MONDAY, Feb. 21, 2022 (HealthDay News) — An experimental drug may help build bone mass in some adults with a rare brittle-bone disease, a small preliminary study suggests.
The disease is called osteogenesis imperfecta. It’s caused by defects in certain genes involved in making collagen — a key protein in the body’s connective tissue. Osteogenesis imperfecta (OI) is present at birth, and may leave children with soft bones that are deformed or break easily — though the severity of the condition ranges widely.
While experts have known the culprit genes involved in osteogenesis imperfecta, the new study points to a mechanism in the disease process: overactivity in a protein called TGF-beta.
And when the researchers infused eight adult patients with a drug that inhibits the protein, five showed an increase in bone density.
The findings are preliminary, and much work remains ahead, stressed researcher Dr. Brendan Lee, a professor of molecular and human genetics at Baylor College of Medicine in Houston.
“One has to be cautious,” he said, “because more bone does not necessarily mean better bone.”
But the broader hope is that by understanding the mechanisms of OI, better treatments — possibly with benefits outside the bone — can be developed, according to Lee.
“This is not only a bone disease,” he said. “This is a connective tissue disease.”
Depending on the severity of the condition, people can also suffer unstable joints, weak muscles, skin that bruises easily, hearing loss or underdeveloped lungs.
At this point, Lee said, it is unknown whether the drug used in this study, called fresolimumab, can affect those kinds of symptoms.
Osteogenesis imperfecta is rare, occurring in 1 out of every 10,000 to 20,000 births worldwide, according to the U.S. National Institutes of Health.
There are no medications approved by the U.S. Food and Drug Administration specifically for the disease. But osteoporosis medications called bisphosphonates are a mainstay of treatment for children with osteogenesis imperfecta.
The drugs can increase kids’ bone density and help them be more active, said Dr. Cathleen Raggio, a pediatric orthopedic surgeon at the Hospital for Special Surgery in New York City.