ERN EuroBloodNet

PURPOSE OF REVIEW: The aim of this study was to highlight the diagnostic and management challenges of primary vitreoretinal lymphoma (PVRL) through a review of the literature and a European survey on real-life practices for PVRL. RECENT FINDINGS: The care of PVRL patients is heterogeneous between specialists and countries. Upfront systemic treatment based on high-dose methotrexate chemotherapy, with or without local treatment, might reduce or delay the risk of brain relapse.Ibrutinib, lenalidomide with or without rituximab, and temozolomide are effective for patients with relapsed/refractory PVRL and should be tested as first-line treatments. SUMMARY: The prognosis of PVRL remains dismal. No firm conclusion regarding optimal treatment can yet be drawn. The risk of brain relapse remains high. Diagnostic procedures and assessment of therapeutic responses need to be homogenized. Collaboration between specialists involved in PVRL and multicentric prospective therapeutic studies are strongly needed. The recommendations of the French group for primary oculocerebral lymphoma (LOC network) are provided, as a basis for further European collaborative work.

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.

BACKGROUND: Sickle cell disease (SCD) is an inherited chronic life-threatening disorder with increasing prevalence in Europe. People living with SCD in Europe mainly belong to vulnerable minorities, have a lower level of health education and suffer from isolation compared to those living with other chronic conditions. As a result, SCD patients are much less likely to partner in the design of research related to their condition and are limited in their ability to influence the research agenda. Aiming to increase the influence of patient voice in the development of SCD-related research, we set out to develop patient centered actions in the frame of International Scientific Conferences in collaboration with the ERN-EuroBloodNet, Oxford Blood Group, Annual Sickle Cell Disease and Thalassaemia Conference (ASCAT), the European Hematology Association and the British Society of Hematology. RESULTS: Two events were organized: a one-day research prioritization workshop and a series of education sessions based on topics chosen by SCD patients and their families. Methodology and outcomes were analyzed in terms of influence on scientific, medical and patient communities. CONCLUSION: The ERN-EuroBloodNet workshops with patients at annual ASCAT conferences have provided an opportunity to enhance patient experience and empowerment in SCD in Europe, producing benefits for patients, caregivers, patient associations and health professionals. Future work should focus on delivering the research questions identified at this workshop and the opportunities to share information for patient education.

ABSTRACT Introduction Adult patients with sickle cell anemia (SCA) are at high risk for atrial arrhythmias; however, data on the outcomes of atrial fibrillation (AF) ablation in this population are scarce. Methods and Results Eight consecutive SCA patients undergoing AF ablation in three tertiary ablation centers were retrospectively included (6 males, mean age 46 ± 9 years). Patients exhibited severe left atrial (LA) remodeling (mean indexed LA volume 71 ± 14 mL/m 2 ) and six presented with persistent AF. Ablation techniques included radiofrequency (RF, n = 6), cryoballoon ( n = 1), and pulsed‐field ablation (PFA, n = 1). Three patients received additional LA lesions beyond pulmonary vein isolation. At 12 months, seven patients (88%) were free from any atrial arrhythmia, with 88% off antiarrhythmic therapy, and NYHA class significantly improved from 2.00 ± 0.93 to 1.38 ± 0.52 ( p = 0.049). No major complications were reported following RF ablations. The cryoballoon case was complicated by an acute chest syndrome, while moderate hemolysis occurred following PFA, without clinical consequence. Conclusion AF catheter ablation appears effective in SCA patients. While RF ablation showed a reassuring safety profile, specific risks associated with cryoballoon and PFA warrant further investigation.

The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

The ERICA Patient Reported Outcome Measures (PROMs) Repository is the first attempt to identify and centralize Clinical Assessment Outcomes questionnaires of relevance for rare diseases and constitutes a milestone in the Europe-wide standardization of Patient-Centered Outcome Measures (PCOMs) and PROMs for rare diseases. It has been made possible through the joint collaboration between Orphanet, Mapi Research Trust/ICON and ERN EuroBloodNet (VHIR, APHP), and the active contribution of ERNs and ePAGs. Available at ERICA website: ERICA PROMs Repository

The ERICA Patient Reported Outcome Measures (PROMs) Repository is the first attempt to identify and centralize Clinical Assessment Outcomes questionnaires of relevance for rare diseases and constitutes a milestone in the Europe-wide standardization of Patient-Centered Outcome Measures (PCOMs) and PROMs for rare diseases. It has been made possible through the joint collaboration between Orphanet, Mapi Research Trust/ICON and ERN EuroBloodNet (VHIR, APHP), and the active contribution of ERNs and ePAGs. Available at ERICA website: ERICA PROMs Repository