News

In Austria, most patients with hemophilia have been vaccinated against COVID-19 — but some expressed concerns over the vaccine’s potential side effects — a small study found. Data showed that 75.0% of the patients in the study were fully vaccinated and that 87.5% had received at least one dose…

It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.

Well over 70% of children with severe hemophilia born in a region of Italy in the last 20 years were to women without a family history of the disease, data from a registry analysis show. “Our data highlight the importance of genetic counselling, especially in families with apparently sporadic haemophilia cases,…

An ultrasound-mediated, non-viral gene therapy safely and effectively increased the levels of factor VIII (FVIII) — the missing clotting factor in hemophilia A — and lessened bleeding in a mouse model of the disease, a study shows. The delivery of a modified, improved version of the disease-associated F8 gene…

People with hemophilia may be less likely to develop cardiovascular disease (CVD) — disorders of the heart and blood vessels — according to a study from the U.K. and the Netherlands. “A lower-than-predicted [cardiovascular disease] incidence was found, supporting the theory that hemophilia protects against CVD,” the researchers wrote.

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…

Nearly all men with moderate-to-severe hemophilia B given the experimental gene therapy EtranaDez (etranacogene dezaparvovec) in the HOPE-B trial have stopped using prophylactic therapies, full study results show. Trial data also indicated that EtranaDez, formerly known as AMT-061, is effective in people with antibodies against the viral vector…

More than 80% of the men with severe hemophilia A treated with the investigational gene therapy Roctavian (valoctocogene roxaparvovec) in the Phase 3 GENEr8-1 trial remained bleed-free two years later, and nearly all were off standard preventive therapies. These findings were among new data presented at the recent 15th Annual…

Dexamethasone, a steroid with immunosuppressive and anti-inflammatory properties, may temporarily increase the efficacy of one-time gene therapy when given at later time points, a study in mice suggests. Lab results showed that dexamethasone increased the levels of factor IX (FIX) — the missing clotting protein in hemophilia B —…

Spontaneous and joint bleeds, and limits on physical activity are evident in people with severe hemophilia A even when they adhere to and remain on preventive treatment, an analysis of global, real-world data showed. These findings highlight the need for additional alternative therapies for patients with severe disease. The study,…