6612: Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients with Inherited Neuropathies

Status: Final Closed

Study Summary

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

The purpose of this study is to learn about Carpal Tunnel Syndrome (CTS) in patients with Charcot-Marie-Tooth (CMT) disease or Hereditary Neuropathy with liability to Pressure Palsies (HNPP).

For Diseases:

  • Charcot-Marie-Tooth disease (CMT)
  • Hereditary Neuropathy with liability to Pressure Palsies (HNPP)
  • Carpal Tunnel Syndrome (CTS)

Background

CMT and HNPP are two types of inherited neuropathy.  Symptoms of inherited neuropathies vary according to the type and may include numbness, tingling, pain and weakness in the hands and feet. HNPP is a unique type of inherited neuropathy, in that the peripheral nerves in the arms and legs are vulnerable to pinching. CMT is a progressive disease and (unlike HNPP) the vulnerability of peripheral nerves to pinching is not a known feature of the disease.

Carpal Tunnel Syndrome (CTS) affects 3-6% of adults (4-10 million Americans) and is usually very treatable. CTS is caused by pinching of a nerve (median nerve) at the wrist. It can cause numbness, tingling, pain and weakness in the hand. There is some evidence to suggest that CTS might be more common in people who have inherited neuropathies such as CMT or HNPP.  Despite the fact that CTS is relatively common, there is currently little information about CTS in people who have CMT or HNPP.  

This study is important, because we believe it will help us better understand how CTS affects people with CMT or HNPP and which treatments for CTS are best for patients with CMT or HNPP.

The research questions are:

  1. In people with CMT or HNPP who have/had a diagnosis of CTS, which treatments were most effective?  Which treatments did not work?
  2. In people with CMT or HNPP who have/had a diagnosis of CTS, how severe were the CTS symptoms in comparison to the symptoms of CMT or HNPP disease?
  3. How often do people with CMT or HNPP have symptoms in the hands similar to CTS?

About this Study

This study involves one online survey that will take about 25 minutes to complete. Over 2290 patients enrolled in the Rare Diseases Clinical Research Network (RDCRN) Inherited Neuropathies Consortium (INC) Contact Registry might be eligible for the online survey.  All adult CMT or HNPP patients who have self-registered for the INC Contact Registry will be invited to participate in the online study.  You do not have to have CTS to participate in this study. You will be asked a few questions about your demographics and over 100 questions that focus on symptoms that can be due to CTS or neuropathy.

Targeted Enrollment

You may be eligible to participate if:

  • You have been diagnosed with CMT or HNPP
  • You are an adult age 18 years or older
  • You have joined the INC Contact Registry

You are not eligible to participate if:

  • You are unable to provide informed consent and complete the survey
  • You are unable to read or speak English

How to participate

If you have not done so already, please join the RDCRN INC Contact Registry! We will invite individuals in the RDCRN INC Contact Registry to participate in this study.

If you have questions or concerns about this study or about the survey, please contact:

Callyn A. Kirk, MSPH
University of South Florida
Health Informatics Institute
Callyn.Kirk@epi.usf.edu
(813) 396-9244

University of Rochester Medical Center

Research Coordinators:
Janet Sowden
Janet_Sowden@urmc.rochester.edu

Joan Mountain
Joan_Mountain@urmc.rochester.edu

(585) 275-6372 or (585) 275-1267

Principal Investigators:
David Herrmann, MBBCh
Francis Panosyan, MD, PhD
Michael Shy, MD
Callyn Kirk, MSPH    

Learn More

What is CMT?