Dawn Rotellini, chief operating officer of the National Hemophilia Foundation, discusses the impact recent advances in technology and changes in policy focusing on rare diseases have impacted the disease state of hemophilia.
By definition, patients with a rare disease are always part of a small group and, because of this, they can often feel overlooked in the landscape of medicine and healthcare.
Thanks to the ushering in recent advances and pushes for treatments in recent decades, many of these patient populations have experienced relief but still face an uphill battle.
Patients with hemophilia and their care providers are a prime example. Decades ago, the outlook was bleak and the treatments that were available were often inaccessible and, sometimes, dangerous—many living with severe hemophilia also deal with AIDS as a result of blood transfusions that had not been properly screened for HIV.
Now, patients can rest easy knowing the Centers for Disease Control have measures in place to ensure safe transfusions but access to care is still a challenge. For Dawn Rotellini, chief operating officer of the National Hemophilia Foundation, advances and pitfalls in the treatment of hemophilia is something that impacts her life in a professional and also a personal way.
As the daughter of a man with hemophilia and the mother of another, Rotellini has had a first-hand look at the disease in a way most others could not even imagine. With issues like access to care and ensuring that care is adequate still present, the work of groups advocating for rare disease patients are of the utmost importance.
Between sessions at the 2019 National Organization for Rare Diseases (NORD) and Orphan Products Breakthrough Summit, MD Magazine® sat down with Rotellini to get her take on how the disease state of hemophilia has changed as a result of changes in recent years.
MD Mag: How has the disease state of hemophilia changed in recent years?
Rotellini: Wow. So, we have had huge innovation over the past, actually, several years from plasma-derived products to recombinant products that are created in a lab. From standard half-life, which is how long the medicine stays in your body before it cycles out is what we call half-life, and from a short half-life to, now, an extended half-life product.
In the last few years, tremendous innovation in non-factor therapy products. So, factor is the name of our medicine what it really is it replaces a missing protein and so it's factor 8, factor 9, that's what you're missing and so that's why we call our medicine factor.
Today, with innovative ways of bridging the clotting cascade gap—meaning basically when you get an injury that your body triggers the right mechanism to form a clot there are instead of just replacing that protein—there are innovative therapies that are looking at different ways and are already on the market and in such a short period of time. Now, even discussing gene therapy in the pipeline. We know 1 gene therapy they're going to be submitting to the FDA this year, at the end of this year. So, it's been crazy with the innovation and the change in this space in a really relatively short period of time.