Clinical trial NCT02429947: An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients
Official title: An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Charcot Marie Tooth Disease (CMT)
Hereditary Sensory and Motor Neuropathy
Nerve Compression Syndromes
Tooth Diseases
Congenital Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Keywords: Charcot Marie Tooth disease
CMT
HMSN
HMN
HSN
Lead sponsor: University of South Florida
Sponsor class: OTHER
Collaborators: name: University of Rochester
name: National Institute of Neurological Disorders and Stroke (NINDS)
First posted: 2015-04-29
Enrollment: 411
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with CMT, 18 years or older, who have joined the Inherited Neuropathies Consortium RDCRN Contact Registry.

Brief summary: The purpose of this study is to identify the issues that have greatest impact on QOL for patients with Charcot Marie Tooth (CMT) Disease. Patients who have -registered in the Inherited Neuropathies Consortium Contact Registry will be invited to participate.

Detailed description: The protocol consists of two anonymous surveys. The first large scale survey is designed to identify items that best reflect the issues and symptoms with high impact upon QOL in CMT. A second brief survey focuses on the frequency and impact of muscle cramps on QOL in adult CMT. The surveys will be distributed via an online link to all adult CMT patients self-registered with the RDCRN contact registry. Those who complete the first two surveys will be requested to complete only the second brief survey on muscle cramps again 3 weeks after completing it the first time. Those who complete the brief muscle cramps survey a second time will be requested to complete it again 5 weeks later to assess variability in occurrence of muscle cramps.

The first large scale survey to identify items that best reflect the issues and symptoms with high impact upon QOL in CMT will be sent out in a second wave. This second wave will only contain the QOL survey and not the muscle cramp survey. The QOL survey will be distributed via an online link to three populations: adult CMT patients self-registered with the INC (RDCRN) Contact Registry who had not been registered at the time of the first enrollment period, adult patients who had been registered at the time of the first enrollment period and had received the survey, but had not returned it, and patients who were registered, but were under age 18 at the time of the first enrollment period and have turned 18 by the time of the second enrollment period.

Eligibility criteria: Inclusion Criteria:

* Patients with CMT that are 18 years or older and have joined the INC RDCRN Contact Registry.

Exclusion Criteria:

* Does not have CMT.
* Does not read or speak English.

Primary outcomes:
measure: Percentage of participants affected by specific symptoms of CMT.
timeFrame: 1 year
Secondary outcomes:
measure: Severity of impact of each identified symptom of CMT
timeFrame: 1 year
Other outcomes:
Locations:
city: Tampa
country: United States
facility: RDCRN Data Management and Coordinating Center , Epidemiology Center; University of South Florida
state: Florida
Study officials:
affiliation: University of Rochester
name: David Herrmann, MBBCh
role: STUDY_CHAIR
References: