Riley first to receive life-changing new treatment for dwarfism

When Riley’s mum, Louise, received a call from a friend telling her that a new treatment for her son’s lifelong condition had been added to the Pharmaceutical Benefits Scheme (PBS), she burst into tears.

Riley was over the moon, becoming the first patient at The Children’s Hospital at Westmead (CHW) and one of the very first in NSW to receive Voxzogo® (vosoritide) for achondroplasia earlier this month.

Achondroplasia is a type of rare genetic bone disorder and the most common cause of skeletal dysplasia, or dwarfism. Affecting about one in 20,000 babies in Australia, it is caused by a genetic mutation which results in impaired bone growth and disproportionately short limbs.

Children, like Riley, impacted by achondroplasia grow around four centimetres per year, instead of the usual six to seven centimetres. Until now, there hasn’t been an effective treatment, with many children facing a lifetime of severe complications from the condition.

Dr Louise Tofts, Paediatric Rehabilitation Physician in Kids Rehab at CHW said the treatment will be transformational for children like Riley.

“Before now, we haven’t had any effective treatment options for these kids, so to have access to something that reduces the physical disability and is likely to reduce the medical needs that come with having severe short stature is just incredible,” Dr Tofts said.

Voxzogo® (vosoritide) works by directly targeting the growth plates of the bones to promote new bone growth in patients who are still growing.

The newly approved treatment was developed in international clinical trials which included CHW, with The Clinical Research Centre (CRC) partnering with Kids Rehab at CHW to run one of the 24 clinical trial sites. It is now the first and only approved treatment on the PBS targeting the underlying cause of achondroplasia.

Riley is one of more than 300 children around Australia expected to benefit from the treatment each year. Just like eating their breakfast and brushing their teeth, the once-daily injection of vosoritide will become a part of their daily routine until their growth plates close.

For Riley, the treatment is hoped to boost his growth by as much as 1.5cm per year, helping to reduce the physical disability associated with his condition and increase his independence.

“When I told Riley, he was jumping up and down with excitement,” Louise said.

“All Riley wants is to be as tall as his friends so he can keep up with them on the soccer field and now he may be able to do that.”

Louise said she is beyond grateful to the team at CHW for the efforts they have gone to, to care for her son.

“The team at CHW have been absolutely brilliant, and I can’t thank them enough for all the work they have done to help get to where we are today and provide Riley with this incredible treatment.”