Rare Disease Access to Care Campaign, 2025

Rare Disease Access to Care Video

A presentation on rare disease access to care delivered by Philippe Pakter, Chairman and General Counsel of Pierre Robin Europe Foundation at an international medical conference.

Preliminary Reference for the Court of Justice of the European Union

Preliminary Reference for the Court of Justice of the European Union

This document addresses rare disease patients, access to care, EU law, and human rights. The goal of this lawsuit is to bring about an important and long overdue change in EU law: to facilitate access to care for millions of rare disease patients, all across Europe. We submitted this legal document to a French national court; we then asked the French national court to present it to the Court of Justice of the European Union.

Amicus Briefs

An amicus brief is a letter which is submitted to a court by an outside party, which provides that outside party’s analysis of the case.

An “amicus brief” is a letter which is submitted to a court by an outside party, which provides that outside party’s analysis of the case. The following amicus briefs have already been submitted to the court. Additional amicus briefs will be posted on this page, as they are submitted.

Dr. Barend van Leeuwen, Professor of European Union Law, Durham University Law School. Download the amicus brief from Professor Barend van Leeuwen



Dr. Holm Graessner, Managing Director, The Centre for Rare Diseases at the Tübingen University Hospital; Coordinator, The European Reference Network for Rare Neurological Diseases (ERN-RND). Download the amicus brief from Dr. Holm Graessner



Dr. André den Exter, Universitair hoofddocent Gezondheidsrecht (Associate Professor of Health Law), Erasmus University Rotterdam, Erasmus School of Law. Download the amicus brief from Professor André den Exter

Published Articles

Ms. Kumsal Bayazit, the CEO of Elsevier, personally provided us with Gold Open Access on both of these articles. We thank Ms. Bayazit for her exceptional leadership, her commitment to the rare disease community, and her genuine kindness.

Rare disease care in Europe – Gaping unmet needs

 

A parent’s view on the care of their baby with Robin sequence

  • “A parent’s view on the care of their baby with Pierre Robin Sequence”, an article published in the Elsevier journal, Seminars in Fetal and Neonatal Medicine. Open Access; free to download

The Tübingen Palatal Plate – Info for Clinicians, and for Parents

The Tübingen Palatal Plate, a non-surgical orthodontic treatment for babies diagnosed with the rare disease, Pierre Robin Sequence

 

Pierre Robin Europe was contacted by a couple whose baby was diagnosed with the rare disease, Pierre Robin Sequence. The couple wanted their baby to undergo the Tübingen Palatal Plate treatment in Germany. This document, which is referred to as an “S2 application”, compares the Tübingen Palatal Plate treatment with other treatments. Download in English, as a Word document, which you can customize

 

Medical studies on the Tübingen Palatal Plate, which were submitted together with the couple’s S2 application. Download in English

 

 

Rare Disease Patient Journey

Letter to French President Emmanuel Macron

Contact Us

Contact us if you are interested in helping us to facilitate access to rare disease care.