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Crisis in the Making
Progress in sickle cell disease has been painfully slow. Could race play a role?
Illustration by Andrea Da Loba
Sitting across the room from a young, typically articulate patient who is in agony is a common and difficult moment in our sickle cell disease (SCD) clinic.
While the pain is unbearable for the patients, sitting in that clinic is an uncomfortable experience for providers on many levels. Years ago, before we had a dedicated clinic to provide rapid care, seeing a suffering patient in clinic meant sending the patient to the Emergency Department, knowing they may wait for several hours for a bed before receiving treatment that would relieve their pain—pain that is well-known to be worse than renal colic and labor pains.
Today, with cooperation from our ED colleagues and the availability of the sickle cell infusion clinic, which opened at Johns Hopkins in 2008, we can provide patients with treatment quickly. But the frustration remains. The therapy we currently offer patients who are having a painful crisis, the most common complication of SCD, is the same therapy that we’ve been providing for the last 40 years.
Despite being the first molecular disease described by Linus Pauling in 1949, and despite our having an excellent understanding of the pathophysiology of sickling, we have no available treatments to stop a painful crisis. We simply mask the pain with strong opioids that cause side effects and wait it out along with our patients, who often suffer for days.
There are only two FDA-approved medications for the management of SCD, one approved in 1998, hydroxyurea, and the second approved in 2017, L-glutamine. Both medications have been shown to prevent painful episodes. Hydroxyurea, with which we have years of experience, is a great therapy; it decreases painful episodes by 50 percent and prolongs overall survival. L-glutamine, an amino acid whose mechanism of benefit in SCD is unclear, has been shown to decrease painful episodes by 25 percent when compared to placebo. While stem cell transplant is a potential curative therapy, patients whose insurance is paid through the Centers for Medicare and Medicaid Services can only get this covered if the transplant is done as part of a research protocol.
Recent data show that dramatic gains in survival for children with SCD that started in the 1980s have remained restricted to children. Despite the available therapies, overall mortality rates for adults remain unchanged. And by some reports, overall survival may actually be decreasing.
Why hasn’t there been more progress in the study of treatments for people with SCD? Some propose that race plays a role, as SCD predominantly affects minority populations in the United States, especially those of African descent. In an abstract my colleagues and I published in Blood several years ago, we noted a striking disparity in 2011 research funding for SCD versus cystic fibrosis. Funding per affected individual was 11.4-fold greater for cystic fibrosis than SCD.
The two diseases affect different populations, but with race as one of the main differences, it’s very hard to ignore it as a factor in these numbers. There is no question that more research dollars are necessary to discover and study new therapies for SCD.
In addition, another disparity exists: There are more than 100 comprehensive treatment centers in the cystic fibrosis network for the approximately 35,000 people with the disease in the U.S. There is no network of comprehensive centers for the 100,000 people who are living with SCD. This lack of access to high-quality care for SCD leads to early mortality and needless suffering among patients who live in areas without access to the best technology and knowledgeable providers.
The expectation is that primary care providers know how to treat SCD, but the data show that most are uncomfortable providing even the most routine care. With lack of access to high-quality and knowledgeable providers, it is no wonder that hydroxyurea is underutilized in this patient population.
We anticipate that new therapies, including gene therapy, will be available to people living with SCD in the coming years. These have the potential to dramatically improve quality of life. However, without changes in funding and a systematic change in health care delivery to this underserved population, those therapies may never reach the most vulnerable of patients.