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Matching the Best Treatment to Rare Childhood Diseases

Author: Stacy Kish

Thanks to tools that can scan the genome, precision medicine offers the hope of new therapies for many rare diseases. At first, these advances seem miraculous, but many new treatments become mired in thorny ethical, financial, and administrative issues that cloud their application.

“In the past four to five years, we have gained access to new treatments that are transforming how we care for children with rare diseases,” said Josh Bonkowsky, M.D., Ph.D., Chief of the Division of Pediatric Neurology at U of U Health. “Patients and families often do not know what therapy is best and most effective for a given condition.”

Researchers at University of Utah Health developed the Neurology Therapeutics Committee to bring experts together to review patient cases and provide impartial advice to physicians, patients and their families, and insurance companies to match the best therapy for each patient. In the past two years, the Committee has reviewed and presented recommendations for more than 50 patients. The results of this committee-based approach is available in the January issue of the journal Child Neurology Open.

“The committee provides a clear, unbiased, balanced review of the [medical] situation and a recommendation that [a physician] can work with,” Bonkowsky, senior author on the paper, said. “Without the committee structure, [physicians] often get multiple points of view that are not synthesized.”

Bonkowsky and his colleagues convened the Neurology Therapeutics Committee, which consists of two pediatric neurologists, a pediatric pulmonologist, and adult neuromuscular specialist, a physical medicine and rehabilitation physician, as well as a non-physician clinical staff member. During the consult, the primary physician presents the patient’s case and the proposed treatment. The panel discusses the risks and benefits of the new treatment in each case.

According to Bonkowsky, this committee matches the right therapy for the disease, to the patient. To date, the committee has met 23 times and reviewed 58 patient cases that include spinal muscular atrophy (48), Duschenne muscular dystrophy (8), pediatric autoimmune neurological syndrome (1), and G protein subunit alpha-O1 encephalopathy (1). Many of these conditions greatly restrict life expectancy. Of the cases reviewed, therapy was approved for 56 patients. Insurance companies approved treatment in 54 cases.

This forward-thinking approach prepares for a future where precision medicine will offer more treatments for rare conditions. According to Bonkowsky, the committee will need to refine recommendations to provide gradations in their responses to address more subtle cases that are difficult to evaluate. He believes that with time, families and insurance companies will continue to recognize and trust the committee’s recommendations.

“This approach is a unique take on bridging the gap between groups that often do not communicatephysicians, patients and families, and insurance companies,” Bonkowsky said. “Medicine is so complex and expensive, it is good to have a safe space for folks to work together.”

Bonkowsky was joined in this research by Edward Clark, Russell Butterfield, and Francis Filloux at U of U Health and Primary Children’s Hospital, Salt Lake City. The work, titled Development, Implementation, and Use of a Neurology Therapeutics Committee, received support from the National Institutes of Health.