Myotonia congenita autosomal dominant
Other Names for this Disease
- Autosomal dominant myotonia congenita
- Thomsen disease
- Thomsen's disease
Your QuestionHow can I learn about research involving myotonia congenita? Is gene therapy available for myotonia congenita?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
Check http://clinicaltrials.gov/ often for regular updates.
You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if you are eligible for any clinical trials.
Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Web site: http://clinicalcenter.nih.gov/
If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
A tutorial about clinical trials that can also help answer your questions can be found at the following link from the National Library of Medicine:
Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases Research (ORDR), part of the National Institutes of Health.
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 ten consortia and a Data and Technology Coordinating Center (DTCC). One of these consortia is the Consortium for Clinical Investigations of Neurologic Channelopathies. 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
- Myotonia Congenita. National Institute of Neurological Disorders and Stroke (NINDS). February 14, 2007; http://www.ninds.nih.gov/disorders/myotoniacongenita/myotoniacongenita.htm. Accessed 7/29/2010.
- Myotonia Congenita. Genetics Home Reference (GHR). April 2007; http://ghr.nlm.nih.gov/condition=myotoniacongenita. Accessed 7/29/2010.