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Haemophilia, state of the art and new therapeutic opportunities.
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  • Francesca Tomeo,
  • Segundo Mariz,
  • Angelo Loris Brunetta,
  • Violeta Stoyanova-Beninska ,
  • Armando Magrelli
Francesca Tomeo
University of Rome Tor Vergata
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Segundo Mariz
European Medicines Agency
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Angelo Loris Brunetta
Italian Foundation ‘L.Giambrone’ for the cure of Thalassemia
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Violeta Stoyanova-Beninska
Medicines Evaluation Board
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Armando Magrelli
Istituto Superiore di Sanita
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Abstract

Haemophilia A and B are rare bleeding disorders. Over the past decades, they have been transformed from debilitating diseases to manageable conditions. However, several challenges and unmet needs remain in the treatment of the haemophilia limiting the QoL of the patients. These challenges are now being addressed by EHL recombinant factors, rebalancing and substitution therapies. Gene therapy and genome editing show promise for a definite clinical cure. Herein, we provide an overview of new therapeutic opportunities for haemophilia and their advances and limitations. The database on human medicines from EMA was used and data from rare disease (orphan) designations and EPARs were retrieved for the analysis. Clinical Trial databases were used to query all active studies on haemophilia. Gene therapy medicinal products based on AAV and lentiviral vectors are in development and clinical trials have reported substantial success in ameliorating bleeding tendency in haemophilia patients. The prospect of gene editing for correction of the underlying mutation is on the horizon with considerable potential. We are entering an era of innovation and abundance in treatment options for those affected by bleeding disorders but issues still remain about the affordability and accessibility to patients, the long-term durability, safety and efficacy.

Peer review status:IN REVISION

24 Jul 2020Submitted to British Journal of Clinical Pharmacology
25 Jul 2020Assigned to Editor
25 Jul 2020Submission Checks Completed
31 Jul 2020Reviewer(s) Assigned
19 Sep 2020Review(s) Completed, Editorial Evaluation Pending
22 Sep 2020Editorial Decision: Revise Major