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International healthcare collaborations could help to find treatments for a number of rare diseases, scientists have said following the discovery of a medication that can ease the symptoms of nondystrophic myotonia.
A report published in the Journal of the American Medical Association explained how a drug that was originally approved for the treatment of heart disease can also deal with the symptoms of this rare inherited muscle disease.
University of Rochester Medical Center neurologists who played a role in the investigation suggested that the findings are good news for the millions of people who suffer from very rare diseases.
Dr Jeffrey Statland, first author of the paper and senior instructor in neurology, said: "This study shows that by bringing together experts and patients around the world and building a common infrastructure, we can tackle rare conditions that have eluded rigorous clinical study up to now."
He suggested that the research can act as a "blueprint" for future studies into rare diseases.
Rochester neurologist Dr Robert Griggs said approximately 30 million people globally are affected by a rare illness of some type.
While each individual condition might only affect a small group of people, there are thousands of different rare ailments, he added.
To identify the drug for nondystrophic myotoniam, researchers used patients and doctors from four countries to see whether mexiletine could help to alleviate their symptoms.
A total of 59 subjects took part in the study, with some given a placebo and others provided with 200 mg of mexiletine for four weeks.
After a further seven days, the participants were then given the other treatment for an additional four weeks.
Participants reported an improvement in stiffness of at least 40 per cent, as well as a substantial reduction in pain and an improvement to their everyday quality of life.
"Pulling off this study is quite an accomplishment when you consider not only the relatively small number of people who have this disease, but also the challenge of getting enough of them together to do a study that is statistically significant," Dr Griggs remarked.
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