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Scientists at Massachusetts General Hospital have found a potential method to slow the onset of Huntington’s disease, according to a study slated to be published in next month’s issue of the journal “Neurology.”
A neurodegenerative genetic disorder that affects nearly 30,000 Americans, Huntington’s Disease causes cognitive decline, loss of muscle coordination, and psychiatric problems.
Lead author H. Diana Rosas, researcher at the Mass. General Institute for Neurodegenerative Diseases, and colleagues conducted clinical trials that suggested the positive effects of the nutritional supplement creatine. High dosage treatments of creatine were proven to be safe and well tolerated and had the effect of slowing the advancement of the presymptomatic stage of the disease.
The study utilized a novel trial design in which individuals did not need to know if they were genetically predisposed to the disease. While most modern techniques require participants to know if they have the genetic mutation that causes the disease, the MGH study enrolled individuals classified as “at-risk”—people with one parent affected by Huntington’s Disease.
Rosas believes that this aspect of the study was particularly important because it gave participants peace of mind while also increasing enrollment in the study.
“There are still a lot of issues related to genetic discrimination and testing, not the least of which is knowing that you will one day get sick,” Rosas said. “You can imagine what it must be like, living knowing that one day you will develop symptoms of a lethal disease and thinking that every time that you drop a glass or forget where you put your keys, that symptoms have started. We have to find more creative ways to perform clinical trials.”
The study followed over fifty participants, the majority of whom had a significant chance of having inherited the disease from one parent. Half the population took creatine daily while the other half took a placebo. At the end of six months, magnetic resonance imaging showed that those who carried the disease mutation and consumed high doses of creatine had a slower rate of atrophy in the cerebral cortex and basal ganglia than those who took the placebo.
These findings imply that creatine, a compound commonly used as a nutritional supplement for gaining muscle mass, may have some effect in slowing down the progression of early onset Huntington’s. At present, the full therapeutic uses of creatine are not clear.
“Our data supports the use of creatine early in disease; it is not yet clear how much of an impact creatine will have in symptomatic Huntington's, which is the focus of an on-going, international study,” Rosas said.
While creatine’s effect seemed apparent in brain imaging, participants who had taken the supplement did not perform better on cognitive tests than the control group. The authors noted that creatine might have to be used for much longer periods of time to potentially observe notable results.
Even with the limitations of the study, Rosas is hopeful for the future.
“Our ultimate goal is to find the cure; something I hope will happen in my lifetime,” Rosas said.
—Staff writer Arjun S. Byju can be reached at arjun.byju@thecrimson.com.
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