The European Medicines Agency (EMA) has agreed to review a request by CSL Behring to approve the potential gene therapy EtranaDez (etranacogene dezaparvovec) for people with hemophilia B. The request, in the form of a marketing authorization application or MAA, will be reviewed under the EMA’s accelerated assessment, meaning…

Elevated levels of the immune signaling protein BAFF were found in the bloodstream of boys who developed neutralizing antibodies against FVIII replacement therapy, a standard treatment in hemophilia A, a study reported for the first time. Changes in the gene that encodes the BAFF protein, involved in the growth…

I recently participated in a webinar called “Mild Matters,” organized by the Hemophilia Federation of America. The purpose was to discuss challenges faced by people with mild bleeding disorders. When the discussion turned to self-advocacy, I began to think about my own history of dealing with von Willebrand disease…

My sons reacted to hemophilia treatment in entirely different ways. My oldest son, Julian, had one port-a-cath, while my youngest son, Caeleb, had eight. Julian had two surgeries, one to place the port and the other to remove it, while Caeleb required 16 surgeries for port placements and removals.

Hemophilia patients with a low number of red blood cells and reduced coagulation factor levels — the activity level of proteins essential for blood clotting — are at a higher risk of increased blood loss during a knee replacement surgery, a study reported. The study, “Risk…

Meaningful connections with other people are of incredible value to people with chronic illnesses. My husband, Jared, and I can both attest to this, as he lives with severe hemophilia B and a seizure disorder, while I am newly diagnosed with both bipolar II disorder and the inattentive…

Treatment with the experimental gene therapy Roctavian (valoctocogene roxaparvovec) significantly increased factor VIII levels in men with severe hemophilia A treated in the Phase 3 GENEr8-1 trial and with reasonable safety, findings at one and two years post-treatment show. While declines in these levels were evident over time,…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

A foam roller to release tension in the fascia — a casing of fibrous tissue that surrounds and holds other tissues in place — is safe to be used by patients with knee joint disease caused by hemophilia, a Spanish has study found. When the fascia tightens around muscles,…

Next month, April 21–23, the MacDonald family heads to San Antonio to attend the Hemophilia Federation of America’s 2022 Symposium. I cannot wait to see old friends and participate in educational sessions regarding upcoming treatments and services to the bleeding disorders community. My wife, Cazandra, and I haven’t…