The Rare Disease Report Podcast Recap: Sickle Cell Disease

Last month, HCPLive® and Rare Disease Report® launched the Rare Disease Report podcast, a new series aimed at providing a multimedia platform for experts and advocates of rare disorders.

The first episode explored the clinical and social challenges related to sickle cell disease.

Kim Smith-Whitley, MD, Executive Vice President-Elect of Global Blood Therapeutics, spoke on the disease’s clinical history, the reality of working with such patients, as well as its current therapeutic and research status.

Below are key quotes from the episode. Listen to the full podcast above.

Tell us about yourself and how you ended in this clinical domain.

“I thought I was going to grow up to be a vet, and that transformed in my college years as I began to have more experiences taking care of patients in different settings. […] Fortunately, I became very interested in pediatrics early on, and then, subsequently, interested in caring for those living with sickle cell disease.”

“My desire as I started in my true professional career as an attending at CHOP [Children’s Hospital of Philadelphia] was to bring many of the benefits and access to care protocols to sickle cell that I was seeing other patients benefit from.”

Can you describe the challenges faced by patients with sickle cell disease?

“The first US patient described with sickle cell disease was in 1910. It really wasn’t until the 1990s when we had a disease-modifying agent for sickle cell disease. And, then again, not until 2017 where we had our next FDA-approved drug. And then Oxbryta in November of 2019.

So, I just put therapies in the context of sickle cell disease so you can understand also what few therapies we have to address these challenges.”

Would you comment on these issues of healthcare disparities within communities affected by sickle cell disease?

“I think the most striking disparities for me is the lack of robust therapeutics that we can use to make individuals better once they have problems, [and] the lack of robust therapeutics that we have in order to prevent problems in high-risk individuals. And then the reality of early mortality is another complication with sickle cell.”

“Sickle cell primary affects communities of color. So, there is a stigma associated with sickle cell in that context as well as the context of needing to go to hospitals for pain management and being classified as drug-seeking.”

What does that initial conversation following diagnosis look like for these families?

“When I have a conversation with parents who bring their child to me because their little one has been suspected of having sickle cell, […] this is my opportunity to advocate for having a really robust sickle cell team. It’s not just me—it’s my social workers, my nurses, it’s my community health workers who are the true heroes of sickle cell care.”

“We want those families to hear those positive messages about what could be if we keep their child in good care. […] So, the first thing I want to do is instill hope. The other thing is that we really need to educate that individual as to what sickle cell means for that child and that family.”

What is the current state of research, and where do we still need to go with it?

“One of the wonderful things about joining Global Blood Therapeutics is we have 2 agents—a new generation of an inhibitor of sickle hemoglobin polymerization coming down the pike as well as a new type of drug, an anti-P-selectin that is similar to crizanlizumab, that can be used to lower the incidence of pain episodes in individuals with sickle cell.”

“The thing I’m excited about is I really believe if we can make a healthier red cell, then some of those other targets downstream will not need to be addressed.”

What advice would you give to healthcare providers treating these kinds of patients?

“It is very important for people to realize that there is more to individuals with sickle cell disease that cause problems other than pain. Every organ is involved in complications both short-term and long-term in individuals with sickle cell disease."

“Having access to sickle cell expertise and to sickle cell therapeutics is really what I’m hoping individuals in our community—both individuals living with sickle cell disease as well as healthcare providers—are hearing.”