Tag Archive for: hemophilia

blood cells with sickle cell anemia

Advances in therapy for sickle cell disease and hemophilia

blood cells with sickle cell anemia

Despite having a network of providers and a national database, access to care and treatment burden continue to be issues that affect quality of life in the hemophilia population.

Hemophilia and sickle cell are disorders that are associated with comorbidities and significant treatment burden, discussed Christine Guelcher, PPCNP-BC, lead advanced practice provider for the Center for Cancer and Blood Disorders at Children’s National Hospital, during the virtual 62nd ASH Annual Meeting and Exposition.

During the satellite symposia, Guelcher explained a network of hemophilia treatment centers (HTCs) was developed in the 1970s. The model of multi-disciplinary care in the HTC network has demonstrated improved outcomes. Despite having a network of providers and a national database, access to care and treatment burden continue to be issues that affect quality of life in the hemophilia population.

“While similar programs were developed in sickle cell with similar improvements in care, the funding was not sustained,” Guelcher said. However, efforts are underway to develop multi-disciplinary care and data infrastructure in the sickle cell community.

“The lack of specialized providers, particularly adult hematologists, continues to be an issue for both non-malignant hematologic disorders,” she added.

Advances in care

While hemophilia is rare, it is an expensive disease. Controlling bleeding with medications is expensive and associated with significant treatment burden. Failure to prevent bleeding due to lack of access or adherence can result in debilitating bleeding that impacts on productivity and quality of life. Additionally, clinical trials with gene therapy are ongoing, though questions remain about sustained levels and durability.

“Recent development of drugs that can reduce the frequency of intravenous infusions (extended half-life factor replacement products or subcutaneous novel non-factor prophylaxis) have improved the treatment burden,” Guelcher said. “But access to care continues to be an issue for up to 30% of the patients with bleeding disorders in the U.S.” Sickle cell disease affects mostly Black/African American and Hispanic patients, many of whom already experience health care disparities. While newborn screening, antibiotic prophylaxis and immunizations have decreased life-threatening infections, vaso-occlusive (pain) crisis continues to be a debilitating complication. Furthermore, stroke, pulmonary, cardiac and renal disease are significant comorbidities.

While advances in therapies for sickle cell have provided new treatment options to decrease the frequency of vaso-occlusive crisis, the pathophysiology that results in all of the sequalae is not fully understood. While Bone marrow transplant is potential treatment of the underlying sickle cell disease process, only 20% of patients have a matched sibling donor. Currently, clinical trials are investigating the safety and efficacy of gene therapy. Despite all of these advances, the life expectancy of somebody with sickle cell is 30 years shorter than the general U.S. population.

Access to care

The multi-disciplinary panel presentation at ASH gave participants an opportunity to hear about the challenges facing these patients and families. The overview of new and emerging treatment options gave providers an understanding of treatment options.

“Hopefully, presentations like this will inspire providers to consider a career in non-malignant hematology (particularly adult providers),” Guelcher added.

As one of the nation’s hemophilia and thrombosis treatment centers, Children’s National Hospital provides comprehensive, multi-disciplinary care. Patients can participate in two national registries in order to collect aggregate data that are used to identify trends that impact bleeding disorder patients. Our sickle cell program also offers multi-disciplinary clinics for infants, integrative care for chronic pain and transition, addressing some of the unmet needs that continue to be an issue nationally.

“We also participate in industry sponsored clinical trials to ensure that new therapies, including gene therapy, are safe and effective,” Guelcher explained. “This gives our patients access to state-of-the-art care. Numerous clinical trials to ensure that recently licensed products and gene therapy are safe for use in a pediatric patient with hemophilia and sickle cell are ongoing.”

Suvankar Majumdar

Spotlight on Suvankar Majumdar, M.D.

Suvankar Majumdar

As a provider with international experience, Suvankar Majumdar, M.D., joined Children’s National in August 2017 as chief of Children’s Division of Hematology within the Center for Cancer and Blood Disorders. Dr. Majumdar is excited to be at Children’s National because of the opportunities for growth, cutting-edge research and continuing education that our diverse population of patients can provide clinicians.

Born in Zambia, in southern Africa, and educated in the United Kingdom, Dr. Majumdar moved to Zimbabwe to study medicine, which he considers the turning point of his career. While in medical school, Dr. Majumdar oversaw and managed the treatment of patients with HIV and other chronic illnesses and determined that blood disorders, particularly sickle cell, was where he wanted to place his focus. Since then, he has served as the Director of the Comprehensive Pediatric Sickle Cell Program as well as Director of the Hemophilia Treatment Center at the University of Mississippi and is a recognized leader in hematology and sickle cell disease. It is this expertise, as well as his dedication to research studies, that have already made him an asset to Children’s National.

Within the Division of Hematology, Children’s providers focus on treating patients with blood disorders, bleeding and clotting disorders, red blood cell disorders (such as sickle cell) and more. Since coming to Children’s National, Dr. Majumdar has experienced a tremendous amount of dedication and enthusiasm from his colleagues. “I’m excited to build on what our faculty has accomplished so far. We’re already well poised to become a national leader in hematology,” he says. “I have no doubt that we will continue to accomplish our goals through collaboration and working toward a common life-saving cause.”

One of his immediate goals for the division is to focus on bringing improved patient care and accessibility in the surrounding Washington area. Additionally, Dr. Majumdar is currently conducting two research studies for sickle cell disease. As one of his studies enters the second phase, he’s focused on seeing the impact of an intravenous citrulline, a nitric oxide booster, on patients with sickle cell disease. Another study has begun to determine if specific genetic mutations that cause prolonged QT, or irregular heartbeats in patients, cause mortality, as sickle cell patients are predisposed to cardiac episodes.

It is Dr. Majumdar’s hope that the hematology team at Children’s National will also continue training the next generation of providers to advance research, education and clinical aspects of the field. To those looking to join the specialty, Dr. Majumdar suggests keeping an open mind when it comes to collaborating with colleagues. “My dad always said to my siblings and I that ‘to break one stick is easy, but to break three sticks is harder’ and really impressed upon us that we’re stronger together,” he says. “By working together, we’re more likely to produce the results that we’re looking for.”

Being located in the nation’s capital, providers at Children’s National are accustomed to seeing a diverse array of patients. For Dr. Majumdar, this presents a unique opportunity. “Meeting and interacting with different patients and families was really appealing when I decided to come to Children’s National. The variety of cases we see in the Division of Hematology can definitely present new challenges, but it’s also more rewarding,” he says.

Working with the pediatric population is also a passion of his. “Children are resilient and tend to bounce back quickly,” Dr. Majumdar says. “As a parent, I try to empathize with treatment concerns and always treat every child as if they were my own. I’m always going to make sure it’s the best level of care possible.”