Operationalising a Haemophilia Gene Editing Lexicon for Practical Use.

Introduction: Gene editing therapies offer the possibility of substantial improvement in treatment and quality of life for people with haemophilia (PWH) in a landscape of dynamic therapeutic advancement. Developing a common and understandable language to discuss gene editing will be essential to ensure these treatments can be deployed in a safe and effective manner with fully informed and shared decision-making between healthcare professionals (HCPs) and PWH. A lexicon explaining and clarifying key concepts is one potential tool to address these aims.

A novel gene editing lexicon strategy for the haemophilia community: Research plan for development and preliminary results.

Introduction: Despite the progress in gene editing platforms like CRISPR/Cas9 with the potential to transform the standard of care for haemophilia, the language used to explain and discuss gene editing is not aligned across the haemophilia community. Here, we present the objective and rationale for developing a clear, consistent, and globally aligned gene editing lexicon to address these communication gaps.

Methods: Effectively communicating complex gene editing concepts requires a clear and consistent vocabulary.

Clinical and Humanistic Burden of Non-inhibitor Haemophilia A in Five European Countries: Insights from the CHESS II Study.

Introduction: Haemophilia A (HA) is a congenital bleeding disorder caused by a deficiency/absence of factor VIII (FVIII) and characterised by frequent, acute and prolonged spontaneous or traumatic bleeding events, often leading to haemophilic arthropathy and progressive joint deterioration. HA severity is characterized by endogenous FVIII activity: mild (> 5-40%), moderate (1-5%), or severe (< 1%). HA poses a substantial clinical and socioeconomic burden on people with HA (PWHA), their caregivers, and society.

Noise versus signal: the clinical implications of an increasingly sensitive troponin assay for patients with suspected acute coronary syndrome.

Objectives: To evaluate the clinical impact of a troponin assay switch in suspected acute coronary syndromes (ACS).

Methods: Retrospective analysis of ACS cases in the 3 months before and after changing to a contemporary, higher sensitivity troponin assay. Admitting diagnosis, proportion with a positive result, initial treatment and testing, coronary artery intervention, inhospital events, and final discharge diagnosis were compared by assay group.