Understanding the progression of Charcot-Marie-Tooth disease
- Condition: Charcot-Marie-Tooth disease
- Start Date: July 2010
- Expected End Date: July 2015
- Status: Recruiting
- Location of trial: Australia, North America, United Kingdom
What is the aim of the trial?
This is an observational trial and no new treatments or drugs will be given to the participants.
There are many different types of Charcot-Marie-Tooth disease that can be caused by changes to more than 40 different genes. This study aims to document the symptoms and signs of Charcot-Marie-Tooth disease, with a focus on four of the more rare types - 1B, 2A, 4A and 4C.
The study is a ‘natural history’ study which means it aims to increase the understanding of how the symptoms of Charcot-Marie-Tooth disease progress over time. This information will help doctors to accurately counsel patients on how their condition is likely to progress, helping them to plan for the future. Understanding the condition can also lead to improved standards of care and is also vital for planning clinical trials in the future.
By documenting the symptoms of the conditions they also aim to link what symptoms are associated with which types of the condition. This will help to improve diagnosis, especially of the more rare types of Charcot-Marie-Tooth disease.
To be able to find effective treatments for the different types of Charcot-Marie-Tooth disease, it is important to have reliable ways of testing the benefit of a new potential treatment. These are called outcome measures. Therefore, another aim of the study is to test the accuracy of two newly developed ways to measure the severity of the symptoms of Charcot-Marie-Tooth.
All of the information gathered in this study will make steps towards being ready to conduct clinical trials for Charcot-Marie-Tooth disease when potential therapies are developed.
Who can be involved in the trial?
This trial aims to recruit 3000 individuals with Charcot-Marie-Tooth disease, of any type. Individuals with the more rare types CMT1B, CMT2A, CMT4A and CMT4C are particularly encouraged to participate.
All patients MUST be seen in person at a participating clinical trial site to be enrolled in the study (please see below for a list of participating sites).
For more information about how to get involved in trials please read our FAQ.
What happens during the trial?
Involvement in the study will involve regular visits, at approximately one year interval over 5 years. The family and medical history will be recorded and symptoms and signs of the condition assessed, for example walking ability, hand function, strength and sensation. Tests will also be done to measure how well and how fast the nerves send electrical impulses (electrophysiology).
Where is the study taking place?
• National Hospital of Neurology and Neurosurgery, London, UK
• Wayne State University, Detroit, Michigan, USA
• University of Rochester, New York, USA
• Children's Hospital of Philadelphia, Pennsylvania, USA
• University of Pennsylvania Philadelphia, USA
• University of Westmead, Sydney, Australia
In most circumstances, for somebody to participate in a clinical trial, they need to live near the team of people who are conducting the research, because they need to be closely monitored.
How could the results of the trial benefit patients?
This study will give a better understanding of the progression of Charcot-Marie-Tooth disease. This will help to improve the diagnosis of these conditions and improve the standards of care that can be provided. This is especially important for the more rare types of Charcot-Marie-Tooth disease that are poorly understood. The information will also be invaluable for the planning of clinical trials in the future when new potential therapies are developed.
Matilde Laura, MD
Clinical Research Fellow
National Hospital of Neurology and Neurosurgery
Tel: +44 (0)845 1555 000 Ext 3024
Who is funding this study?
- National Institute of Neurological Disorders and Stroke (NINDS)
- Muscular Dystrophy Association, USA
Official name of the Trial:
Natural History Evaluation of Charcot Marie Tooth Disease Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C and Others (INC-6601)
Trial study number:
Further trial details:
For further information on the trial and detailed inclusion and exclusion please click on the link below. Sometimes these details can be quite technical. If you have any questions please discuss this with your clinician or contact the clinical trial organisers.