European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria
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| Formation | 1987 |
|---|---|
| Founded at | Belgium |
Membership | 41 |
Volunteers | 10 |
| Website | espku |
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.
Organization
[edit]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
[edit]Benchmark report
[edit]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.[citation needed]
Consensus paper
[edit]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
[edit]The consensus paper was picked up by the Scientific Advisory Committee of the E.S.PKU. The SAC launched an expert group, the creation 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
[edit]The International PKU Day was launched in 2013 and is taking place on 28 June 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 28 June 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
[edit]To highlights certain aspects of the Phenylketonuria treatment and to raise public awareness, the E.S.PKU produces films / documentations.
| 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
[edit]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
[edit]- ^ "Congrès de l'ESPKU : témoignage de Véronique Berthe-Dequin". Les Feux Follets (in French). Retrieved 2018-11-20.
- ^ 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. S2CID 3350900.
- ^ "Phenylketonuria Round Table at the EU Parliament - MetabERN". MetabERN. 2018-07-13. Retrieved 2018-11-20.
- ^ "Perspective interview - Eric Lange |". www.excemed.org. Retrieved 2018-11-20.
- ^ "Benchmark Report - E.S.PKU". E.S.PKU. Retrieved 2018-11-20.
- ^ "PKU patients in UK suffer continued "gap" in care by inadequate access to treatment". blog.phedup.co.uk. Retrieved 2018-11-21.
- ^ Team, EU Agenda. "E.S.PKU Benchmark Report-Closing the Gaps in Care". EU Agenda. Retrieved 2018-11-20.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ "Maternal PKU - Why I'm Having A Burrito Delivered To The Labour Ward". HuffPost UK. 2017-06-28. Retrieved 2018-11-20.
- ^ "Happy Birthday Dad!". Robert Guthrie Foundation. 2016-06-28. Retrieved 2018-11-20.
- ^ E.S.PKU (2016-06-27), The forgotten children, retrieved 2018-11-20
- ^ E.S.PKU (2018-09-01), The legacy of Professor Horst Bickel, retrieved 2018-11-20
- ^ Faiella, Maria Giovanna. "Fenilchetonuria, la sfida di Veronica, Giulia e gli altri, diventati adulti". Corriere della Sera (in Italian). Retrieved 2018-11-20.