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

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 - CMT-NHS

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00011351

Enrollment

350

Registered

2017-01-11

Start date

2016-10-01

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Charcot-Marie-Tooth (CMT) illness G60.0

Interventions

Group 1: 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 a

Eligibility

Sex/Gender

All

Age

3 Years to 65 Years

Inclusion criteria

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

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame
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.	—

Secondary

Measure	Time frame
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	—

Measure

Time frame

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

—

Countries

Germany

Contacts

Public ContactPeter Young

Universitätsklinikum Münster Klinik für Schlafmedizin und Neuromuskuläre Erkrankungen

young@uni-muenster.de+49 251 8348196

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026