New treatment for rare disease will help children

One out of 10 000 children all over the world is born with the rare metabolic disorder phenylketonuria (PKU). Researchers from Bergen develops a treatment against the disorder, and their research are promising.

Phenylketonuria (PKU), called “Føllings sykdom” in Norwegian, is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. There is no cure for the disease, and it is usually treated with a strict, lifelong diet. If the disease stays untreated, it might lead to severe physical and psychological disability, including seizures, behavioural problems and mental disorders. At least 500.000 people in the world are living with PKU.

Professor Aurora Martinez and her research team at University of Bergen (UiB) have for several years worked on finding a treatment against PKU by correcting effects in the enzyme. The treatment they are developing can improve the patient’s life quality considerably, and they believe they can help at least 50% of the patients. Professor Martinez emphasizes that the medication they are developing does not represent a permanent cure for the disorder, but it is advantageous compared with the present treatment. The researchers are mainly focusing on a treatment for PKU, but their work can be transferred to other genetic disorders.

– The diet is helping many of the patients, but it is not perfect and does not ensure a good life for everyone. Our objective is to find a treatment that works alone or in combination with a more relaxed diet, and can increase the patient’s life quality, says Professor Martinez.

In 2015, BTO established the company Pluvia in cooperation with the research team and University of Bergen. The company’s objective is to develop the new treatment for PKU and other rare disorders. BTO is working closely with the project, including coordination of the research, business development and external support. Together with the research team, BTO has also secured the IP in the project and applied for a patent. In 2015, the project received funding through the FORNY2020-program at the Research Council of Norway. At a very early stage, in 2011, the project also received a stipend from Novo Seeds.

We are currently looking for collaborative partners for pre-clinical and clinical studies.

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