Clinical trial NCT03966287: Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)
Official title: Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: CMT
Lead sponsor: University Medical Center Goettingen
Sponsor class: OTHER
First posted: 2019-05-29
Enrollment: 200
Sex: ALL
Minimum age (years): 18
Maximum age (years): 65
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: German-wide, registered patients in CMT-registry

Brief summary: 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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: SF-36 Questionnaire
timeFrame: 1 year
measure: NPSI-G Questionnaire
timeFrame: 1 day
measure: PAIN DETECT Questionnaire
timeFrame: 4 weeks
Secondary outcomes:
Other outcomes:
Locations:
city: Goettigen
country: Germany
facility: University Medical Centre
Study officials:
References: