Trial document





This trial has been registered retrospectively.
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  DRKS00011351

Trial Description

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Title

Charcot-Marie-Tooth Natural history study biomarker and validation of selected result measurments in a clinical observation study to adult and young CMT patients under inclusion of CMT tissue collection

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Trial Acronym

CMT-NHS

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URL of the Trial

http://www.CMT-NET.de

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Brief Summary in Lay Language

In this study the natural course of the Charcot-Marie-Tooth (CMT) illness will be observed. CMT is an illness of the peripheral nervous system. Easy questions are asked to the present limitations. In addition, a physical examination will be done. Furthermore a strength measurement of different muscles, a short walking test, a gait test and a skill test is carried out. It is intended to follow up the course of disease for two years with three study visits. In addition, we would like to carry out other investigations with the help of blood. Therefore we aim to better understand the illness, predict the severity and the course better as well as find new Treatment options. Also we would like to take a small Piece of Skin of the forefinger with the help of a special punch. Hereby microscopic and other investigations will be carried out in the whole genome.

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Brief Summary in Scientific Language

The study consists of three subproject (C1, C2, S3a): C1: The aim is to better understand the natural course of CMT1A and to identify possible risk-factors, which influence the course of the disease. A primary aim is the analysis of potential determinants of the phenotypic expression inclusive their degrees of severity, as well as the documentation of the symptom variability during a period of 24 months as indicator of the illness dynamics. C2: The aim is to validate biomarkers in blood and Skin samples. Oservational period will be24 months. The Overall aim is to find indicative markers monitoring clinical severity. S3a: Aim is to collect tissue samples from CMT patients of different subgroups only for scientific-medical research. Scientific partners will get free access to the samples and data. A commercial use is not intended.

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Organizational Data

  •   DRKS00011351
  •   2017/01/11
  •   [---]*
  •   yes
  •   Approved
  •   31/2/16, Ethik-Kommission der Medizinischen Fakultät der Georg-August-Universität Göttingen
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Secondary IDs

  • [---]*
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Health Condition or Problem studied

  •   G60.0 -  Hereditary motor and sensory neuropathy
  •   Charcot-Marie-Tooth (CMT) illness
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Interventions/Observational Groups

  •   C1: The planned project duration is 36 month. There will be 3 study-visits (at the beginning, after 12 and 24 months) with following tests/ scales: CMTNS-2 (adults), CMT-Ped Scale (children and youth), SF 36 (adults) and KINDL (children and youth),Epworth-sleepiness scale (ESS) , Pittsburgh Sleep Quality Index (PSQI), Fatigue Severity Scale (FSS) and Beck-Depression-Inventar (BDI). Overall-Neuropathy-Limitations-Scale (ONLS) for muscle strength, including 6-Minute-Walk-Test, 10-Minute Walk-Test, Nine-Hole-Peg-Test as indicator for phenotypic variability. Glucose- and thyreoid metabolism, inflammation markers, Vitamin C and D,neuroactive steroids correlation with clinical results.
    C2: The validation of blood- and skin biomarkers and selected result measurments will be done in genetic diagnosed CMT patients
    S3a: skin biopsies will be done in genetic diagnosed CMT patients
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Characteristics

  •   Non-interventional
  •   Other
  •   Single arm study
  •   Open (masking not used)
  •   [---]*
  •   Uncontrolled/Single arm
  •   Other
  •   Single (group)
  •   N/A
  •   N/A
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Primary Outcome

Charcot-Marie-Tooth-Neuropathy Score-Version 2 (CMTNS-v2) (adults): validated scale of sensor- and motor- symptoms of upper and lower extremities and of ulnar nerv muscle action potential as well as sensoric action potentials.
CMT-Ped (children and young persons, 3-18 years). The test will be done at the Beginning, after 12 and after 24 months.

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Secondary Outcome

Following tests will be done at the beginning, after 12 and after 24 months:
SF-36 (young persons and adults): inquiry of health-related quality of life with self-administerd form
KINDL (children and young persons): health-related quality of life, self-administerd form for children- and parents .
Fatigue-Severity-Scale (FSS)
Pittsburgh Sleepiness Quality Scale (PSQI)
Epworth Sleepiness Scale (ESS)
Becks-Depression-Inventar (BDI-II)
Indikators of phenotypic variability:
Overall neoropathy limitations scale (ONLS)
6-Minute Walk Test (6 MWT)
10-meter-walking-test (10-MWT)
Walk-12: Patient-rated measure of walking quality
maximal voluntary isometric contraction (MVIC) with a portable myometer for the distal arm and leg
9-hole-peg-test (9-HPT) a quantitative test of motor coordination of extremities in the upper limb

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Countries of Recruitment

  •   Germany
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Locations of Recruitment

  • University Medical Center 
  • other 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
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Recruitment

  •   Actual
  •   2016/10/01
  •   350
  •   Multicenter trial
  •   National
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Inclusion Criteria

  •   Both, male and female
  •   3   Years
  •   65   Years
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Additional Inclusion Criteria

Patients with a clinical CMT-diagnosis
Patients with a proven genetic CMT 1A diagnosis(adults)

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Exclusion Criteria

Pregnancy and breast-feeding
relevant neurological or psychiatric illness
relevant internal medical history
drug- or alcohol abuse
permanent vit. C intake
participation in a pharmaceutical study within 4 weeks prior to study inclusion

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Addresses

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    • Universitätsklinikum Münster Klinik für Schlafmedizin und Neuromuskuläre Erkrankungen
    • Mr.  Prof. Dr. med.  Peter   Young 
    • Albert-Schweitzer Campus 1
    • 48149   Münster
    • Germany
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    • Universitätsklinikum Münster Klinik für Schlafmedizin und Neuromuskuläre Erkrankungen
    • Mr.  Prof. Dr.  Peter   Young  
    • Albert-Schweitzer Campus
    • 48149  Münster
    • Germany
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    • Universitätsklinikum Münster Klinik für Schlafmedizin und Neuromuskuläre Erkrankungen
    • Mr.  Prof. Dr. med.  Peter  Young 
    • Albert-Schweitzer Campus
    • 48149  Münster
    • Germany
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Sources of Monetary or Material Support

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    • Bundesministerium für Bildung und Forschung Dienstsitz Berlin
    • Friedrichstraße 130 B
    • 10117  Berlin
    • Germany
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Status

  •   Recruiting complete, follow-up continuing
  •   [---]*
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Trial Publications, Results and other Documents

  • [---]*
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* This entry means the parameter is not applicable or has not been set.