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Rare bleeding disorders are caused by genetic mutations in the genes required for blood coagulation. Haemophilia A and B are caused by deficiencies of factor VIII (FVIII) and factor IX (FIX), respectively. Together, they have a prevalence of 1 in 3333 at birth. 1 Diagnosis and treatment vary widely throughout the world, mostly reflecting the socioeconomic status of the countries. In low-income countries, most patients are undiagnosed, and many die prematurely due to the lack of treatment.

This is the first published report of the incidence of unexpected DBMV among healthy pediatric patients.

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In this first in a series of round table meetings, the 1st World Federation of Hemophilia Gene Therapy Round Table was convened to initiate a global dialogue on the expected challenges and opportunities that a disruptive therapy, such as gene therapy, will bring to the haemophilia community. Perspectives from key stakeholder groups, including healthcare professionals, regulators, payors, people with hemophilia and pharmaceutical industry representatives, were sought in the identification of the key issues we expect to face. Didactic presentations and open discussion covered the clinical development of gene therapy in haemophilia; regulatory perspectives of gene therapy; making informed decisions; accessibility, affordability and pricing of gene therapy; and ethical issues of gene therapy clinical trials. These were followed by small group work. This manuscript outlines the key issues identified and the path forward.

Background: Gene therapy for people with hemophilia (PWH) will soon become available outside current clinical trials. The World Federation of Hemophilia (WFH), in collaboration with International Society of Thrombosis and Hemostasis Scientific and Standardization Committee (ISTH SSC), the European Haemophilia Consortium (EHC), the US National Hemophilia Foundation (NHF), the American Thrombosis and Hemostasis Network (ATHN), industry gene therapy development partners and Regulatory liaisons have developed the Gene Therapy Registry (GTR), designed to collect long-term data on all PWH who receive hemophilia gene therapy. Objective: The objectives of the GTR are to record the long-term safety and efficacy data post gene therapy infusion and to assess the changes in quality of life and burden of disease post-gene-therapy infusion. Methods: The GTR is a prospective, observational, and longitudinal registry developed under the guidance of a multi-stakeholder GTR Steering Committee (GTR SC), composed of health care professionals, patient advocates, industry representatives, and regulatory agency liaisons. All PWH who receive gene therapy by clinical trial or commercial product will be invited to enrol in the registry through their hemophilia treatment centers (HTCs). The registry aims to recruit 100% of eligible post gene therapy PWH globally. Through an iterative process, and following the guidance of the European Medicines Agency (EMA) and the US Food and Drug Administration (FDA), the GTR SC has developed a core set of data to be collected on all patients post gene therapy. Results: The core data set includes demographic information, vector infusion details, safety, efficacy, quality of life and burden of disease. | 3075 KONKLE Et aL.

The FC and EC adaptations of the CAMPHOR have been shown to be reliable and valid for measures of health-related QoL and QoL in PAH, and thus can be recommended for use in clinical studies and routine practice in PAH.