A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
The vast majority of women who have a bleeding disorder or are hemophilia carriers experience noticeable symptoms, such as bruising or heavy periods, a study based on survey results reported. These women also often mentioned encountering healthcare professionals who were dismissive or lacking in empathy. “Many of the experiences…
People nationwide are marking Bleeding Disorders Awareness Month, set aside each March, to call attention to disorders such as hemophilia and von Willebrand disease, and the more than 3 million U.S. residents thought to be living with them. Across the U.S., patients, caregivers, and activists are running and walking…
CSL Plasma is donating $125,000Â to the American Red Cross in an effort to help lessen the burden of natural disasters to local communities in the U.S., including areas that affect plasma donors and employees involved in the manufacturing of plasma-derived therapies. Plasma protein therapies are one of the…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
BioMarin Pharmaceutical has completed enrollment in GENEr8-3, a Phase 3b study evaluating its investigational gene therapy Roctavian (valoctocogene roxaparvovec) in combination with corticosteroids in men with severe hemophilia A. Top-line data from the 52-week (one year) study are expected to be released in early 2023, according to a…
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…
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