Top 10 hemophilia stories of 2023
Of most interest to readers were new treatments, and pain's impact
Here we’ve compiled a list of the top 10 most-read articles published on our site last year. We hope to continue being a resource for the hemophilia community in 2024.
No. 10 – Gene therapy SPK-8011 shows promise in early clinical trial
Data from an international study showed that treatment with the one-time gene therapy candidate SPK-8011 led to a pronounced reduction in bleeding rates over the long term for most evaluable men with hemophilia A. The promising results of the Phase 1/2 trial (NCT03003533) were seen with up to five years of follow-up.
SPK-8011 is designed to deliver a healthy copy of the gene encoding factor VIII (FVIII) — the clotting protein that’s missing or is faulty in people with hemophilia A — to restore the production of functional FVIII in the body. Of 23 evaluable patients, 21 had a sustained increase in FVIII activity following treatment. No new safety issues were identified in the trial.
No. 9 – Patient in Germany is 1st in Europe to receive commercial Roctavian
Roctavian (valoctocogene roxaparvovec-rvox), a one-time gene therapy for hemophilia A, was conditionally approved in the European Union in 2022 — and in summer 2023, a patient in Germany became the first person in the EU to receive the treatment commercially.
BioMarin Pharmaceutical, the treatment’s developer, stated at the time that dozens of other people in Germany were already undergoing screening to see if they might be eligible for Roctavian. Final negotiations on Roctavian’s price tag were ongoing with officials in that country, and BioMarin also was working with French and Italian officials on agreements on pricing and reimbursement for the therapy.
No. 8 – Companies team up for project to advance new cell therapies
A new collaboration — a partnership aimed at developing new cell therapies for several diseases — was announced in May by pharmaceutical companies AstraZeneca and Sernova.
Targeting diseases that are not yet disclosed, the collaboration aims to explore the use of a delivery system developed by Sernova to administer AstraZeneca’s cell therapies. AstraZeneca was leading preclinical work, with the companies set to decide their next steps based on the results of those experiments.
No. 7 – Severe bleeds seen to occur despite preventive Hemlibra treatment
An analysis of real-world data from more than 300 young people with hemophilia A given preventive treatment with Hemlibra (emicizumab) revealed that nearly 1 in 20 experienced at least one severe muscle bleed while on the therapy.
Most of the severe muscle bleeds were related to trauma or injury and some required hospitalization. These severe bleeds commonly required intensive and prolonged treatment with factor replacement therapies, but none led to Hemlibra discontinuation.
No. 6 – SPK-8011 heading for potentially pivotal Phase 3 testing
Roche, the company developing SPK-8011 for hemophilia A, announced in July its plans to advance the gene therapy candidate into Phase 3 clinical testing. The results of this testing may support applications seeking the treatment’s regulatory approval.
At the same time, the company stated that it was halting the development of another experimental hemophilia A gene therapy called SPK-8016. No specific reason was given for that decision.
No. 5 – Health Canada approves Alhemo for hemophilia B patients with inhibitors
In April, Health Canada approved concizumab, a subcutaneous or under-the-skin injection therapy, as a preventive treatment for people with hemophilia B who are positive for inhibitors — neutralizing antibodies that can lower the efficacy of standard replacement therapies.
This marked the first regulatory approval for concizumab; its developer, Novo Nordisk, is marketing the therapy in Canada under the brand name Alhemo. A few months later, Health Canada also authorized Alhemo to treat hemophilia A patients with inhibitors.
No. 4 – 1st US patient treated commercially with Hemgenix
The first person in the U.S. was commercially treated with Hemgenix (etranacogene dezaparvovec) in summer 2023, following the hemophilia B gene therapy’s approval in late 2022 by the U.S. Food and Drug Administration (FDA).
CSL Behring, the company that sells Hemgenix, said at the time that health insurance providers covering nearly two-thirds of people in the U.S. had created clear policies for if and how they would provide coverage for such treatment. Hemgenix carries a list price of $3.5 million.
No. 3 – Gene therapy Roctavian wins FDA approval for hemophilia A
In June, Roctavian became the first gene therapy approved by the FDA for hemophilia A. In a July written Q&A with Hemophilia News Today, Hank Fuchs, MD, president of worldwide research and development at BioMarin, said the company was gearing up to start treating patients commercially.
Roctavian was commercially launched in the U.S. in August, and in Europe shortly thereafter.
No. 2 – FDA approves long-lasting replacement therapy Altuviiio for hemophilia A
Early in 2023, the FDA approved Altuviiio (efanesoctocog alfa), a long-lasting FVIII replacement therapy, for people with hemophilia A. With that February approval, Altuviiio now can be used both as a preventive and on-demand treatment for managing bleeds.
Its developers later requested FDA permission to update Altuviiio’s label to include full data from a clinical trial testing the therapy in children. That study had not yet been finished at the time of the approval.
No. 1 – Ankle pain can drive poor life quality in hemophilia patients
Ankle problems are associated with substantial quality of life impairments, a study of more than 200 people with hemophilia-related joint damage in the ankles highlighted.
In particular, the data indicated that pain is a major driver of poor life quality among these patients. The researchers said these findings highlight the importance of monitoring people with hemophilia for signs of ankle damage and providing appropriate care where needed.
We wish all of our readers a bright and happy new year.