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Drug trial for dwarfism

Research News
Friday, May 15, 2015 - 10:30am
Murdoch Children's researchers are leading a world first trial that aims to decrease health complications for young people with achondroplasia.

Achondroplasia is the most common type of dwarfism. Dwarfism generally refers to a group of genetic disorders characterised by shorter than normal skeletal growth. The majority of children born with this condition have average sized parents.

Led by Professor Ravi Savarirayan, the study involves a six month growth trial and two year drug trial.

The drug, made by US pharmaceutical company BioMarin, has been proved successful in animal trials, and will be given to 15 Victorian children as part of the international study – Sam Puleio is one of the first to be involved worldwide. If successful it will prevent or decrease the need for these children to undergo risky surgery and also potentially increase their final height. The drug could be given as a daily injection to children from the age of four until the end of puberty, when growth plates in bones close to finish growing.

A parent’s perspective: Achondroplasia Drug Trial

By Natalie Puleio

Our son Sam was born six weeks early and with few issues he came home to our small country town of Robinvale. Soon after though, our paediatrician told us Sam’s growth was of concern. After this, we were sent to Melbourne to visit Dr Ravi Savarirayan where Sam underwent some tests. Following this, Sam was diagnosed with achondroplasia, the most common type of dwarfism.

The Puleio family
The Puleio family

As parents we were naturally devastated and had little idea of what this diagnosis might mean for Sam; how it would affect him physically, mentally and socially. We went through every type of emotion you can think of, from feelings of guilt, denial, anger and frustration, to love and joy, all at once.

In October 2012 we received a letter from Dr Ravi, who is also a clinical geneticist and researcher at Murdoch Children's Research Institute, regarding a growth study trial which would be followed by a drug trial. Sam was put onto a list and luckily met the extensive criteria.

The drug trial aims to improve Sam’s bone growth, especially in the later years of his life, which will hopefully ease the likelihood of arthritis, curvature of the spine, and bowed legs- all of which tend to result in operations. We hope the drug can reduce the chance of these problems and keep Sam active and pain free.

Our main motivation for being involved with this trial has been our confidence in Dr Ravi and his team, who have been working tirelessly to find a new treatment for kids like Sam. We know that Dr Ravi is so passionate about finding a way to help benefit his patient’s livelihoods. We feel blessed that we are able to be involved with his work. Sam is an active, healthy boy and we want to give him the chance to continue his active life; that would be the one wish we as a family could ask for. Throughout the study, Sam has been cooperating extremely well with nurses taking blood, measuring him, observing him. He also has daily injections which were a little emotional for him at the start but he now understands the reason behind them and is comfortable with them. He feels quite important at times!

We have annual appointments with Dr Ravi and we always remember Dr Ravi saying “Sam is Sam and no one else”. Sam is now 10 and his life is normal, low key and quiet. When at home he is riding his motorbike, playing football with his dad, playing around with his little brother or his older sisters. He’s competed in athletics and swimming carnivals, he has even run around the oval for cross country. What Sam has given his family is humour, strength and determination. He is full of life and more.

Find out more about Professor Ravi Savarirayan's work: