Genetic variant analysis indicated that over 70% of subjects had genotypes consistent with classical PKU, underscoring the treatment’s potential across different patient segments. Sepiapterin ...

PTC Therapeutics, Inc. (NASDAQ: PTCT) today shared new data being presented from the Phase 3 APHENITY trial and subsequent open-label extension study at the 2025 American College of Medical Genetics ...

Genetic variant analysis indicated that over 70% of subjects had genotypes consistent with classical PKU, underscoring the treatment’s potential across different patient segments. Sepiapterin, known ...

PTC Therapeutics (PTCT) shared new data being presented from the Phase 3 APHENITY trial and subsequent open-label extension study at the 2025 ...

A rare disease in the US is one in 1,500, or fewer than 200,000 people, and an ultra-rare disease is one in 50,000 or fewer than than 6,000 people.

A new study suggests early detection improves outcomes, but metabolic episodes in the first days of life still prove challenging.

Additionally, genetic variant analysis of subjects participating in the APHENITY study demonstrates that over 70 percent had a Genotype-Phenotype Value consistent with classical PKU. The ...

BioMarin (BMRN) announced positive new data from studies of Voxzogo in children with achondroplasia and in ongoing clinical trials ...

Phenylketonuria affects one in 25,000 newborns, as per data from Medline. Gene therapies are still not ready for a near possibility for several diseases within the group of conditions, says Dr. Hans ...

Phenylketonuria occurs when there is a mutation of the PAH gene, which produces the enzyme responsible for the breakdown of phenylalanine called phenylalanine hydroxylase. Without enough ...

Phenylketonuria, and Pompe Disease, among others. The NIMS Medical Genetics department was founded in 2008 as the second such department in a government institution in India. In recognition of its ...