Women with genetic blood disorders, including those who are carriers of hemophilia A and B, face multiple uncertainties surrounding their diagnosis, according to a recent interview-based study. Many women claimed to have been misdiagnosed initially and did not receive a correct diagnosis until after the disease had…
The National Institutes of Health (NIH) awarded the DNA Medicine Institute (DMI) a $1.5 million grant to advance a quick and easy way of monitoring factor VIII (FVIII) and Hemlibra (emicizumab) blood levels in people with hemophilia A, especially those in developing countries. DMI,…
The first participant was dosed with the investigational gene therapy treatment SB-525 (giroctocogene fitelparvovec) in a Phase 3 clinical trial in men with hemophilia A, according to developers Pfizer and Sangamo Therapeutics. AFFINE (NCT04370054) is a pivotal trial, which means it is intended to…
The National Hemophilia Foundation (NHF) is inviting the country’s bleeding disorder community and others to participate in a first virtual Unite for Bleeding Disorders Walk on Oct. 10. The walk provides a means to raise funds for and awareness of disorders such as hemophilia. Due to the…
Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions to…
A recall on Ferring Pharmaceuticals‘ intranasal desmopressin compounds — used to treat mild to moderate hemophilia A and von Willebrand disease type 1 — is expected to affect the availability of these products until at least mid- to late-2021, according to an advisory from the…
Using prednisone in combination therapies increases an infection risk but also better raises the likelihood of patients with acquired hemophilia A (AHA) achieving complete remission than does prednisone given alone, a Dutch study found. The retrospective study, which evaluated patients diagnosed over a 27-year period, also found that…
Note: This story was updated Nov. 6, 2020, to clarify key scientific concepts. The gene-editing tool CRISPR/Cas9 enables a targeted gene insertion approach that may be superior to conventional gene therapy at restoring the activity of factor IX (FIX), the blood-clotting protein missing in people with…
It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.  “The hardest thing…
Long-term treatment with Esperoct (turoctocog alfa pegol) prevented bleeding in one-fifth of children with severe hemophilia A over the course of a Phase 3 clinical trial, according to final results from the study. Treatment was effective in both spontaneous and traumatic bleeds, and appeared to be…
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