Achieving the unimaginable: Health equity in haemophilia

Abstract

Haemophilia. 2020;26:17-24.wileyonlinelibrary.com/journal/hae | 17 | INTRODUC TI ONCurrent prophylaxis protocols for haemophilia A are designed conservatively, with a minimal goal of achieving factor VIII (FVIII) trough levels of ≥1%. This threshold was originally selected based on generally favourable outcomes from early cryoprecipitate studies that targeted trough FVIII levels of 1%-3%, supportive evidence that moderate haemophilia was associated with fewer bleeds and better preserved joint function than severe haemophilia, and limitations in plasma resources at the time. 1-3 However, persons with haemophilia (PwH) who are maintained at 1% FVIII continue to experience spontaneous bleeding and remain at higher risk for injury with daily activities. 4 Furthermore, current prophylaxis regimens do not prevent haemophilic arthropathy over a PwH's lifetime. 5 With the growing availability of current therapies, the validity of the 1% threshold has come under scrutiny, accompanied by the proposal to target higher thresholds ≥15%. 6 Recent success in clinical development of haemophilia therapies opens an era of new possibilities and holds great promise for people Abstract Historically, treatment based on the availability of clotting factor replacement has resulted in an arcane guideline for the correction of factor deficiencies in people with haemophilia (PwH). While all other disease entities seek to restore function to a normal level, PwH are restricted to factor nadirs still equivalent to mild or moderate disease, resulting in continued risk of bleeding. A new treatment paradigm is needed based on the defined needs of PwH. A treatment model was developed by a panel of haemophilia providers, patient advocates and health economists to establish specific treatment milestones and targeted outcomes. The panel defined a series of treatment milestones to characterize the activity and outcomes linked to level of factor deficiency correction. All agreed that the ultimate goal should be 'functional cure' and 'health equity'. Seven levels to achieving a functional cure were identified, (a) Sustain life; (b) Minimal joint impairment; (c) Freedom from any spontaneous bleeds;(d) Attainment of 'normal' mobility; (e) Able to sustain minor trauma without additional intervention; (f) Ability to sustain major surgery or trauma; and (g) Normal haemostasis. A parallel set of patient-reported outcomes to achieve health equity was identified. These guidelines are now comparable with other disorders where the goal is to replace missing proteins to attain normal activity levels. As we are no longer limited by plasma supply due to the manufacture of recombinant factors, mimetics, and the early success of gene therapy, health equity is now achievable. K E Y W O R D Shaemophilia, outcomes, prophylaxis, replacement factor How to cite this article: Skinner MW, Nugent D, Wilton P, et al.Achieving the unimaginable: Health equity in haemophilia.

Mortality in congenital hemophilia A – a systematic literature review

“…49 It is predicted that bleeding-related mortality will decrease over time, particularly in the low-and middle-income countries, as prophylaxis is more broadly implemented and overall care improves. 60 Cancer and cardiovascular disease are increasingly prevalent causes of death in PwH because improved treatment and prophylaxis options lead to impressive leaps in life expectancy and an expanding population of elderly PwH. The studies reviewed here suggest that malignancy rates in PwH are, with the exception of HCC and other virus-related malignancies, 23,33,61 similar to or lower than in the general population.…”

Guest Editor: G. Castaman GENE THERAPY FOR HEMOPHILIA: FACTS AND QUANDARIES IN THE 21ST CENTURY

“…Making hemophilia gene therapy accessible and affordable for all will require advocacy and innovative solutions from the entire community. As the field moves forward and the above questions are answered, gene therapy could undoubtedly be a welcomed therapeutic revolution and provide health equity in hemophilia as proposed by Skinner et al 137 …”

The World Federation of Hemophilia Annual Global Survey 1999‐2018

“…Although Treatment for All and help achieve healthcare equity for people with bleeding disorders across the world. 16,35…”