European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria

The European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU) is a Europe-based non-profit organization. It was founded in 1987 by patient-driven associations to help improve the treatment of phenylketonuria (PKU) in Europe.

European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria
Formation1987
Founded atBelgium
Membership
41
Volunteers
10
Websiteespku.org

Organization

The E.S.PKU has 41 member organizations from across Europe. One of the later countries to join was the French association Les Feux Follets[1] in 2013. A member organization has to be a non-profit organization on a national level dealing with phenylketonuria patients. The E.S.PKU executive board is elected by the annual general meeting every three years and consists of volunteers. The Scientific advisory committee oversees projects like the European Guidelines and collects data[2] to support studies in the field of phenylketonuria.

Besides the political work (such as METAB-ERN[3] or EXCEMED[4]) on European level the E.S.PKU hosts an annual conference.

Projects

Bechmark report

The E.S.PKU benchmark report[5] assesses the differences in care across Europe and provides a starting point for the E.S.PKU to improve any gaps in care that have been identified.[6] In consequence the delegates decided that action is required to improve this situation. The report was presented[7] at the European Parliament. To underline this effort the consensus paper was written.

Consensus paper

In 2013 the E.S.PKU delegates launched a paper[8] describing the needs for a better and equal treatment across Europe. This paper subsequently lead to the first European Guidelines for Phenylketonuria.

European guidelines for phenylketonuria

The consensus paper was picked up by the Scientific Advisory Committee of the E.S.PKU. The SAC launched an expert group the create the first European Guidelines for Phenylketonuria. This led to the first publication of the key statements[9] in the lancet diabetes and endocrinology. By the end of the year the complete guidelines[10] were published in the Orphanet Journal of Rare Diseases. The publication also received some critical attention[11] from other medical professionals. A second version of the guidelines is already been worked on.

International PKU Day

The International PKU Day was launched in 2013 and is taking place on June 28 every year. It was inspired by the Rare Disease Day and should increase the awareness for Phenylketonuria to get featured in news.[12] This date was chosen because of the birthdays of both Robert Guthrie (born June 28, 1916) and Horst Bickel (born 28 June 1918). As both of these people had a tremendous impact on the dietary treatment for Phenylketonuria the date proved to be the best option. In subsequence the Robert Guthrie Memorial site[13] was launched.

Documentations / films

To highlights certain aspects of the Phenylketonuria treatment and to raise public awareness the E.S.PKU produces films / documentations.

Films produced by E.S.PKU
Title Description Release Date
The forgotten Children[14] Documentation about untreated PKU patients 28.06.2016
The legacy of Horst Bickel[15] Documentation about Horst Bickel for his 100th birthday 28.06.2018

Annual conference

Every year the E.S.PKU and a member country host a conference. The conference takes place in a different country every year and typically has 450-550 participants. The conference takes place at the end of the year and starts on a Thursday ending on Sunday. There are three separate conference tracks for patients and families, professionals and delegates. The last conference took place in November and was located in Venice, Italy and got some media attention.[16]

References
  1. "Congrès de l'ESPKU : témoignage de Véronique Berthe-Dequin". Les Feux Follets (in French). Retrieved 2018-11-20.
  2. van Spronsen, F. J.; Ahring, K. Kiaer; Gizewska, M. (February 2009). "PKU-what is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders". Journal of Inherited Metabolic Disease. 32 (1): 58–64. doi:10.1007/s10545-008-0966-y. ISSN 1573-2665. PMID 19191005.
  3. "Phenylketonuria Round Table at the EU Parliament - MetabERN". MetabERN. 2018-07-13. Retrieved 2018-11-20.
  4. "Perspective interview - Eric Lange |". www.excemed.org. Retrieved 2018-11-20.
  5. "Benchmark Report - E.S.PKU". E.S.PKU. Retrieved 2018-11-20.
  6. "PKU patients in UK suffer continued "gap" in care by inadequate access to treatment". blog.phedup.co.uk. Retrieved 2018-11-21.
  7. Team, EU Agenda. "E.S.PKU Benchmark Report-Closing the Gaps in Care". EU Agenda. Retrieved 2018-11-20.
  8. Hagedorn, Tobias S; van Berkel, Paul; Hammerschmidt, Gregor; Lhotáková, Markéta; Saludes, Rosalia (2013). "Requirements for a minimum standard of care for phenylketonuria: the patients' perspective". Orphanet Journal of Rare Diseases. 8 (1): 191. doi:10.1186/1750-1172-8-191. ISSN 1750-1172. PMC 3878574. PMID 24341788.
  9. van Spronsen, Francjan J; van Wegberg, Annemiek MJ; Ahring, Kirsten; Bélanger-Quintana, Amaya; Blau, Nenad; Bosch, Annet M; Burlina, Alberto; Campistol, Jaime; Feillet, Francois (September 2017). "Key European guidelines for the diagnosis and management of patients with phenylketonuria". The Lancet Diabetes & Endocrinology. 5 (9): 743–756. doi:10.1016/S2213-8587(16)30320-5. ISSN 2213-8587. PMID 28082082.
  10. van Wegberg, A. M. J.; MacDonald, A.; Ahring, K.; Bélanger-Quintana, A.; Blau, N.; Bosch, A. M.; Burlina, A.; Campistol, J.; Feillet, F. (2017-10-12). "The complete European guidelines on phenylketonuria: diagnosis and treatment". Orphanet Journal of Rare Diseases. 12 (1): 162. doi:10.1186/s13023-017-0685-2. ISSN 1750-1172. PMC 5639803. PMID 29025426.
  11. Burgard, Peter; Ullrich, Kurt; Ballhausen, Diana; Hennermann, Julia B; Hollak, Carla E M; Langeveld, Mirjam; Karall, Daniela; Konstantopoulou, Vassiliki; Maier, Esther M (September 2017). "Issues with European guidelines for phenylketonuria". The Lancet Diabetes & Endocrinology. 5 (9): 681–683. doi:10.1016/S2213-8587(17)30201-2. ISSN 2213-8587. PMID 28842158.
  12. "Maternal PKU - Why I'm Having A Burrito Delivered To The Labour Ward". HuffPost UK. 2017-06-28. Retrieved 2018-11-20.
  13. "Happy Birthday Dad!". Robert Guthrie Foundation. 2016-06-28. Retrieved 2018-11-20.
  14. E.S.PKU (2016-06-27), The forgotten children, retrieved 2018-11-20
  15. E.S.PKU (2018-09-01), The legacy of Professor Horst Bickel, retrieved 2018-11-20
  16. Faiella, Maria Giovanna. "Fenilchetonuria, la sfida di Veronica, Giulia e gli altri, diventati adulti". Corriere della Sera (in Italian). Retrieved 2018-11-20.
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