Has any clinical trials been done on Myotonia Congenita?

Type of Myotonia: myotonia congenita

Country: U.S.A.

There was one that started in 2006 and should be finished this summer. I'll paste in the information below. They are no longer accepting patients.

There's really not much interest because the research is driven by potential profit for a new treatment or drug. Our condition is pretty low on the totem pole just because it is not life-threatening, isn't costly in terms of treatment over a lifetime and it can be controlled by drugs already in existence. Developing a medication specifically to target the chloride ion channel would not be profitable because there are just too few people with the condition.

Jan



Further study details as provided by University of Kansas:

Biospecimen Retention: Samples With DNA

Blood samples

Estimated Enrollment:75

Study Start Date: February 2006

Estimated Study Completion Date: 3ngyJuly 2012



Estimated Primary Completion Date:

July 2012 (Final data collection date for primary outcome measure)

Detailed Description:

Nondystrophic myotonias are muscle disorders caused by abnormal muscle cell membrane proteins that affect the control of muscle fiber contraction. These disorders are extremely rare, and little is known about how to best treat the various subtypes of NDM. The purpose of this study is to characterize the clinical features and symptoms of NDM as well as to pair this data with specific NDM subtypes. In turn, this may lead to the development of improved treatments. The study will also establish clinical endpoints for use in future studies.

This multi-center observational study will involve both a cross-sectional data analysis and a prospective longitudinal analysis. Participants will initially attend a one-day outpatient study visit. Various baseline measurements will be collected, including demographics, medical history, and quality of life measures. Blood samples will be taken to evaluate laboratory values and genetic factors. Participants will undergo manual muscle testing (MMT), clinical myotonia assessments, and functional movement assessments. Routine nerve conduction studies and electromyography (EMG) will also be performed in order to test for the presence of myotonia in specific muscles. Annual follow-up evaluations will occur 1 and 2 years following the first study visit.

Type of Myotonia: Thomsen's

Country: USA

Oh yes! I was part of the clinical trial at the University of Kansas Medical Center. They got a large grant to study why Mexiletine is so effective. It took several months and it was quite an experience. As mentioned in another post, they are now petitioning for a research study of Lacosamide because it has been effective in animals. I just saw my neurologist last week and was started on Lacosamide. I'll keep you posted. The UKMC has a specialty group of neurologists that study Muscular Dystrophy and specifically the Myotonias. Stuart

Type of Myotonia: Thomsens

Country: USA

Hey Stuart

I have great results with Mexiletine. If you would feel like it, could you post some of your insights for me?
Also how is the Lacosamide working out so far?

greets Nick

Type of Myotonia: Becker's

Country: Belgium