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Recruiting NCT07570459

TREMOR IN CHARCOT-MARIE-TOOTH

Observational CMT CMT (Charcot Marie Tooth Disease) Charcot Marie Tooth Disease (CMT) Charcot Marie Tooth Disease

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: CMT, CMT (Charcot Marie Tooth Disease), Charcot Marie Tooth Disease (CMT), Charcot Marie Tooth Disease. Basic parameters: 18 years — 65 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Germany
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Official title

Investigation of Tremor in Patients With Charcot-Marie-Tooth Neuropathy

Overview

Tremor is a symptom that has already been described in many case reports and case series concerning patients with Charcot-Marie-Tooth (CMT) disease. However, the pathophysiology of tremor in this condition remains largely unclear. It has also not been sufficiently investigated to what extent tremor in CMT patients constitutes a relevant impairment of quality of life. This project focuses on a more detailed characterization of tremor in CMT patients using surface electromyography and accelerometer analysis, as well as the collection of individual clinical data, particularly regarding the symptom of tremor, in order to facilitate the characterization and etiological classification of the tremor. In addition, a questionnaire-based assessment will be conducted to capture the impact of tremor on activities of daily living and the associated burden in this specific patient cohort. The entire data collection process will be supported by a clinical examination, which will be video-recorded by experienced neurologists to ensure more reliable analysis. This serves both the characterization of tremor and the illustration of its functional limitations. Where available, the data will be correlated with genetic variants to allow conclusions about possible genetic predispositions or disease progression. As a control group, CMT patients who have not yet reported a tremor will be included.

Primary outcome measures

  • Activities of Daily Living -Questionaire(ADL) [Time frame: baseline]
  • Assessment of Handicap - Questionaire [Time frame: baseline]
  • Fahn Tolosa Marin Rating Scale [Time frame: baseline]
  • Electrophysiological characterization of tremor using surface EMG and accelerometer analysis [Time frame: baseline]
Secondary outcome measures (2)
  • MDS-UPDRS Part III without Tremor [Time frame: baseline]
  • SARA Score [Time frame: baseline]

Eligibility criteria

Inclusion criteria

  • Clinical CMT Diagnosis / Anamnestically Healthy Control Group
  • Genetic confirmation of CMT in adult patients
  • Ability to achieve the outcome measure at baseline
  • Age between 18 and 65 years
  • Capacity of all study participants to consent and signed informed consent, including patient or participant information and consent form

Exclusion criteria

  • Pregnancy or breastfeeding period
  • Other relevant neurological or psychiatric disorders, acute or in the past history
  • Presence of a serious previous internal disease

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model
Other

Study locations

Germany · 1 center
  • University Medical Centre — Göttingen

Identifiers

NCT: NCT07570459 · 17/05/2024_C3

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗