While animal models enable careful tests of the addition or withdrawal of a gene, the relevance of individual models to human disease can often be unclear. Humans are a great model organism: inheritance of genetic variants (differences in DNA sequence) can facilitate tests of the direct relevance of a gene to human physiology. Because the genetic background is so variable from person to person, precise readouts from high-resolution phenotyping are required to discern signal from noise. Below are a sample of human trials that we are undertaking.
1. Genetic predictors of QT prolongation with anti-arrhythmics. By physician referral (2013P001851, Newton-Cheh). Clinicaltrials.gov link
2. Genetics of cardiotoxic drug response. By invitation based on genotype (2013P001629, Newton-Cheh). Clinicaltrials.gov link
3. A registry to determine the clinical and genetic risk factors for torsade de pointes. By physician referral (2013P001531, Newton-Cheh). Clinicaltrials.gov link
Blood pressure related
4. A study of the influence of sGC genotypes on response to inhaled nitric oxide in healthy volunteers. By invitation based on genotype (2010P002807, Newton-Cheh).
5. Cardiovascular Biorepository (CVBio) in collaboration with the Partners Biobank. By physician referral for dilated cardiomyopathy and other cardiovascular diseases (2015P000793, Newton-Cheh).
6. Dilated Cardiomyopathy (DCM) Precision Medicine study in collaboration with Dr. Ray Hershberger (Ohio State University). DCM patients of European (white) or African (black) ancestry and their first-degree relatives (parents, siblings, children) by physician or patient self-referral. Read more here
All studies are currently active and recruiting participants as of Spring 2016.