Myotonia congenita autosomal recessive
- Becker disease
- Myotonia generalized
- Generalized myotonia
- Becker's disease
Your QuestionHow can I learn about research involving myotonia congenita? Is gene therapy available for myotonia congenita?
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You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling 1-800-411-1222 to speak with a specialist, who can help you determine if you are eligible for any clinical trials. If you are located outside the United States and would like to be contacted via telephone, you will need to contact the PRPL Office and provide your telephone number i full, including area code and international dialing prefix.
Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Web site: http://clinicalcenter.nih.gov/
You can find information about participating in a clinical trial, as well as learn about resources for travel and lodging assistance, through the Get Involved in Research section of our Web site.
Research in the area of neurologic channelopathies in general may also prove of benefit to myotonia congenita. The National Institutes of Health (NIH) established the Rare Diseases Clinical Research Network (RDCRN) to facilitate collaboration among experts in many different types of rare diseases. The goal of the network is to contribute to the research and treatment of rare diseases by working together to identify biomarkers for disease risk, disease severity and activity, and clinical outcome, while also encouraging development of new approaches to diagnosis, prevention, and treatment. The RDCRN consists of 22 research consortia and a Data and Technology Coordinating Center (DTCC). One of these consortia is the Consortium for Clinical Investigations of Neurological Channelopathies (CINCH). Click here to learn more about this consortium.
In addition, the Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
You can search for new trials by visiting ClinicalTrials.gov, a service of the National Institutes of Health. You may wish to refer to a list of gene therapy
- NINDS Myotonia Congenita Information Page. National Institute of Neurological Disorders and Stroke (NINDS). October 18, 2015; http://www.ninds.nih.gov/disorders/myotoniacongenita/myotoniacongenita.htm. Accessed 12/26/2015.
- Myotonia congenita. Genetics Home Reference (GHR). April 2007; http://ghr.nlm.nih.gov/condition/myotonia-congenita. Accessed 12/26/2015.