Inside Pediatrics Fall/Winter 2023-2024

“You need many, many sites that access a lot of different patients and provide care for a lot of different patients to be able to enroll on a systematic single research protocol and gather information from across the country or even across the world,” Kimberlin explained. “You have to be able to learn enough about the disease, its diagnostics and its treatment to really advance the field and reach the ultimate goal of impacting patients’ lives.” This approach of a formalized collaboration to address rare diseases in children had its start with the Collaborative Antiviral Study Group (CASG) created at UAB in the 1970s by Kimberlin’s longtime colleague Richard Whitley, M.D., who currently serves as co-director of the Division of Pediatric Infectious Diseases and vice chair for basic research at UAB.

CPIC is 1 of 20 different consortia that comprise the RDCRN

Rare diseases affect 1 in 10 Americans

One example of the value of such collaboration is a 1980s CASG study on intravenous administration of acyclovir to treat neonatal herpes, which affects about 2,000 babies born every year in the United States. The study showed that IV acyclovir increased survival rates and improved developmental outcomes. In the 2000s, the CASG conducted a subsequent study that showed the substantial impact on developmental outcomes for babies who received oral acyclovir for six months following IV acyclovir treatment. That collaboration, as well as numerous others, changed the standard of care. “When you look at 3.6 million births a year, it can seem like a small number, but a few thousand babies impacted by these really quite devastating infections is a real impact,” Kimberlin said. “To have the opportunity to make their lives better has been very rewarding for all of us.” Modeling CPIC on the CASG offers a proven framework for expanding research and improving treatment for rare diseases by bringing together the knowledge and expertise of each participating member and allowing them to ask new questions about existing diagnostics and treatment. Basing CPIC at UAB and Children’s provides the benefits of a well-established program and its assembled experts. “It’s just an absolutely phenomenally talented group of colleagues that I have the privilege of working with,” Kimberlin said. “They know all about regulatory oversight of studies, how to manage sites that are enrolling on studies, and how to

handle the sub-awards and sub-contracts that are necessary to provide the funding for those studies so that the NIH dollars that come to UAB can then be passed along to the sites that are doing the work.” Kimberlin is quick to note the crucial contributions of the children and families who face the challenges of a rare disease. “None of this is possible without the patients and the families of those patients who put their trust in us,” he said. “When we’re meeting for the first time, it is often a tremendously difficult situation for them because they’ve just been told of a diagnosis they didn’t anticipate in their baby, which is about the worst thing you could think of that a parent would go through. And yet, they still put their trust in us and say, ‘Yes, I want to work with you all.’ ”

Hear more from Dr. Kimberlin on the Children’s of Alabama PEDSCAST

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Inside Pediatrics | Children’s of Alabama