Haemophilia, state of the art and new therapeutic opportunities
Francesca Tomeo 1, Segundo Mariz 2,
Angelo Loris Brunetta 3, Violeta Stoyanova-Beninska4 and Armando Magrelli 5*
1 University of Rome Tor Vergata, Italy;francesca.tomeo@gmail.com
2 Orphan Office, European Medicines Agency,Segundo.mariz@ema.europa.eu
3 Italian Foundation ‘L.Giambrone’ for the cure of
Thalassemia;lorisbrunetta@gmail.com
4 Medicines Evaluation Board, The Netherlands;v.stoyanova@cbg-meb.nl
5 National Center for Drug Research and Evaluation,
Istituto Superiore di Sanità, Italy ;armando.magrelli@iss.it
* Correspondence: armando.magrelli@iss.it; Tel.: +390649904148
Keywords: Haemophilia; replacement therapy; rebalancing
therapy; gene therapy; orphan drugs; orphan designation; marketing
authorization; EMA; advanced therapies.
Word count, table count, figure count – 4792 words, 5 tables, 3
figures.
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.