Oral drug offers promising advance for children with achondroplasia

A phase 3 trial is showing "a potentially giant step forward," in treating children with achondroplasia, UCLA Health's Dr. Isidro B. Salusky wrote in a new editorial published in the New England Journal of Medicine (NEJM). Salusky is a distinguished professor of pediatrics at the David Geffen School of Medicine at UCLA and chief of pediatric nephrology and director of the pediatric dialysis program.

Achondroplasia is a skeletal condition that is characterized by disproportionate short stature, and it can lead to medical, functional, and psychosocial challenges. For children living with achondroplasia, treatments typically require daily or weekly injections, presenting a challenge for pediatric patients. Yet, the effect of medication is most pronounced when started early.

The trial assessed the effect of administering an oral treatment option, infigratinib, to 114 randomly assigned children with achondroplasia 3 to 17 years of age. In total, 75 patients received infigratinib and 39 patients received a placebo. The results of the trial, which were published in June in NEJM, suggest that treatment with once-daily oral infigratinib for 52 weeks resulted in a significantly greater increase from baseline growth than in the placebo group.

Salusky said that this study "provides a promising approach for improving longitudinal bone growth in children with achondroplasia. The oral availability of the drug is particularly suitable for treating infants, who are most likely to benefit from early pharmacologic intervention."

He wrote in his commentary: "Besides addressing a major unmet need for such patients, the current trial highlights the value of international collaborations for studying therapeutic interventions in children affected by rare genetic disorders involving bone."

This editorial was co-written by Dr. Harald Jueppner from Massachusetts General Hospital.