6608: Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients

Status: Final Closed

Who this Study is for:

Orthopedic surgeons who usually perform surgical procedures for foot deformities on individuals with CMT attending centers participating in the INC.

Study Summary

Charcot Marie Tooth (CMT) disease is the most common inherited peripheral neuropathy. Foot deformities are common complications in people with CMT and orthopedic surgery is often needed. The purpose of this study is to understand the current surgical approach to orthopedic complications in patients with CMT.

Approximately 45 orthopedic surgeons who perform surgical procedures for foot deformities on CMT patients attending centers participating in the Inherited Neuropathies Consortium (INC) will be asked to complete a survey.

Background

Charcot-Marie-Tooth (CMT) Disease is a group of genetic nerve disorders.

Charcot Marie Tooth (CMT) disease is an umbrella term that covers any inherited peripheral neuropathies. People with CMT have a problem with the nerves that go to the feet and hands that cause muscle and sensation loss, as well as difficulty with balance. People with CMT have frequent foot deformities (e.g., claw toes, high arches, inturned feet). Some people may need operations to correct these foot deformities. Operations are usually needed if the pain cannot be helped by the use of orthotics and by physical therapy. Currently, there are no universal guidelines about the type of surgery, and the management may vary in different centers and in different countries.

The aim of the survey is to determine how the surgical management of foot deformities related to CMT varies among different specialized centers.

About this Study

This study involves the completion of one survey by orthopedic surgeons who usually perform surgical procedures for foot deformities on individuals with CMT attending centers participating in the INC.

The survey will be completed once. The survey includes two different case scenarios of typical CMT patients (one adult and one child). The orthopedic surgeon will be asked which type of operation would do on each case scenario.

Targeted Enrollment

Who will participate:

  • Orthopedic surgeons who perform operations on foot deformities in individuals with CMT who attend centers participating in the INC and are willing to complete the study survey.

You are not eligible to participate if:

  • You do not read or speak English and
  • You are not able to provide informed consent

How to participate

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

United States

California

  • Cedars-Sinai Medical Center, Los Angeles
    PI: Richard Lewis, MD
    Contact: Peggy Allred, PT, DPT
    Phone: 424-315-2694
    E-Mail: peggy.allred@cshs.org

New York

Pennsylvania

  • University of Pennsylvania, Philadelphia
    PI: Steven Scherer, MD, PhD
    Contact: Jessica Richardson, Research Coordinator
    Phone: 215-898-0180
    E-mail: Jessica.Richardson@uphs.upenn.edu

International

Australia

  • The Children's Hospital at Westmead, Sydney, NSW
    PI: Joshua Burns, PhD
    Contact: Kayla Cornett, Study Coordinator
    Phone: +61 2 9845 3004
    E-mail: kayla.cornett@health.nsw.gov.au 

Italy

  • C. Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan
    PI: Davide Pareyson, MD
    Contact: Daniela Calabrese
    Phone: +39-02-2394.3001
    E-mail: Daniela.Calabrese@istituto-besta.it

United Kingdom

  • National Hospital of Neurology and Neurosurgery, Queens Square, London
    PI: Mary Reilly, MD
    Primary Contact: Daleen Lopez-Begg
    Phone: 0044 203 448 8011
    Email: Daleen.Lopez-Begg@ucl.ac.uk 
    Secondary Contact: Mariola Skorupinska
    Phone: 0044 203 108 7544
    E-mail: Mariola.Skorupinska@uclh.nhs.uk 

 

Join the Contact Registry for: Charcot Marie Tooth disease (CMT) to recieve updates on future research.

 

Learn More

What is CMT?