One of the most important jobs of the EU’s European Reference Network (ERN) system is to create evidence-based Guidelines of care for the diagnosis and treatment of rare diseases. These EU Guidelines should be written by the very best rare disease experts across the EU.
Erasmus Rotterdam Medical Center, which is in charge of ERN-Cranio, has taken the lead in an ERN Guidelines development project. These will be the world’s first international Guidelines for a rare disease called Pierre Robin Sequence. Pierre Robin Sequence is characterized by significant morbidity, significant mortality, heterogeneity, and a high level of associated conditions – over half of the babies born with Pierre Robin Sequence also suffer from another rare disease, making treatment more difficult. Pierre Robin Sequence is a complex rare disease.
And yet Erasmus Rotterdam is not an Orphanet Center of Expertise for Pierre Robin Sequence. A hospital which is not a Center of Expertise for a rare disease should not be drafting ERN Guidelines for that rare disease.
Two of the EU’s most most highly respected Orphanet Centers of Expertise for Pierre Robin Sequence are the Amsterdam University Medical Center, and the Tübingen University Hospital. The volume of internationally peer-reviewed Pierre Robin Sequence medical studies which these two Orphanet Centers of Expertise have published is more extensive than any other Pierre Robin Sequence Centers of Expertise in the world. The director of Amsterdam’s Pierre Robin Sequence Center of Expertise has published 29 Pierre Robin Sequence studies, and launched the world’s first International Consensus Meeting on Pierre Robin Sequence.
The director of Tübingen’s Pierre Robin Sequence Center of Expertise has published 22 Pierre Robin Sequence studies, and is currently running the world’s third International Consensus Meeting on Pierre Robin Sequence.
These two world-class experts on Pierre Robin Sequence are the exact people you’d want to bring in when drafting Guidelines of care for this complex rare disease. However Erasmus Rotterdam, which is not a Center of Expertise for Pierre Robin Sequence, decided to exclude both of these two hospitals from the Pierre Robin Sequence Guidelines development group. To get a sense of what this means, imagine the following comical scenario. Imagine if the European Commission decided to fund an official EU project to create Guidelines for the production of top quality sparkling wine in Europe – and the lead party in charge of drafting the Guidelines decided to exclude from the drafting group any producers based in the Champagne region of France.
It is difficult to avoid the impression that Erasmus Rotterdam is running this EU-funded ERN Guideline development project based on relationships and politics, rather than on experience and expertise.
The fundamental spirit of the EU’s ERN system is supposed to be one of cooperation and pooling of rare disease knowledge and expertise, among the top rare disease experts in the EU. The closed shop environment which Erasmus Rotterdam has maintained throughout this entire EU-funded project ignores this essential spirit. At this point two of the most highly regarded Pierre Robin Sequence Centers of Expertise in Europe, indeed two of the most highly regarded Pierre Robin Sequence experts in the world, have simply given up trying to contribute at all. The inevitable result: sub-standard ERN Guidelines. Who pays the price: newborn babies suffering from a complex rare disease.