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, behavioral 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 have developed 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 based on small compounds called pharmacological chaperones does not represent a permanent cure for the disorder, but it is advantageous compared with the present treatment.
– 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 optimal alone or in combination with a more relaxed diet, and can increase the patient’s life quality, says Professor Martinez.
– We still have a long way to go before we reach the pre-clinical stage, but the results so far are promising and I hope that we will see new pharmacological chaperones that are soluble, effective and specific, she continues.
The researchers’ are mainly focusing on a treatment for PKU, but their work can be transferred to other genetic disorders.
Spin-off from UiB
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.
– This project is highly interesting because it uses the concept of pharmacological chaperones, which have rarely been used in drug development before. It is a door opener for the development of new cures for many genetic disorders, says Anne-Sophie Schillinger, Business Developer in BTO.
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 Norwegian Research Council. At a very early stage, in 2011, the project also received a stipend from Novo Seeds.
Investors are showing increasingly interest in the company. Pluvia has received 8.5 million NOK in investments in 2016 and 2017. BTO invested 2.5 million through the pre-seed program over two years. Read more about the pre-seed funding here and here.The investors also include Bergen Forskningsstiftelse (2.5 million NOK), Sarsia Seed (2.5 million NOK) and Investinor (1 million NOK).
PKU and other similar types of rare genetic disorders have attracted a lot of attention in from patient organizations and general public lately. Growing interests will boost research and development on rare diseases.
Pluvia and University of Bergen will continue to work on boosting the internal research and development on rare disorders, with the objective to give patients a prospect for a normal life.