Accreditation model of European Haemophilia Centres in the era of novel treatments and gene therapy.

INTRODUCTION: The international certification of haemophilia centres in Europe is run by the European Association of Haemophilia and Allied Disorders (EAHAD) and European Haemophilia Consortium (EHC) since 2013. The centres are designated as European Haemophilia Comprehensive Care Centres (EHCCC) or European Haemophilia Treatment Centres (EHTC), based on the specific requirements which evaluate centres' ability to provide care for patients with haemophilia and allied disorders. AIM: To establish the new protocol for accreditation of European Haemophilia Centres. METHODS: EAHAD, in collaboration with EHC, established Accreditation Working Group with the aim to define necessary measures to safeguard quality and improvement of bleeding disorders care throughout Europe and to build a novel model for accreditation of European Haemophilia Centres. RESULTS: The European guidelines for certification of haemophilia centres have been updated to guidelines for the accreditation and include all the requirements regarding facilities, laboratory and personnel needed for optimal management of novel treatment options, including the introduction of the hub-and-spoke model for delivery of gene therapy. A pilot project for the accreditation of haemophilia centres including on-site audit has been designed. CONCLUSION: Implementation of the novel accreditation protocol of the haemophilia treatment and haemophilia gene therapy centres has been made to further improve the quality of care for patients with haemophilia and other inherited bleeding disorders.

Haemophilia A: health and economic burden of a rare disease in Portugal.

BACKGROUND: Haemophilia A is a hereditary bleeding disorder, which has been considered rare and chronic. The burden of this disease in Portugal remains unknown. The aim of this study was to estimate the annualized cost and health burden of haemophilia A in Portugal. METHODS: Data were extracted from a Portuguese expert panel, from official data and national literature. Annual costs were calculated from the perspective of the society including direct and indirect costs. Unitary costs were extracted from 2017 national official sources and are expressed in euros. Health burden was expressed in disability adjusted life years (DALYs) based on incidence and quality of life questionnaires. Estimates are presented for the overall population and stratified by severity, age group (< 18 years vs. adults) and inhibitor status. RESULTS: The yearly average cost per patient is estimated to range from €39,654/patient without inhibitors and €302,189/patient with inhibitors, representing a 7.6 fold difference. Amongst patients without inhibitors, the annual average cost was €401 in mild, €5327 in moderate and €85,805 in severe disease. Average cost per child and adult is €72,287 and €51,737, respectively. Direct costs represent approximately 95% of all costs, of which almost the totality accounts for clotting factor replacement therapy and bypassing agents. The total annual cost of haemophilia A for the Portuguese society was estimated to be €42,66 million, one third of which was related to the treatment of patients with inhibitors. It is estimated that haemophilia A is responsible for 3878 DALYs in Portugal (497 DALYs in mild, 524 DALYs in moderate, 2031 DALYs in severe patients without inhibitors and 784 DALYs in patients with inhibitors) for the cohort of 2017 (750 patients) or 5.2 DALY/patient during lifetime. CONCLUSIONS: Despite being rare, the economic and health burden of haemophilia A is remarkable. The main cost driver is clotting factor replacement therapy. Moreover, haemophilia A is more costly in children than in adults and rises exponentially with disease severity.

Sociodemographic, Clinical, and Psychosocial Characteristics of People with Hemophilia in Portugal: Findings from the First National Survey.

Hemophilia is a rare genetic bleeding disorder associated with pain, impaired functionality, and decreased quality of life (QoL). Several studies have focused on patient-reported outcomes of people with hemophilia (PWH) worldwide, but no such data are available for Portugal. This survey aimed to describe sociodemographic, clinical, and psychosocial characteristics of PWH of all ages in Portugal. Questionnaires were answered by self-report or by parents of children with hemophilia (proxy version). Variables assessed were sociodemographic and clinical, physical activity patterns, pain, functionality (HAL/PedHAL), QoL (A36 Hemofilia-QoL/CHO-KLAT), anxiety and depression (PROMIS), and illness perceptions (IPQ-R). One-hundred and forty-six PWH answered the survey: 106 adults, 21 children/teenagers between 10 and 17 years, 11 children between 6 and 9 years, and 8 children between 1 and 5 years. Most participants had severe hemophilia (60.3%) and type A was most commonly reported (86.3%). Bleeding episodes, joint deterioration, and pain were very prevalent, with the ankles and knees being the most affected joints, as illustrated by HAL/PedHAL scores. The A36 Hemofilia-QoL assessment showed moderate QoL (96.45; 0-144 scale) and significant anxiety and depression symptoms were found in 36.7 and 27.2% of adults, respectively. CHO-KLAT global score (0-100 scale) was 75.63/76.32 (self-report/proxy). Concerning hemophilia-related illness beliefs, a perception of chronicity and symptoms unpredictability was particularly prominent among adults and children/teenagers. This survey provided a comprehensive characterization of Portuguese PWH, including the first report of psychosocial characteristics. The findings allow for a deeper understanding of life with hemophilia in Portugal and the identification of relevant health care and research needs.

The first Team Haemophilia Education meeting, 2015, Amsterdam, The Netherlands.

Haemophilia remains a complex disorder to diagnose and manage, requiring close cooperation between multidisciplinary healthcare professionals. There are still many unmet challenges in haemophilia care. The first Team Haemophilia Education (THE) meeting, held on 7-8 May 2015 in Amsterdam, The Netherlands, aimed to promote the optimal care of haemophilia patients through education of the multidisciplinary treatment team. This was achieved by reviewing the latest developments in haemophilia management, considering how these can be implemented in the clinic to improve patient care and providing a platform for networking and debate for all haemophilia treatment team members. Haemophilia treatment centres from several countries were asked to complete a premeeting online questionnaire to establish the biggest challenges that they face when managing patients. The concerns expressed were used to develop the agenda, which comprised a combination of formal presentations, case studies and informal workshops covering such topics as pharmacokinetics, laboratory assays and tailoring of treatment to individual patients. This report is a summary of the key developments in haemophilia care presented by various investigators and healthcare professionals at THE meeting 2015.