European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria

Did You Know?

• The annual conference takes place in a different country each year, typically with 450-550 participants, and runs from Thursday to Sunday.
• The last conference was held in Venice, Italy in November and received some media attention.
• The conference has three separate tracks: for patients and families, professionals, and delegates.

Organization

The E.S.PKU comprises 41 member organizations from across Europe, each a national non-profit focused on phenylketonuria patients. The French association Les Feux Follets joined in 2013. An executive board of volunteers is elected by the annual general meeting every three years. The Scientific advisory committee oversees projects such as the European Guidelines and collects data for PKU studies. The society also engages in European-level political work, including METAB-ERN and EXCEMED, and hosts an annual conference.

Projects

The E.S.PKU benchmark report evaluates differences in care across Europe and identifies gaps, serving as a basis for improvement. The report was presented at the European Parliament, and delegates decided action was needed, leading to a consensus paper. In 2013, E.S.PKU delegates issued a paper outlining the need for better and equal treatment across Europe, which led to the first European Guidelines for Phenylketonuria. The Scientific Advisory Committee formed an expert group that created these guidelines; key statements were published in the Lancet Diabetes and Endocrinology, and the complete guidelines appeared in the Orphanet Journal of Rare Diseases. The publication received critical attention from some medical professionals, and a second version is in development. International PKU Day, launched in 2013 and held on 28 June, was inspired by Rare Disease Day to raise awareness. The date was chosen because it is the birthday of Robert Guthrie (28 June 1916) and Horst Bickel (28 June 1918), both influential in dietary treatment for PKU. The Robert Guthrie Memorial site was subsequently launched. The E.S.PKU also produces films and documentaries to highlight aspects of PKU treatment and raise public awareness.