Summary: The FDA has awarded a $1.6 million, four-year grant to Debra Weese-Mayer, MD, of Lurie Children’s Hospital for a study on congenital central hypoventilation syndrome. The study will aim to establish clinical, functional, and quality-of-life measures that correlate with disease severity, ultimately guiding therapeutic development. The project will bring together international centers of excellence, patient advocacy groups, and industry partners to improve understanding and treatment of this rare condition, which requires lifelong ventilatory support due to an inability to regulate breathing.
Three Key Takeaways:
- $1.6 Million Grant for CCHS Research
Dr. Debra Weese-Mayer was awarded a $1.6 million FDA grant to study congenital central hypoventilation syndrome, focusing on developing measures that correlate with disease severity. - Collaborative Effort for Treatment Development
The study will involve international centers, advocacy groups, and industry partners to define clinical and quality-of-life assessments for congenital central hypoventilation syndrome, with the goal of advancing therapeutic options. - FDA’s Commitment to Rare Disease Research
This grant is part of the FDA’s ongoing efforts to fund natural history studies that address unmet needs in rare diseases, with three new grants awarded in 2024 totaling over $4.7 million.
Debra Weese-Mayer, MD, of Lurie Children’s Hospital of Chicago, was awarded a $1.6 million, four-year natural history study grant from the US Food and Drug Administration (FDA) Office of Orphan Products Development for a prospective study in congenital central hypoventilation syndrome to establish measures that correlate with disease severity and inform therapeutic development.
The study will bring together international centers of excellence, patient advocacy groups, and industry partners currently developing interventions for congenital central hypoventilation syndrome. The study aims to define clinical, functional, and quality of life assessments to develop effective treatment strategies for this complex disease that includes a life-threatening inability to regulate breathing, necessitating life-long ventilatory support.
In fiscal year 2024, the FDA received 53 natural history grant applications and funded three new grants totaling more than $4.7 million spread over four years to continue to advance the understanding of rare diseases.
The other natural history grants were awarded to the Children’s Hospital of Philadelphia for a retrospective and prospective study in autosomal recessive polycystic kidney disease to create PKDnet to inform future clinical trial design and to the University of Pittsburgh At Pittsburgh for a prospective study in pediatric intestinal failure to inform natural history and develop outcome measures.
The FDA has funded natural history studies since 2016 to help address significant unmet medical needs for patients with rare diseases.
