A potential treatment for phenylketonuria has progressed to clinical trial stage and the first patient has been dosed, reports Business Wire. This follows successful trials of the drug in non-human studies.
Phenylketonuria (PKU) is an inherited condition that prevents the body from breaking down Phe, a molecule found in dietary protein. If left untreated Phe will build up to toxic levels that result in intellectual disability. PKU affects approximately 16,500 people in the US. Its underlying cause is a mutation to the gene that codes for phenylalanine hydroxylase (PAH), a liver enzyme that breaks down Phe. This mutation prevents the enzyme from functioning properly and so Phe collects in the brain and blood.
Current treatment options for people with PKU are limited. The main method of regulating Phe levels is an extremely strict diet that cuts out all foods containing Phe and replaces protein with special Phe-free supplements. There is one medication called Kuvan, but it is only available to some patients, and a strict diet still needs to be followed while taking it. There is therefore a significant unmet patient need for a treatment that will work effectively, safely, and remove the need for such careful food control.
