Clinical Studies

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.

QT/Arrhythmia related
1.  Genetic predictors of QT prolongation with anti-arrhythmics. By physician referral (2013P001851, Newton-Cheh). link
2.  Genetics of cardiotoxic drug response.  By invitation based on genotype (2013P001629, Newton-Cheh). link
3.  A registry to determine the clinical and genetic risk factors for torsade de pointes.  By physician referral (2013P001531, Newton-Cheh). 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, interventional study by invitation based on genotype (2009P001200, Newton-Cheh).

Cardiovascular Biorepository
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.