Jerry Vockley, Md, Phd

This study tests a drug called ACER-001 (sodium phenylbutyrate) in a single patient with combined D,L-2-hydroxyglutaric aciduria, a rare genetic disorder that causes brain damage and seizures. The goal is to see if the drug is safe and can lower harmful acid levels in the body. R…

This study tests whether sodium phenylbutyrate, a drug already approved for another condition, can help people with MCAD deficiency (a genetic disorder that affects fat breakdown). About 24 participants aged 10 and older will take the drug for 4 weeks. Researchers will check for …

This study looks at whether whole genome sequencing can help doctors diagnose genetic disorders faster in newborns admitted to intensive care. Researchers will compare the time to diagnosis and care costs for 400 infants who receive this advanced genetic test versus standard test…

This study tests a drug called triheptanoin in 8 adults with MCADD, a rare condition that can cause dangerously low blood sugar. The goal is to see if the drug is safe and can prevent hypoglycemia during fasting. Participants will stay overnight at a hospital for monitoring and b…