Sarah Gubara (Host): This is Transformational Pediatrics with Children's Mercy Kansas City. I'm Dr. Sarah Gubara. And today, we are discussing cell and gene therapies. And I invite you to listen in as we discuss with Dr. Shabnam Arsiwala, Director of the Sickle Cell Disease Program at Children's Mercy Kansas City. Hello, Dr. Arsiwala. How are you?

Shabnam Arsiwala, MD: Hello, Dr. Gubara. I'm well. How are you?

Host: I'm doing well. Thank you so much for educating us on this. So to start us off, how are cell and gene therapies changing what's possible in pediatric medicine?

Shabnam Arsiwala, MD: Cell and gene therapies are changing pediatric medicine by allowing us to target the root cause of the disease rather than simply managing symptoms. For many genetic disorders, including sickle cell disease, we are moving from lifelong supportive care to the possibility of durable disease correction or even functional cure.

For children, that means the potential for healthier adulthood, fewer complications, and a dramatically different life trajectory than previous generations experienced. For the first time, we are not just asking, "How do we help children live with these diseases?" We are increasingly able to ask, "How do we help children live beyond them?"

Host: That's incredible. That is such a change. What do you think makes sickle cell disease one of the most promising areas for gene therapy today?

Shabnam Arsiwala, MD: Sickle cell disease is now one of the most promising area for gene therapy today, because it's caused by a single well-understood genetic mutation. That gives scientists a very clear target. Unlike many complex diseases that involves multiple genes and environmental factors, we know exactly what's driving the condition.

What's also exciting is that the disease originates in the blood-forming stem cells in the bone marrow. Those cells can be collected from the patient, genetically modified, and then returned to produce healthier red blood cells. For decades, our treatments focused on managing complications such as pain crises, acute chest syndrome, stroke, and organ damage. Gene therapy creates the possibility of changing the biology of the disease itself rather than simply treating its consequences.

As a pediatric hematologist, what makes this especially meaningful is the potential to intervene early in life. If we can prevent years of cumulative organ damage and recurrent hospitalizations, we are not just improving symptoms, we are potentially changing a child's entire future health trajectory. That's why sickle cell disease has become one of the leading examples of transformative potential of gene therapy.

Host: That's amazing. What do you think the biggest challenge to expanding access to these therapies is?

Shabnam Arsiwala, MD: These therapies require specialized centers, complex manufacturing, and significant resources, which can make it very difficult for patients to receive treatment. We also need to ensure equitable access, especially for diseases like sickle cell disease that disproportionately affects underserved populations. As exciting as our science is, our next biggest challenge is making sure every eligible patient can benefit from it

Host: Thank you for telling us about how to expand access. What does it take for a healthcare system to successfully deliver cell and gene therapies?

Shabnam Arsiwala, MD: Yes, Dr. Gubara. Successfully delivering cell and gene therapies takes a strong network of partners. It requires coordination among clinicians, laboratory teams, care coordinators, payers, and organizations that help navigate this complex treatment journey. That's where collaboration becomes so important.

Partnerships with organizations like Basepath Health can help connect patients and providers, streamline access to specialized services, and support families as they navigate what can be a very complicated process. The therapy itself is groundbreaking, but successful delivery depends on having the right system and partnerships like we have with Basepath Health in place to ensure patients and families receive timely, coordinated, and comprehensive care

Host: So to make sure that patients can get that timely coordinated care, what recommendations or how can pediatric providers identify the patients who may benefit from these treatments?

Shabnam Arsiwala, MD: Certainly, pediatric providers play a critical role because they often are the first ones to recognize when a patient might be a candidate for advanced therapies. That starts with staying informed about rapidly evolving treatment options and referring patients early to specialty centers when appropriate.

For conditions like sickle cell disease, it is important to identify patients experiencing significant disease burden or those at risk of long-term complications before irreversible damage occurs. Early conversations give families time to understand their options and make informed decisions.

Partnerships are also very critical. Collaborating with specialty programs and organizations like how Children's Mercy does with Basepath Health can help providers navigate referrals, streamline evaluations, and access pathway more efficiently. Ultimately, the key is awareness. The earlier we identify potential candidates, the more opportunities we have to change the trajectory of the disease

Host: Amazing. Looking ahead, Dr. Arsiwala, which cell or gene therapy advances are you most excited about?

Shabnam Arsiwala, MD: Yes, certainly. It is a very exciting time. And what excites me most is that we are just beginning to see what's possible. Today, many cell and gene therapies are focused on single gene disorder like sickle cell disease. But the field is rapidly evolving and expanding. I'm particularly excited about the therapies that can be delivered earlier in life before complications can occur, as well as advances that makes these treatments safer, more efficient, and more accessible to patients.

We are also seeing growing potentials in areas such as inherited immune disorders and metabolic diseases. Ultimately, the goal is not only to treat the disease, but to prevent years of complications and give children the opportunity for healthier futures. That makes this such an exciting time in pediatric medicine.

Host: That is an exciting time. Thank you so much, Dr. Arsiwala, for teaching us about comprehensive care and access to curative therapies. It has been wonderful to have you.

Shabnam Arsiwala, MD: Thank you, Dr. Gubara, for inviting me over.

Host: Of course. To refer your patient or for more information, please visit childrensmercy.org to get connected with one of our providers. This has been Transformational Pediatrics with Children's Mercy Kansas City. Please remember to subscribe, rate, and review this podcast and all other Children's Mercy podcasts.