Bone and cartilage disorders
Bone and cartilage disorders in children can take many forms, including short stature, brittle bones or very short fingers and toes.
Bones, cartilage and joints allow us to move freely, but the way they grow and function can be faulty. These faults are seen throughout different bone and cartilage disorders that can affect children, with varied symptoms.
They include rare genetic disorders which prevent normal development and function of the skeleton.
Examples include achondroplasia, the most common type of dwarfism, and brittle bone disease, which is characterised by bones that break easily.
Complications are life-long and range from short stature and childhood arthritis to severely fragile bones and teeth problems. Some can lead to premature death.
Advancing our understanding of these disorders helps affected children and adolescents and provides insight into bone and cartilage disorders such as osteoarthritis and osteoporosis which are more common in adults.
Who does it affect?
Who does it affect?
- Every year about 100 babies are born in Australia with a genetic bone and cartilage disorder. Genetic disorders can be inherited or may result from a change in a gene.
- Achondroplasia, a form of dwarfism, is the most common genetic bone and cartilage disorder, occurring in about one in 25,000 children born in Australia.
- Osteogenesis imperfecta (brittle bone disease) is rarer, affecting about seven in 100,000 births. Bones are soft, fragile and break easily.
- Juvenile osteoporosis is rare in children and usually caused by an underlying medical condition, medications or lifestyle factors.
Our bone and cartilage research
Our bone and cartilage research
Our musculoskeletal experts work to understand the genetic basis of bone and cartilage disorders and translate these findings into tangible outcomes for children and their families.
We recently led a ground-breaking trial of the drug vorsoritide for children with achondroplasia dwarfism. Results showed boosted growth and increased bone development – the first time this was reported worldwide. Continued studies are underway to investigate vorsoritide as a potential treatment for children with this form of dwarfism.
Our team also uses stem cell technology to investigate how bone and cartilage disorders develop. Using a sample of the patient’s skin cells or blood cells, we grow laboratory models of inherited human cartilage and bone disorders. This improves our understanding of how gene mutations lead to these diseases and allows us to better explore therapies.
Impacts of our research
Impacts of our research
- osteogenesis imperfecta (brittle bone disease)
- metaphyseal chondrodysplasia
- spondyloepiphyseal chondrodysplasia
- metatropic dysplasia
- familial digital arthropathy brachydactyly
- hypophosphatasia
- and osteoarthritis.
We recently found the TRPV4 gene was responsible for a form of inherited hand osteoarthritis. Mutations in this gene also cause developmental cartilage and bone disorders.
Watch Casper's story about taking part in a clinical trial of vosoritide
Watch Casper's story about taking part in a clinical trial of vosoritide
Our vision
Our vision
By discovering more about how these conditions develop, we aim to identify potential treatments to help improve the lives of children with bone and cartilage disorders.
Where to next?
Where to next?
We are now investigating if four new drugs can be safely used in children with Achondroplasia to improve growth and function. If successful, this will provide more options to personalise treatment in children with achondroplasia. We are also embarking on a new and ground-breaking trial in a condition called Fibrodysplasia Ossificans to evaluate safety, improve function and reduce pain.
Related news
Melbourne team first to recreate bone development in the lab
reNEW researcher have recreated, for the first time, the process for developing and growing long...
Read more
New Murdoch Children's research projects secure federal funding
Testing new treatments for genetic skeletal disorders and improving rapid diagnoses for...
Read more
New drug shown to improve bone growth in children with achondroplasia in global phase III trial
A phase three global clinical trial led by the Murdoch Children's Research Institute (MCRI)...
Drug boosts growth in youngsters with most common form of dwarfism, new study finds
A groundbreaking drug that helps regulate bone development has boosted growth rates in children...
Read moreShare //
