Researchers from Utrecht University Department of Chemistry, Pharmaceutical Company Galapagos and the Dutch Cystic Fibrosis Foundation (NCFS) have jointly performed a project to better understand the disease mechanisms of Cystic Fibrosis, and the mode of action of new candidate drugs being developed by Galapagos, in order to bring better drugs faster to patients with CF.

Cystic Fibrosis (CF) is a genetic disease (more than  100.000 patients worldwide) and is caused by a defect in a protein (CFTR). Each protein in our body is a chain of amino acids that must be properly folded in the cell to perform optimally. That folding of the CFTR protein is a complicated process. In many patients with CF this folding process is impaired and therefore an effective protein cannot be produced. This is disrupting the salt and water resources in all cells that produce mucus and hence tough slime is created.

Recent research results show that the basic defect in the cells in CF can be tackled with medicines. Because the current medications are insufficiently working or only working for a group of patients with specific abnormalities in the genetic material (mutations), Galapagos is one of the companies developing candidate medicines to target these basic defects. By using the techniques that have been developed by the Lab of Professor Ineke Braakman to study the mode of action of the Galapagos candidate drugs, this project has gained much more insights into the basic defect in the cell at different mutations, how candidate medicines of Galapagos are acting thereon and how the cells and auxiliary proteins respond to them. These results shall be used in the further development of the best candidate medicines by Galapagos and other companies. In already granted follow-up projects the same consortium partners will further unravel the mechanism of the folding of the protein and how to improve this in order to contribute to the ultimate objective: a cure for people with CF.

Life-long treatment adherence is a major challenge for patients with a chronic disease such as an hiv infection and even more so for children and adolescents. Treatment support via self-management tools is promising in increasing treatment adherence, improving health and reducing co-morbidities, mortality and health-care related costs. In the Netherlands hundreds of hiv infected adolescents are treated with medication for their hiv infection.

The main goal and state-of-the art treatment for a hiv infection is a continuous life-long suppression of hiv that can be achieved by consequent daily intake of anti-hiv medication.

If the medication intake occurs on an irregular base, the hiv virus will become resistant to the used medication rapidly and alternative treatments are needed (which are limited in number). In practice it turns out to be very difficult for children and adolescents with hiv to sustain to this strict policy.

In this METT project, we will evaluate the use of a cloud-based medication management platform named Emma to increase treatment adherence in hiv-infected children and adolescents. Emma makes use of sending medication intake reminders via a smart-watch or a mobile phone. Via Emma users can create their self-chosen community (including family members, peers and friends) that has insight in the drug intake of the user and can support the user. It is this last feature of Emma that makes it unique from other non-personal support systems and has shown proven effectivity in adults with chronic illnesses such as hypertension.

This project serves as a pilot study and will be applied in a larger set of chronically ill adolescents (with chronic kidney disease, chronic lung diseases and diabetes). This project contributes to the goals of the Top Sector LSH as it facilitates solutions that enable chronically ill children and adolescents to become and remain independently functioning, maintain health, prevent hospital admittances, co-morbidities and subsequent health care and to manage health extra-murally by stimulating self-management via a highly innovative e-health digital solution. For this (pilot) study, a new collaboration has been initiated between the AMC and Medicine Men as partners. The AIDS fonds is a full collaborator in this project, and supports this project.  In summary, this project facilitates close collaboration between public, commercial and private sectors that aims to improve this widely occurring health care problem and that has the potential to be exemplary for improvement of self-management of other chronic diseases.