Groundbreaking trial shows promising results for children with achondroplasia

Sam Short, 9, riding his bike

Results of a trial, which took place at Evelina London, have been published in the New England Journal of Medicine.

Evelina London has been taking part in a clinical trial that is helping children with achondroplasia to grow. Results of the trial have shown that a new treatment called vosoritide helped increase the growth rate in children with achondroplasia by 50%.

Achondroplasia (also known as dwarfism) is a condition caused by a gene mutation which means that bones don’t grow properly. It can lead to other health issues including developmental delay, sleep apnoea, and chronic pain. Young people like Sam Short, 9, from Fulham in west London, have seen positive results from taking part in the trial.

Dr Melita Irving, a clinical geneticist at Evelina London and local principal investigator for the study, said: “The aim of this study was to reduce the serious complications of achondroplasia, which can be far reaching and can really affect patients’ quality of life. Being able to help prevent these complications means that children like Sam will be less likely to need interventions like surgery, which is a really fantastic result. We are now entering a phase of the trial where we find out just how effective the treatment is.”

Sam’s mother, Jenn Short, said: “I asked for Sam to be referred to Evelina London when I found out the hospital has an achondroplasia clinic. I found out about the trial not long after. 

“I was a bit nervous about him taking part at first as I didn’t know whether it was going to work. But the team at Evelina London were very supportive. Sam takes one injection every morning and he has regular appointments to monitor his progress.

“The trial has been completely life-changing for Sam. He can now stand straighter and is growing at a faster rate. While Sam has always been an extroverted, outgoing boy, it has really helped to increase his independence and confidence.

“Sam can now link his hands over his head, tie his shoe laces and ride a bike. His feet weren’t able to touch the pedals before. He is now able to keep up with his friends when playing school sports and he has recently started playing for the school hockey and cricket team. The study has made a huge difference to his life.”

Last October, Sam raised more than £4,000 for Evelina London by taking part in a mini triathlon with his sister Issy, 11, and brother, Alex, 6, during dwarfism awareness month. Sam swam 200m, cycled 3k and ran 1.2k in his local swimming pool and park. 

Jenn said: “I’m so proud of Sam. He really tested himself to the limit by doing the triathlon. It was really lovely watching him doing it alongside his brother and sister. The study has made it possible for Sam to do things like this.

“Taking part in the triathlon was Sam’s way of giving back and saying thanks for the fantastic care he has received. Evelina London is a very special place. Sam’s medical team are like a family.” 

Sam and his family met The Duke and Duchess of Cambridge last year at a special event at the children’s hospital to announce Her Royal Highness as Patron of Evelina London.

Jenn Short said: “We were absolutely delighted to meet The Duke and Duchess of Cambridge. The Duchess spent lots of time speaking to Sam and also spoke to his sister.

“She was very interested in the care Sam has been receiving at Evelina London. She also commented on how smart he looked and said the slide in the outpatients department looked like fun.”

Dr Melita Irving said: “Sam is a very inspirational young boy. It has been a real pleasure getting to know him and his family.

“We are very thankful for all the money he has raised for Evelina London. The hospital has been providing the very best care possible to our patients and their families for 150 years.”

The trial was funded by BioMarin and led by Melbourne’s Murdoch Children’s Research Institute. Guy’s and St Thomas’ was the lead site in Europe.

Our Evelina 150 Stories

Sam Short's journey is part of a series of Evelina 150 Stories that we are sharing in celebration of our special 150th anniversary year. Throughout 2019, we are highlighting some of our amazing patients and also encouraging them to blog about their experiences.

150 years ago, Evelina London was born out of love, when Baron Ferdinand de Rothschild founded the hospital in memory of his wife, Evelina. Since 1869, we've been saving lives, improving health and inspiring better futures.