The nutritional supplement creatine, taken in high doses, is able to slow the onset of Huntington’s disease (HD) symptoms, according to a new neuroimaging study by Massachusetts General Hospital (MGH). The supplement was also found to be safe and well tolerated by most of the participants.
Huntington’s disease is a hereditary neurodegenerative disorder that causes uncontrolled movements, cognitive decline, and psychiatric problems. Symptoms typically begin in mid-adulthood.
The study was unique in that it allowed participants — all of whom had a genetic risk for the disorder — to have the option of enrolling without finding out if they carried the mutation that causes HD.
“More than 90 percent of those in the United States who know they are at risk for HD because of their family history have abstained from genetic testing, often because they fear discrimination or don’t want to face the stress and anxiety of knowing they are destined to develop such a devastating disease,” said lead author Dr. H. Diana Rosas of the MassGeneral Institute for Neurodegenerative Disease (MGH-MIND).
“Many of these individuals would still like to help find treatments, and this trial design allows them to participate while respecting their autonomy, their right not to know their personal genetic information.”
Known for its ability to help maintain cellular energy, creatine is being investigated as a treatment for a variety of neurological conditions, including Parkinson’s disease, amyotrophic lateral sclerosis, and spinal cord injury.
The study involved 64 adult participants, 19 who already knew they carried the mutated gene and 45 who had a 50 percent risk of having inherited the mutation. The patients underwent genetic testing, but the results were only revealed to the study statistician and not to the staff or participants.
The findings confirmed the status of those who had been previously tested and revealed an additional 26 pre-symptomatic carriers of the mutation.
In subjects who carried the HD mutation, the MRI scans taken at the beginning of the trial had revealed significant atrophy in regions of the cerebral cortex and basal ganglia (areas of the brain known to be affected by the disease).
MRI scans taken six months later, however, showed a slower rate of atrophy in participants taking creatine compared with those on placebo. Furthermore, the rate of brain atrophy had also slowed in pre-symptomatic participants who began taking creatine after six months on placebo.
“The results of this trial suggest that the prevention or delay of HD symptoms is feasible, that at-risk individuals can participate in clinical trials — even if they do not want to learn their genetic status — and that useful biomarkers can be developed to help assess therapeutic benefits,” says senior author Steven Hersch of MGH-MIND.
“In addition, we believe our study design sets an important precedent for other genetic diseases and will help inform discussions of how clinical research can coexist with deep concerns about genetic privacy and patient autonomy.”
The study was published in the journal Neurology.
Source: Harvard University