University of Iowa researchers have made a significant breakthrough in gene therapy, successfully testing a technique to prevent craniosynostosis—a condition causing premature fusion of the skull in infants. This innovative approach could potentially eliminate the need for invasive surgeries and improve the quality of life for affected children.
Craniosynostosis occurs when the joints between a baby’s skull bones close prematurely, restricting space for brain growth and potentially leading to deformities. The condition affects approximately 1 in 2,200 live births, making it a significant concern for pediatric health specialists.
Innovative Gene Therapy Technique
The research team, led by Brad Amendt, identified a pivotal gene, miR-200a, and developed a nano-sized delivery system. This system was injected beneath the scalps of newborn mice, where it released the gene to stimulate its expression. The increased gene activity prevented the skull joints, or sutures, from fusing, thereby allowing normal brain expansion.
“This is the first demonstration of a gene therapy approach for craniosynostosis that we know of,” said Brad Amendt, professor of anatomy and cell biology. “This will save a lot of trauma for children.”
Amendt’s team collaborated with Kevin Rice from the College of Pharmacy to create a 95-nanometer-sized package that delivered the gene effectively. The nano-packets were administered to eight genetically predisposed infant mice, none of which developed craniosynostosis. The sutures remained open for 17 days, demonstrating the treatment’s efficacy and safety.
Understanding Craniosynostosis
Craniosynostosis involves more than 40 genes, but the focus on miR-200a emerged from its role in craniofacial development. Amendt’s initial experiments, which involved blocking the gene in mice, confirmed its importance as those mice developed the condition.
Current treatments for craniosynostosis often involve surgeries such as endoscopic strip craniectomy, which can be invasive and traumatic. The potential for a gene therapy alternative represents a significant advancement in pediatric care.
Looking Forward: Clinical Trials and Implications
The research team is now seeking approval from the U.S. Food and Drug Administration to begin clinical trials on human infants. Amendt hopes to start these trials within the next one to two years, bringing this promising therapy closer to clinical application.
“My research is really focused on better patient health and how we can help patients,” Amendt stated. “So, it’s very satisfying for us to be able to show how we have a potential treatment for children with craniosynostosis.”
The study, titled “Inhibition of craniosynostosis and premature suture fusion in Twist1 mutant mice with RNA nanoparticle gene therapy,” was published in the journal Science Advances. The research was funded by the National Institutes of Health, the University of Iowa, and the Department of Orthodontics.
As the medical community awaits the results of human trials, this development represents a hopeful step forward in treating craniosynostosis. Should the trials prove successful, it could pave the way for less invasive, more effective treatments for numerous genetic conditions affecting infants.
