Edition of 29 April 2022

EURORDIS has published a report following the High-level Ministerial Conference: Care and innovation pathways for a European rare diseases policy held on Rare Disease Day 2022 in the framework French Presidency of the Council of the European Union. The conference was held in Paris and was attended by 150 participants, including 12 Member State Ministries of Health. The aim of the conference was to develop policy recommendations in the field of rare diseases in order to build a coherent European action. The report includes quotes from participants highlighting the importance of a coordinated strategy for rare diseases, such as Olivier Veran’s statement that “Together, we will achieve our commitment to leave no one behind by 2030 so that every EU citizen facing rare diseases can be guaranteed the same opportunities wherever they live in the EU.”

The importance of a renewed strategy for rare diseases at the European level was stressed, building upon the Rare 2030 Recommendations and the recent UN Resolution on Addressing the Challenges of Persons Living with a Rare Disease, adopted by the General Assembly in December 2021. A comprehensive strategy would improve sharing of information, data and knowledge among Member States and improve equity between the European population for access to diagnosis and treatment. Orphanet’s role in providing information and knowledge on rare diseases was praised, and the need for the network to be able to generate and exploit accurate data was stressed. Existing and future areas of cooperation, including the ERNs and the European Health Data space were also encouraged.

 Participants also focused on the situation in Ukraine and showed their support for the most vulnerable population, including those living with a rare disease. EURORDIS committed to support Ukrainians living with a rare disease who were forced to flee to neighbouring countries, as well as those who remained in the country.

The ECRD, to be held from 27 June to 1 July 2022, will be another unique opportunity for stakeholders to further discuss the steps to be taken for a European Action Plan on rare diseases.

A new study has been published in the Frontiers in Public Health journal assessing the level of awareness and knowledge of rare diseases among medical students and healthcare professionals in the Republic of Kazakhstan. The study provides an overview of national measures dedicated to rare disease patients in the country while showing the results of a questionnaire dedicated to medical students and physicians on the issues. The study reveals that while the vast majority of medical students and healthcare professionals encountered with the notion of rare diseases during their studies or their career path, their knowledge on the prevalence and incidence of rare diseases in the country and worldwide are particularly low. Their awareness on the existence of a registry for rare disease patients in Kazakhstan was also critically low, as well as with regards to rare disease treatments and costs. The study thus reveals the need to reinforce medical training and knowledge on rare diseases and orphan drugs in the country in order to improve management and care for patients. The study also calls for a specialised unit within the Ministry of Healthcare for rare diseases and orphan drugs in order to develop the necessary legislation benefiting patients.

A new study has been published in the Orphanet Journal of Rare Diseases presenting the consequences of Classic Galactosemia on the daily lives of patients and their caregivers. The study shows that the symptoms induced by Classic Galactosemia such as memory difficulties, tremors and poor eyesight represent a high burden on the daily lives of patients. The disease also impacts their social lives, with patients experiencing isolation and difficulties in their work environment. The study also reveals the lack of independence of the patients, who mainly live with their families and caregivers and with Classic Galactosemia symptoms requiring more support as they age.