Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)

The study aims to qualitatively and quantitively evaluate pain in patients suffering from CMT with 3 standardized questionnaires (SF-36, NPSI-G, PAIN DETECT) as well as its impact on the quality of life.

Study Overview

• Status: Completed
• Conditions: CMT

Detailed Description

Hereditary neuropathies are a group of clinically and genetically heterogeneous diseases of the peripheral nervous system. Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy (HMSN), is the most common form of hereditary neuropathy with a prevalence of approximately 1 in 2,500 and with approximately 30,000 affected persons in Germany. There is no therapy known so far. In addition to the characteristic symptoms of a distal to proximal progressive symmetric muscular atrophy, especially of the lower extremities, there is a weakening of the muscles of the lower legs and feet, with emphasis on the "small" foot muscles and the peroneal muscle group, which clinically manifests as a so-called "stepper gait". It is also known that many CMT patients additionally suffer from pain, but more detailed studies on pain quality and quantity and their impact on patients' quality of life have not yet been systematically performed. These parameters will be investigated in this study, supported by the company Grünenthal, in the form of a questionnaire survey with validated questionnaires on pain and quality of life for at least 200 CMT patients. A representative result could lead to further investigations of pain in CMT patients and ultimately to the development of an adequate pain therapy.

Recruitment of patients will occur mainly through a call of the Germany-wide CMT registry, which is part of the national research network CMT-NET (coordinator: Prof. Michael Sereda). Interested patients are invited to contact the study team at the UMG. The patients will be informed about the study and if further interested 4 questionnaires (1 regarding the personal history as well as 3 standardized questionnaires from literature regarding quality of life and pain (SF-36, NPSI-G, PAIN DETECT) will be sent to the patients together with obligatory study documents and a pre-franked return envelope. A personal visit at the UMG is not planned, so that the patients don´t have any expenses. The data are pseudonymized at the UMG and transferred to a database and finally statistically evaluated by Gruenenthal.

• Study Type: Observational
• Enrollment (Actual): 200

Contacts and Locations

Study Locations

• Germany
  • Goettigen, Germany, 37075
    • University Medical Centre

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 65 years (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

German-wide, registered patients in CMT-registry

Description

Inclusion Criteria:

• Clinical diagnosis of CMT
• Genetic confirmation of CMT diagnosis
• Age between 18 and 65 years
• Signed consent form

Exclusion Criteria:

• Other relevant neurological or psychiatric diseases, acute or past
• Serious internal medical illness
• Drug and / or alcohol dependence
• Participation in another clinical trial within 4 weeks prior to enrollment

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
SF-36 Questionnaire	Questionnaire to evaluate health status	1 year
NPSI-G Questionnaire	Questionnaire to discriminate neuropathic and non-neuropathic pain	1 day
PAIN DETECT Questionnaire	Questionnaire for the diagnosis of neuropathic pain (intensity, pattern, quality)	4 weeks

Collaborators and Investigators

• Sponsor: University Medical Center Goettingen

Study record dates

Study Major Dates

• Study Start (ACTUAL): June 3, 2019
• Primary Completion (ACTUAL): January 31, 2020
• Study Completion (ACTUAL): March 31, 2020

Study Registration Dates

• First Submitted: May 21, 2019
• First Submitted That Met QC Criteria: May 27, 2019
• First Posted (ACTUAL): May 29, 2019

Study Record Updates

• Last Update Posted (ACTUAL): November 5, 2020
• Last Update Submitted That Met QC Criteria: November 4, 2020
• Last Verified: November 1, 2020

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Polyneuropathies; Nerve Compression Syndromes; Charcot-Marie-Tooth Disease; Hereditary Sensory and Motor Neuropathy
• Other Study ID Numbers: 02202

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No