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MassGeneral Institute for Neurodegenerative Disease (MIND)
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Basic Science Research
A major focus of Dr. Steve Hersch’s research is to understand the role of the huntingtin protein in the pathogenesis of Huntington’s disease. The recipient of federal government grants, Dr. Hersch is also supported by private foundations including the HDSA and the Hereditary Disease Foundation (HDF).Clinical ResearchDr. Hersch and collaborators conduct clinical research studies and clinical trials to advance the diagnosis and treatment of Huntington’s disease. He is developing a translational research program to more rapidly bring research findings into clinical practice.
Dr. Hersch has had leadership roles inHuntington Study Group(HSG) research as well as in [name of projects at Mass General and/or Brigham, or Harvard.]
Steven M. Hersch, MD, PhD
Research Interests: The role of huntingtin protein in the pathogenesis of Huntington’s disease, development of potential therapeutic compounds, clinical research studies and clinical trials.
Research Techniques: Transgenic mouse models, brain imaging, blood biomarker measures
Diseases Studied: Huntington's disease and other neurodegenerative diseases
Basic Science ResearchThe Hersch Laboratory is currently conducting research in the following areas.• Neuroanatomic and chemical changes• The huntingtin protein• Animal and cell models• Experimental treatments• Brain imaging• Genetic modifiers of HD• Alterations in gene and protein expression and function• Biomarker developmentClinical Trials
Creatine, Tolerability, and Efficacy in Huntington's Disease (CREST-E)This study, a definitive test of whether high- dose creatine can slow the progression of HD, is in collaboration with the Huntington’s Study Group and funded by the National Institutes of Health, the National Center for Complementary and Alternative Medicine (NCCAM) and the U.S. Food and Drug Administration (FDA) Orphan Products division.Creatine is a natural substance that can help supply energy to cells and also reduces oxidative stress to brain cells. In HD, brain cells run out of energy, hastening their degeneration. Earlier studies using creatine with HD mouse models as well as smaller pilot clinical trials led by Drs. Hersch and Rosas demonstrated impressive results. “Large amounts of creatine have to be ingested in order for therapeutic levels to reach the brain, so safety was a big concern,” says Dr. Hersch. “However, our Phase II trial with only 10 patients showed that high levels were safe and reached the brain.We were also amazed to see that a blood biomarker that detects brain degeneration was normalized, and brain imaging showed a slowing of brain shrinkage.” Now, 650 patients from 44 sites around the world will test whether creatine monohydrate can slow the progression of HD in comparison to a placebo. The trial will take five years and millions of dollars to determine whether the biological effects that were observed in the small trial will translate to significantly slowing down disease progression and maintaining the quality of life for patients with HD.
To find out more about this trial visit the study description on the Partners Clinical Research Network (CRnet).
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NCBI PubMed publications
MassGeneral Institute for Neurodegenerative Disease
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Anne B. Young, MD, PhDDirector, Massgeneral Institute for Neurodegenerative Disease Professor of Neurology, Harvard Medical School
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