Disease: Phenylketonuria, PKU, (NCT04768348)

Phenylketonuria (PKU) is an inherited metabolic disorder caused by an absence or deficiency of the enzyme phenylalanine hydroxylase (PAH). The disorder is easily detectable via routine newborn screening and treatment usually begins immediately.

PAH is responsible for processing the enzyme phenylalanine, one of the amino acids vital for normal growth and development. In individuals with PKU, PAH fails to convert phenylalanine into tyrosine leading to an accumulation of toxic phenylalanine in the blood and brain. The direct toxic effect of phenylalanine can lead to severe intellectual disability and other symptoms.

Homology Medicines, Inc

United States, California Los Angeles, California, United States, 90027 Recruiting Kaiser Permanente Los Angeles Medical Center

United States, California Orange, California, United States, 92868 Recruiting Children's Hospital of Orange County

United States, Florida Tampa, Florida, United States, 33606 Recruiting University of South Florida

United States, Georgia Atlanta, Georgia, United States, 30322 Recruiting Emory University Hospital

United States, Indiana Topeka, Indiana, United States, 46571 Recruiting Community Health Clinic

United States, Pennsylvania Pittsburgh, Pennsylvania, United States, 15224 Recruiting University of Pittsburgh Medical Center- CHOP

United States, Texas Dallas, Texas, United States, 75390 Recruiting UT Southwestern Medical Center

United States, Utah Salt Lake City, Utah, United States, 84018 Recruiting University of Utah Health