1A patients

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

    3 years

  • mRNA Expression Levels in Skin biopsies from CMT1A patients

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

    3 years

Eligibility Criteria

Age3 Years - 65 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients suffering from CMT1A disease

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University Medical Center Goettingen

Goettigen, Lower Saxony, 37075, Germany

Location

Related Publications (3)

  • 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.

    PMID: 25085517BACKGROUND

  • 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.

    PMID: 22189569BACKGROUND

  • 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.

    PMID: 28860329RESULT

Biospecimen

Retention: SAMPLES WITH DNA

DNA and RNA from blood and skin

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor NeuropathyNervous System MalformationsNervous System DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesPolyneuropathiesPeripheral Nervous System DiseasesNeuromuscular DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, Inborn

Study Officials

  • Michael W. Sereda, MD, Professor of Neurology

    University Medical Center Goettingen

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Michael W Sereda, MD, Professor of Neurology

Study Record Dates

First Submitted

December 13, 2017

First Posted

December 29, 2017

Study Start

August 11, 2017

Primary Completion

September 30, 2019

Study Completion

September 30, 2019

Last Updated

May 6, 2026

Record last verified: 2020-11

Data Sharing

IPD Sharing
Will not share

Locations

DE(1)