Study Reports Positive Results for First Potential Oral Achondroplasia Therapy
Research By: Benjamin Cocanougher, MD, PhD
Post Date: October 30, 2026 | Publish Date: June 28, 2026
A Phase III trial found that children receiving oral infigratinib grew significantly faster than those receiving placebo, offering a potential new treatment option for achondroplasia
Key Takeaways
- A Phase III trial found that oral infigratinib significantly increased growth velocity in children with achondroplasia compared with placebo.
- The therapy targets FGFR3, a signaling pathway that is overactive in achondroplasia and affects bone growth.
- Researchers observed encouraging findings related to body proportions, with the largest effects seen in younger children.
- The findings suggest an oral therapy may one day expand treatment options for children and families affected by achondroplasia.
Achondroplasia, the most common form of dwarfism, affects bone growth and can cause health complications beyond short stature. While treatment options have expanded in recent years, all FDA-approved therapies currently require daily or weekly injections.
Now, a Phase III study published in the New England Journal of Medicine suggests an oral alternative may be possible. Researchers found that children with achondroplasia who received infigratinib grew significantly faster than those receiving placebo. Investigators also reported encouraging findings related to body proportions, particularly among younger children.
“While treatment options for achondroplasia have expanded in recent years, all currently approved therapies require injections,” said Benjamin Cocanougher, MD, PhD, site PI for the study and a medical geneticist at CCHMC. “These results suggest an oral therapy may be as effective or more effective than current injectable therapies and provide another option for children and families.”
When Bone Growth Signals Go Awry
Achondroplasia affects how bones develop and grow. Children with the condition experience disproportionate short stature and may face other medical complications, including foramen magnum stenosis, a narrowing at the base of the skull that can require neurosurgical intervention.
The condition is caused by overactivity of fibroblast growth factor receptor 3 (FGFR3), a signaling pathway that helps regulate bone growth. Because excessive FGFR3 activity slows bone development, researchers have long sought ways to reduce its effects.
That biology is what made infigratinib an intriguing candidate. The drug was developed to inhibit FGFR signaling in certain cancers. Researchers hypothesized that the same mechanism could help address the excessive FGFR3 activity seen in achondroplasia.
Testing A Targeted Treatment
The international Phase III trial enrolled 114 children ages 3 to 17 years at 27 sites in 10 countries. Participants were randomly assigned to receive either daily oral infigratinib or placebo for 52 weeks.
The study met its primary goal. Children who received infigratinib experienced a significantly greater increase in growth velocity than those receiving placebo. After one year, the difference between the groups was 1.74 centimeters per year. Children receiving infigratinib reached an annualized growth rate of 5.96 centimeters per year compared with 4.22 centimeters per year in the placebo group.
Researchers also found that children receiving infigratinib showed improvement in height z-scores, indicating they were growing faster relative to expected growth patterns in achondroplasia.
In addition, investigators observed encouraging changes in body proportions. While the study’s overall measurement of upper-to-lower body segment ratio did not reach statistical significance, the effect appeared more pronounced among children ages 3 to younger than 8 years, suggesting the therapy may influence how bones grow as well as how quickly they grow.
“This study highlights how advances in one area of medicine, such as new cancer therapies, can create new opportunities in another. This is particularly important in rare genetic disorders where investment can be challenging due to limited numbers of patients. Rare disease is an excellent opportunity for new treatments, however, as we often know with great precision the molecular differences to target,” says Cocanougher. “In this case, researchers recognized that a drug developed to target an overactive signaling pathway in cancer could also be relevant in achondroplasia, where that same pathway is activated for a different reason.”
Looking Ahead
The treatment was generally well tolerated. Adverse events occurred at similar rates in the infigratinib and placebo groups, and no serious adverse events were considered related to the study medication.
Researchers note that the trial lasted one year, so questions remain about longer-term outcomes, including adult height, quality of life and the effect on medical complications associated with achondroplasia. An ongoing extension study will continue to evaluate the treatment’s long-term safety and effectiveness.
If approved, infigratinib would become the first oral therapy available for children with achondroplasia. Because currently approved therapies for achondroplasia are administered by injection, an oral medication could offer families another treatment option if approved by regulators.
While additional research and regulatory review remain ahead, the findings provide new evidence that targeting FGFR3 signaling can improve growth outcomes in children with achondroplasia and may expand future treatment options for families.
About the Study
Cincinnati Children’s participated in this international research effort through the Division of Human Genetics and the Rare Genetic Disease Program. The study brought together researchers from leading children’s hospitals, academic medical centers and research institutes across North America, Europe, Asia, South America and Australia. Cincinnati Children’s was one of 27 participating sites worldwide.
The study was funded by BridgeBio Pharma.
Watch the video summary of the study.
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| Original title: | Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia |
| Published in: | The New England Journal of Medicine |
| Publish date: | June 28, 2026 |
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The Research Horizons blog features news and insights about the latest discoveries and innovations developed by the scientists of Cincinnati Children's. This blog does not provide medical advice, diagnosis, or treatment. Email researchnews@cchmc.org with questions or ideas.
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