New Hope for Rare Bone Diseases: Promising Clinical Trial Results
Inozyme Pharma’s ongoing clinical trials show encouraging signs that its investigational treatment could prevent or reverse rickets in children with rare genetic disorders.
By
Lana Pine
| Published on February 13, 2025
2 min read
In an interview with The Educated Patient, Douglas A. Treco, Ph.D., CEO and chairman of Inozyme Pharma, shared promising updates on the company’s efforts to develop a treatment for rare genetic conditions that lead to severe bone disease in infants and children. With early results from the ENERGY-1 trial showing improvements in survival rates and potential prevention of rickets, he is optimistic about the future of their research.
Treco says the most notable finding so far is that of the five infants treated with INZ-701 who were under 1 year old, four are still alive. Given the severity of this disease, survival rates for these infants are low, so this is encouraging progress.
INZ-701 targets hypophosphatemia, which leads to poor bone growth and, ultimately, rickets. In the study, children who would typically develop worsening hypophosphatemia were able to stabilize or even improve their phosphate levels. Results give Treco confidence that rickets may not develop in these patients.
In a few of the children who are now older than 1, X-rays show no signs of rickets, which supports the belief that preventing hypophosphatemia could allow normal bone growth. In a larger ongoing study in children aged 1 to 13 years old, Inozyme Pharma is directly evaluating whether they can treat and improve rickets, which is the primary focus of their research and what they hope will lead to regulatory approval of this drug.
As the infant study is ongoing, Treco and his team will continue adding participants regularly.
The most critical study they are conducting now — the ENERGY-3 trial — is in children at risk for rickets. To be eligible, these children must already have rickets, and the goal is to reverse it. By January 2026, they will be able to analyze the data to see whether the treated children show improvement compared with the untreated group.
If the results are positive, the next step will be to submit a biologics license application (BLA) in the United States and a marketing authorization application (MAA) in Europe. If all goes well, the drug could potentially receive regulatory approval in early 2027.
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