An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients

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.

Study Overview

• Status: Completed
• Conditions: Congenital Abnormalities; Genetic Diseases, Inborn; Nerve Compression Syndromes; Hereditary Sensory and Motor Neuropathy; Heredodegenerative Disorders, Nervous System; Tooth Diseases; Charcot Marie Tooth Disease (CMT)

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.

• Study Type: Observational
• Enrollment (Actual): 411

Contacts and Locations

Study Locations

• United States
  • Florida
    • Tampa, Florida, United States, 33612
      • RDCRN Data Management and Coordinating Center , Epidemiology Center; University of South Florida

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with CMT, 18 years or older, who have joined the Inherited Neuropathies Consortium RDCRN Contact Registry.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
INC Contact Registry Participants; Adult CMT patients who have self-registered at the Inherited Neuropathies Consortium (INC) Contact Registry, a web-based contact registry developed and supported by the Data Management and Coordinating Center (DMCC) for the Rare Diseases Clinical Research Consortium (RDCRN), located at the University of South Florida.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Percentage of participants affected by specific symptoms of CMT.	The percentage of subjects within the sample who have reported experience with the symptom will be calculated.	1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Severity of impact of each identified symptom of CMT	The symptoms will be rank ordered with symptoms that affect life severely receiving the highest rank.	1 year

Collaborators and Investigators

• Sponsor: University of South Florida
• Collaborators: National Institute of Neurological Disorders and Stroke (NINDS); University of Rochester
• Investigators: Study Chair: David Herrmann, MBBCh, University of Rochester

Study record dates

Study Major Dates

• Study Start: July 1, 2012
• Primary Completion (Actual): June 1, 2013
• Study Completion (Actual): June 1, 2013

Study Registration Dates

• First Submitted: April 20, 2015
• First Submitted That Met QC Criteria: April 28, 2015
• First Posted (Estimate): April 29, 2015

Study Record Updates

• Last Update Posted (Actual): June 14, 2017
• Last Update Submitted That Met QC Criteria: June 9, 2017
• Last Verified: June 1, 2017

More Information

Terms related to this study

• Keywords: CMT; Charcot Marie Tooth disease; HMSN; HMN; HSN
• Additional Relevant MeSH Terms: Neuromuscular Diseases; Stomatognathic Diseases; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Nervous System Malformations; Polyneuropathies; Nervous System Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Tooth Diseases; Nerve Compression Syndromes; Charcot-Marie-Tooth Disease; Hereditary Sensory and Motor Neuropathy; Heredodegenerative Disorders, Nervous System
• Other Study ID Numbers: INC6606 (Other Identifier: Inherited Neuropathies Consortium); 5U54NS064808-07 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No