Kim Smith-Whitley, MD, chief medical officer for Real-World Evidence, Patient Advocacy, and External Collaborations at Pfizer and pediatric hematologist at the Children’s Hospital of Philadelphia, discusses recent advances in sickle cell disease treatment.
Sickle cell disease is a group of inherited red blood cell disorders that affect hemoglobin. Due to a genetic mutation, red blood cells become “sickle”-shaped and can not move easily. As a result, blood flow throughout the body can be blocked. This can cause serious problems such as stroke, eye problems, infections, and pain crises.
Currently, the only cure for sickle cell disease is a bone marrow transplant. Treatment plans focus on disease management and reducing symptoms. However, recent advancements in the gene therapy space are creating hope for sickle cell patients.
Casgevy and Lyfgenia
In December 2023, the US Food and Drug Administration (FDA) approved gene therapies Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for the treatment of sickle cell disease in patients aged 12 and older. Notably, exagamglogene is the first FDA approved treatment utilizing CRISPR technology.
As Dr. Smith-Whitley explains, these approvals are an important step for sickle cell patients, a population that has been marginalized for a long time. Having more treatment options allows for shared decision-making between patient and doctor, helping to individualize treatment plans.
GBT601
Pfizer has also been in the process of developing and testing GBT601. Building off of sickle hemoglobin polymerization inhibitor voxelotor, GBT601 is the next step in such treatment. So far, research on this treatment has shown a higher efficacy at lower doses and reduction in sickling of blood cells.
The Phase II study involved individuals receiving 100 milligrams or 150 milligrams of GBT601 daily and showed a 2.7 and 3.2 increase in steady-state hemoglobin, respectively. The trial also showcased improved tolerability and a less severe side effect profile.
Dr. Smith-Whitley goes on to explain plans for GBT601’s Phase III trial and Inclacumab, a P-selectin inhibitor, currently in Phase III trials for reducing acute pain episodes.
For more information on sickle cell disease and other rare hematologic disorders, visit https://checkrare.com/diseases/hematologic-disorders/
