Around the world there are many rare neurological diseases that affect a small select group of people. There are even some individuals that are plagued by the symptoms, but may not necessarily have one of these diseases. Due to the insignificant amount of people who contract each rare neurological disease, it is very difficult for doctors to bring together enough people with one specific ailment to perform a study on them.
With no study, there can’t be any treatments specific and effective to any single disease. And with no treatment, many will continue to suffer from these diseases.
However, let’s say that a group of doctors were able to get together a large enough group of patients to conduct a study. And through this group, they tested out a treatment … and sure enough they got a positive result!
Well, this group of doctors consist of Neurologists Robert Griggs, M.D. and Jeffrey Statland, M.D. The rare disease they studied is nondystrophic myotonia, and the treatment they tested was a generic drug being used for a purpose other than its original.
Griggs and Statland are both a part of the University of Rochester Medical Center. They recently worked on a paper that was published in the Journal of the American Medical Association that tested the effects of Mexiletine on patients with nondystrophic myotonia.
Nondystrophic myotonia is a very rare muscle disease that causes people to feel stiffness and often pain in their muscles after voluntarily using them. Mexiletine was originally approved to treat patients with heart problems, but through this study it has helped ease the symptoms of those who suffer from this rare muscle disease.
Patients reported a 40 percent improvement in muscle stiffness and that their pain levels decreased by 50 percent. Patients also described an improved quality of everyday life after taking Mexiletine.
Conducting his study was no easy feat for Griggs and Statland. They had to bring in doctors and patients from four different countries!
“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,” said Griggs.
As the results of this study were positive, the fact that a study of such a rare and unheard disease worked was even more encouraging.
“This study can serve as a blueprint for future rare disease research,” said Statland.
Many doctors today will treat patients with rare diseases based on experience or inferred evidence. Having a “blueprint” for rare disease research will allow for more studies, accurate treatments, and maybe even cures. Based on Griggs and Statland’s work, the future of rare disease research and treatment is bright and very promising.
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