Therapeutic and technological advancements in haemophilia care: Quantum leaps forward

Abstract

Introduction Recent technological innovations in haemophilia have advanced at an astounding pace, including gene therapy programmes and bioengineered molecules for prophylaxis, products that reduce treatment burden through half‐life extension, unique mechanisms of action, and subcutaneous administration. Additional technological advancements have emerged that are anticipated to further transform haemophilia care. Aim Review new and emerging haemophilia therapies, including replacement and bypassing products, digital applications, utilisation of big data, and personalised medicine. Methods Data were obtained from peer‐reviewed presentations/publications, and ongoing studies in haemophilia, ultrasonography, and artificial intelligence (AI). Results Available treatments include new recombinant factors VIII (FVIII) and IX (FIX), extended half‐life FVIII/IX products, a new FVIIa product for inhibitor patients, and a FVIIIa‐mimetic. Several novel therapeutics are in clinical trials, including FVIIIa mimetics and inhibitors of naturally‐occurring anticoagulants. Ongoing gene therapy trials suggest that a single vector infusion using an optimised construct can produce factor activity that reduces bleeding to near zero for years. Today, persons with haemophilia (PwH) approach a lifespan comparable to that of the general population, presenting treatment challenges for age‐related co‐morbidities. Technological innovations have broadened beyond therapeutics to include large database analyses utilising remote data collection with handheld devices, and to tailor AI applications. Current development efforts include patient‐performed ultrasonography, algorithms for scan interpretation, and point‐of‐care haemostatic testing devices. Conclusions We have entered a golden age for haemophilia treatment and care with wide‐ranging advancements targeting improved quality of life (QoL). Future‐focused efforts by clinical and patient communities may provide equitable access and care for people impacted by haemophilia worldwide.

The Vascular Endothelium and Coagulation: Homeostasis, Disease, and Treatment, with a Focus on the Von Willebrand Factor and Factors VIII and V

“…First-line treatment for FVIII deficiency consists in factor replacement therapy using plasma-derived or recombinant concentrates [ 297 , 298 , 299 , 300 ]. This treatment prevents bleeding episodes as well as the joint deterioration resulting from accumulation of blood in the synovial space, which may cause irreversible cartilage damage.…”

“…A series of new pharmacological products have been developed within the framework of the so-called hemostatic rebalancing therapies, aimed at restoring the blood’s homeostasis mainly by inhibiting some of the natural anticoagulant pathways, such as TFPI, antithrombin III (AT-III), and APC ( Figure 7 ). These agents, nowadays in more or less advanced clinical trial phases, many of them in phases 2/3, are variously based on monoclonal antibodies, iRNAs, or protease inhibitors [ 298 ]. They are considered adjuvant to replacement therapies in the event of a functional deficiency of a coagulation factor, mainly FVIII or FIX.…”

The Magic of Proteases: From a Procoagulant and Anticoagulant Factor V to an Equitable Treatment of Its Inherited Deficiency

“…The goal is to develop new pharmacological products aimed at restoring blood homeostasis by inhibiting some of the natural anticoagulant pathways, such as TFPI, AT-III, and APC. These agents will take the form of monoclonal antibodies, iRNAs, or protease inhibitors [ 58 ].…”

How can artificial intelligence help rehabilitation programs for people with hemophilia in the coming decades?

“…However, before implementing AI in rehabilitation, ethical issues (e.g., security and privacy) must be addressed. 3 Additionally, it is crucial to consider that digital skills and access to the internet or smartphones can be the main barriers to implementing AI solutions in rehabilitation. The ChatGPT is only one example of how AI applications are arriving in our society.…”

“…1 AI applications can also potentially provide solutions to current social and educational gaps in underdeveloped and developing countries. 3 Rehabilitation is crucial to prevent musculoskeletal deterioration, improve functionality and the quality of life for people with hemophilia (PWH). AI applications may improve rehabilitation in remote areas where medical care is scarce.…”