New trial shows oral therapy increases growth in children with achondroplasia

New findings from a trial conducted at Children's Hospital Colorado (Children's Colorado) and University of Colorado (CU) Anschutz School of Medicine demonstrate significantly increased growth rates in children with achondroplasia, the most common form of dwarfism. These results highlight Children's Colorado's leadership in pediatric orthopedic research and commitment to advancing therapies for rare skeletal conditions. 

Achondroplasia occurs in 1 out of every 26,000 to 40,000 children and is caused by genetic changes that affect bone growth, proportionality and differences in the shape of the spine and limbs. Children with the condition often have disproportionate shorter stature and may experience health challenges involving the spine, legs, ears, nose and throat. 

Children's Colorado is one of 27 sites in 10 countries to participate in this international, multicenter study around an investigational oral therapy, infigratinib, sponsored by BridgeBio Pharma. In the randomized, double-blind, placebo-controlled Phase 3 trial, 114 children ages 3 to under 18 with achondroplasia were treated with either once-daily oral therapy or placebo over 52 weeks. The children who received oral therapy experienced a statistically significant increase in height - an observed improvement of 2.10 centimeters per year compared to those who received placebo. Furthermore, proportionality improved among children aged 3 to less than 8 years, an age range in which changes in body proportions are most evident. 

"While growth was the primary endpoint of this study, these findings highlight the broader potential for therapies to improve the overall health and daily lives of children with achondroplasia," said Klane White, MD, MSc, Rose Brown Endowed chair of the Orthopedics Institute at Children's Colorado, professor and vice chair of the Department of Orthopedics at CU School of Medicine and study co-author. "As always, our work is driven by a commitment to delivering real, meaningful and measurable improvements for the children and families we serve." 

The medication works by targeting the underlying biology of achondroplasia, a condition caused by overactivity of the FGFR3 pathway, which inhibits bone growth. As a selective FGFR1–3 inhibitor, the oral therapy helps regulate this signaling and support bone development. 

This research reflects our commitment to improving the lives of children with complex musculoskeletal conditions. We're proud to be a part of global efforts that may ultimately broaden treatment options for patients and families." 

Ronald Sokol, MD, chief scientific officer of Children's Colorado

Researchers say the results are promising, but more time is needed to understand the long-term effects, including how the treatment may impact overall health, physical function and quality of life. Most side effects in the study were mild to moderate and similar to common childhood illnesses. No serious side effects related to the medication or deaths were reported. Participants will continue on to a longer-term study. 

Children's Colorado is a leading pediatric hospital and academic medical center dedicated to advancing child health through clinical care, research, education and advocacy. Its nationally recognized Orthopedics Institute provides comprehensive care for children with musculoskeletal conditions, including rare skeletal dysplasias.