Jerry Vockley, Md, Phd

This study tests whether sodium phenylbutyrate, a drug already approved for another condition, can help people with MCAD deficiency—a genetic disorder that makes it hard to break down fats for energy. About 24 participants aged 10 and older will take the drug for 4 weeks. Researc…

This study tests a drug called triheptanoin in 8 adults with MCADD, a rare genetic condition that can cause dangerously low blood sugar. The drug is already approved for a similar disorder. Researchers want to see if it is safe and can prevent hypoglycemia during fasting. Partici…

This study looks at whether whole genome sequencing (a complete read of a person's DNA) can diagnose genetic diseases in newborns in intensive care more quickly than standard tests. About 400 newborns with suspected genetic conditions will take part. The goal is to see if faster …