Limited access to transcranial Doppler screening and stroke prevention for children with sickle cell disease in Europe: Results of a multinational EuroBloodNet survey.

BACKGROUND: Ensuring equitable access to adequate standard of care for patients with rare hematological disease is one of the aims of the European Reference Network (ERN) EuroBloodNet. Stroke is one of the most devastating complications for children with sickle cell disease (SCD). For effective prevention of stroke risk, annual transcranial Doppler (TCD) according to a defined protocol is recommended for patients aged 2-16 years, with red blood cell transfusion therapy for those at risk. There is no information regarding screening for stroke risk and stroke prevention programs in Europe. METHODS: Seven SCD experts of five healthcare providers (HCPs) of ERN EuroBloodNet developed an online survey to assess the access to TCD screening and stroke prevention programs for children with SCD in Europe. RESULTS: Eighty-one experts in 77 HCPs from 16 European countries responded to 16 online questions. Thirty-two of 77 (51%) HCPs were EuroBloodNet reference centers, and 36% physicians reported not having a dedicated TCD/TCD imaging service for children with SCD. Only 30% of physicians provided estimates that all their patients received annual TCD according to the standard protocol due to lack of trained staff (43%), lack of TCD instruments (11%), refusal of patients due to logistical difficulties (22%), and lack of funds for dedicated staff or equipment (11%). CONCLUSIONS: This multinational European survey provides the first comprehensive picture of access to TCD screening and stroke prevention in European countries. Identifying the potential underlying causes of the lack of effective standardized screening, this survey also addresses possible dedicated actions to cover these needs.

Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective.

Sickle cell disease is a hereditary multiorgan disease that is considered rare in the EU. In 2017, the Rare Diseases Plan was implemented within the EU and 24 European Reference Networks (ERNs) were created, including the ERN on Rare Haematological Diseases (ERN-EuroBloodNet), dedicated to rare haematological diseases. This EU initiative has made it possible to accentuate existing collaborations and create new ones. The project also made it possible to list all the needs of people with rare haematological diseases not yet covered health-care providers in the EU to allow optimised care of individuals with rare pathologies, including sickle cell disease. This Viewpoint is the result of joint work within 12 EU member states (ie, Belgium, Cyprus, Denmark, France, Germany, Greece, Ireland, Italy, Portugal, Spain, Sweden, and The Netherlands), all members of the ERN-EuroBloodNet. We describe the role of the ERN-EuroBloodNet to improve the overall approach to and the management of individuals with sickle cell disease in the EU through specific on the pooling of expertise, knowledge, and best practices; the development of training and education programmes; the strategy for systematic gathering and standardisation of clinical data; and its reuse in clinical research. Epidemiology and research strategies from ongoing implementation of the Rare Anaemia Disorders European Epidemiological Platform is depicted.

Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases - Is It Time to Update the EU's Orphan Regulation? And if so, What Should be Changed?

Since developments are global in the healthcare arena, more should be done to align EU and other big markets' regulatory practices for rare disease patients. Notwithstanding efforts and cooperation between the US and EU aimed to harmonize their strategic plans in the field of orphan drugs, regulatory criteria and procedures to gain the designation, terms and classifications should be still harmonised. Aligning the criteria of prevalence and support to orphan medicines in the various jurisdictions internationally, would facilitate patient recruitment eventually at global level, so as to gain the data and the biological insights required to identify biomarkers and appropriate endpoints needed for progressing clinical development. A conducive regulatory environment can further support the development of medicines to treat rare diseases. Overall there is a need for joined-up regulatory process coordination. Better integration of regulatory pathways and better integration of regulatory systems, such as scientific tools and methods to generate evidence, would be helpful. There is a need to revise and agree the current frameworks to be improved which will take into account the considerations and challenges to diagnose and treat different rare diseases and improve quality of life. Deliberative processes with multi-stakeholders' involvement for reimbursement should be considered. This paper explores the successes and limitation of both the regulation and its implementation mechanisms in the current regulatory context, and suggests some improvements that could maximise its benefits and boost rare disease research even further.

From ENERCA to the establishment of a European Reference Network of centres of expertise in Rare Hematological diseases: potential ethical issues impacting on its implementation

Due to the scarcity of patients and knowledge, rare diseases, affecting less than 1 in 2000 individuals, are the area in public health in which joint efforts among European Member States is most justified and crucial. The Directive 2011/24/EU on cross border health establishes the creation of European Reference Network (ERN) based on national recognized Centres of Expertise aiming to ensure the same level of access to health services of European citizens affected by a rare disease. Haematological diseases involve a large group of complex rare diseases affecting the normal process of blood cell growth and development. From these, rare anaemias are leading to chronic complications that severely undermine the quality of life of patients or lead to an early death. ENERCA, the European Network for Rare and Congenital Anaemias was established in 2002 and recognized by the EC as one of the ten pilots ERNs in 2008 for the tackle of rare anaemias (RAs) by promoting policies leading to reduce inequalities in the medical care across EU. Based on this networking experience, EuroBloodNet proposal was submitted to the first call for interest to establish a ERN launched by the EC last March 2016. The final outcome of EuroBloodNet is to guarantee that European citizens affected by a RHD benefit from the same level of highly specialised care, thereby improving their overall quality of life independently from the patient's country of origin or country of professional practice. In the process of development of an ERN such as EuroBloodNet, one of the main concerns is the legal issues that may arise when establishing cross border health services and ensuring their accessibility across the EU. Crucial fields requiring legal and ethical action have been identified within EuroBloodNet proposal as cornerstone for its success: Patients' rights and access to cross border health services, data protection and safe and security exchange of data, rights and duties of health professionals involved in cross border health services, health services suitable for reimbursement at the Member State level and the need of a pan European framework for the exchange of human samples for diagnosis and research

Debido a la escasez de pacientes y de conocimiento, las enfermedades raras, que afectan a menos de 1 de cada 2000 personas, son el área de la salud pública en la que el trabajo conjunto entre los Estados miembros de la UE está más justificada y resulta crucial. La Directiva 2011/24/UE sobre asistencia sanitaria transfronteriza establece la creación de una Red de Referencia Europea en base a los Centros nacionales reconocidas de referencia con el objetivo de garantizar el mismo nivel de acceso a los servicios de salud de los ciudadanos europeos afectados por una enfermedad rara. Las enfermedades hematológicas comprenden un gran grupo de enfermedades raras complejas que afectan el proceso normal de crecimiento de las células de la sangre y al desarrollo. De éstas, las anemias raras están dando lugar a complicaciones crónicas que socavan gravemente la calidad de vida de los pacientes o llevan a una muerte temprana. ENERCA, la Red Europea para la Anemia Rara y Congénita, fue fundada en 2002 y reconocida por la CE como una de las diez Redes piloto de Referencia Europeas en 2008 para tartar las anemias raras mediante la promoción de políticas que lleven a reducir las desigualdades en la atención médica en toda la UE. En base a esta experiencia en creación de redes, la propuesta EuroBloodNet se presentó a la primera convocatoria de interés para establecer una Red de Referencia Europea impulsada por la Comisión Europea en marzo de 2016. El propósito final de EuroBloodNet es garantizar que los ciudadanos europeos afectados por una Enfermedad Hematológica Rara se beneficien del mismo nivel de atención altamente especializada, mejorando así su calidad de vida en general independientemente del país de origen del paciente o de la práctica professional del país. En el proceso de desarrollo de una Red de Referencia Europea como EuroBloodNet, una de las principales preocupaciones es la referente a los problemas legales que pueden surgir cuando se establecen servicios de salud transfronterizos y cuando se garantiza su accesibilidad en toda la UE. Son áreas cruciales que requieren una acción legal y ética y que han sido identificadas dentro de la propuesta EuroBloodNet como piedra angular de su éxito: los derechos de los pacientes y el acceso a los servicios transfronterizos de salud, la protección de datos y el intercambio seguro y la seguridad de los datos, los derechos y deberes de los profesionales sanitarios implicados en los servicios de salud transfronterizos, servicios de salud adecuados para el reembolso en los Estados miembros y la necesidad de un marco paneuropeo para el intercambio de muestras humanas para el diagnóstico y la investigación