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. A study of common variation at the NPPA/B locus and the natriuretic peptide response to saline infusion. Open to healthy volunteers via QTstudies@partners.org, interventional study by invitation based on genotype (2009P001200, Newton-Cheh).
6. Cardiovascular Biorepository (CVBio) in collaboration with the Partners Biobank. By physician referral for dilated cardiomyopathy and other cardiovascular diseases (2015P000793, Newton-Cheh).
All studies are currently active and recruiting participants as of Spring 2016.