For boys and men with moderate to severe hemophilia, switching to extended half-life (EHL) products is linked to a reduced number of infusions and a sustained low rate of bleeds, according to a  real-life, multi-center study in Canada. Notably, a significant drop in the annualized bleeding rate (ABR)…

At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…

BioMarin Pharmaceutical has resubmitted a regulatory application seeking approval in Europe for its experimental gene therapy Roctavian (valoctocogene roxaparvovec) for severe hemophilia A. That resubmission, to the European Medicines Agency (EMA), included one-year follow-up data from BioMarin on the therapy’s safety and effectiveness in treating the rare genetic…

A few years ago, I took one notebook from my stationery collection and wrote on its first page: “My Official Book of Mistakes.” In this notebook, I was supposed to write the mistakes I made in business so that I would work hard on not repeating them while moving forward.

Less-frequent and easier administration of factor VIII (FVIII) — the clotting protein that is missing or defective in people with hemophilia A — is likely to boost treatment adherence among patients with severe disease, a South Korean study has found. The study, “Patients’ and parents’…

I received an email from an old friend. She remembers when my youngest son, Caeleb, was in and out of the hospital. We both have experience raising a son with hemophilia and an inhibitor. Our paths are terribly similar, and seeing her name pop up in my email was…

My dear husband, I won’t do everything for you. I may take on some of your physical responsibilities when your body says “no for now,” but I’ll leave you to do all the thinking and strategizing you can do for our family. You may have hemophilia and a seizure disorder,…

Joint pain significantly rose and overall joint health — particularly range of motion — diminished with limitations on physical activities during the COVID-19 lockdown for people with hemophilia and joint disease, a small study from Spain reported. The study “Musculoskeletal Changes in Hemophilia Patients Subsequent to COVID−19…

In past columns, I wrote about the benefits of creating a medical road map to keep everyone involved in my son’s hemophilia care on the same page. This collegial approach included data from medical, educational, and personal perspectives, allowing us to form a rich assessment of my stinky boy’s…

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…