New treatment approach for children with short-limbed dwarfism

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 an 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 characterized by disproportionate short stature and 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 treatment starts early.

The trial assessed the effect of administering infigratinib, an oral treatment option, to 114 randomly assigned children with achondroplasia ages 3–17. In total, 75 patients received infigratinib, and 39 received a placebo.

The trial results, published in June in NEJM, suggest that once-daily oral infigratinib treatment for 52 weeks resulted in a significantly greater increase in growth from baseline than placebo treatment.

Salusky said the 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.”

The editorial was co-written by Dr. Harald Jueppner of Massachusetts General Hospital.

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