Date: 2016-07-14
Type of information: Publication of results in a medical journal
phase: registry study
Announcement: publication of results in the Proceedings of the National Academy of Sciences of the United States of America (PNAS)
Company: Myokardia (USA - CA)
Product:
Action mechanism:
Disease: hypertrophic cardiomyopathy
Therapeutic area: Cardiovascular diseases
Country:
Trial
details: SHaRe is a multi-center, international repository of clinical and laboratory data on individuals and families with genetic heart disease.
Latest
news: * On July 14, 2016, MyoKardia, announced the publication of an article in the Proceedings of the National Academy of Sciences of the United States of America. The article is the first to examine data from SHaRe, or the Sarcomeric Human Cardiomyopathy Registry, and demonstrates the power of combining clinical, genetic and structural data to gain insight into hypertrophic cardiomyopathy. SHaRe is a multi-center, international repository of clinical and laboratory data on individuals and families with genetic heart disease. MyoKardia helped form the registry in 2014. This study compares the protein structural locations of genetic variants in myosin from patients with hypertrophic cardiomyopathy and the general population. In the course of the study, general methods were developed to interrogate the location of genetic changes in protein structures. These methods identified regions of the myosin protein that are enriched for disease-causing alterations, and the analyses suggest that variants in those regions lead to earlier onset of hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is the most common form of cardiomyopathy. The FDA has granted MyoKardia Orphan Drug Designation for MYK-461 for treatment of symptomatic obstructive hypertrophic cardiomyopathy. The published research represents the collaboration of scientists from MyoKardia, Stanford University, Brigham and Women’s Hospital and others. Multidimensional structure-function relationships in human ?-cardiac myosin from population-scale genetic variation was published online by PNAS on May 31 and appeared in the print edition in June. The findings were presented at the 2016 Society for Molecular Biology and Evolution Conference in early July.
