Patients with “brittle bone disease” may soon have a new drug option.
“Brittle bone disease,” a colloquial term for osteogenesis imperfecta, is a group of genetic diseases that affect the metabolism of bone matter, often causing bones to be more fragile than they should. People with the condition are more likely to suffer fractures, whether from minor injuries or no injuries at all.
The disease is caused by a mutation in one or more of the genes that regulate bone metabolism and bone density.
Anyone can develop the disease, but those with a family history are more at risk. It’s considered a rare disease, and it is estimated that one out of every 16 to 20,000 infants will have it at birth, with a similar rarity for people who develop it later in life.