UHB recruits first patient in world to a pioneering gene therapy trial

14 October 2020

The first person to take part in a industry-sponsored BMN 307 gene therapy study for Phenylketonuria (PKU) has been recruited at University Hospitals Birmingham NHS Foundation Trust (UHB).

The PHEARLESS study aims to investigate if a gene therapy could help people with phenylketonuria (PKU), a rare genetic disease that makes it difficult for individuals to break down Phe.

Patients taking part in the trial will receive a correct copy of the PAH gene into their liver cells. It is hoped this will help to restore natural Phe metabolism, which would allow those with PKU to resume a normal diet.

“More than 70 years ago, the first child was treated for PKU in the United Kingdom at Birmingham Women’s and Children’s Hospital.  Today, we continue to make strides in PKU treatment through the clinical study of a gene therapy for PKU,” said Dr Tarek Hiwot, UHB Consultant in Inherited Metabolic Disorders and principal investigator for the PHEARLESS study.

“There is a tremendous unmet need for PKU patients. As a treating physician, it is important to me to be involved in clinical research to evaluate innovative therapies that have the potential to change the treatment paradigm in PKU for good.”

If left untreated, high levels of Phe can become toxic to the brain and affect the way a person thinks, feels and acts. Patients with PKU are advised to follow treatment guidelines to maintain control of their Phe levels.

“BioMarin has been committed to the PKU community for more than 15 years and remains dedicated to the research and development of innovative therapies to advance the standard of care for people with PKU,” said Hank Fuchs, M.D., President, Worldwide Research and Development at BioMarin.

“Building upon our experience of delivering two approved PKU therapies to the PKU community, BMN 307 gene therapy combines BioMarin’s leadership in the development of PKU therapies with our expertise in gene therapy development and manufacturing.”

Gene therapies aim to address genetic problems by adding a normal copy of a defective gene to a person’s body, with the hope that cells can use the information from the normal gene to reduce or eliminate the negative effects of the defective gene.