https://www.gosh.nhs.uk/our-research/our-research-infrastructure/nihr-great-ormond-street-hospital-brc/brc-news/precision-medicine-improves-growth-children-rare-form-rickets/
Precision medicine improves growth for children with a rare form of rickets
6 Jul 2018, 10:39 a.m.
A new, targeted drug has been shown to significantly improve growth and control of rickets in children with X-linked hypophosphataemic rickets (XLH), a serious condition affecting about 300 children in the UK.
XLH is caused by genetic mutation that leads to excess activity of fibroblast growth factor (FGF23) which causes the kidneys to leak too much phosphate. Symptoms include joint pains, weaker bones, bowing of the legs and impaired growth.
In the international study, 52 children aged 5-12 years old, including three patients from Great Ormond Street Hospital (GOSH), were treated every two or four weeks with burosomab, an antibody to FGF23 that reduces phosphate losses in the urine. Burosumab inhibited FGF23 and restored phosphate levels. After 64 weeks of treatment with burosumab, patients reported less pain and joint X-rays showed a 50% reduction in disease severity and significantly improved growth rates.
“This is a very exciting development for children with XLH as this is the first drug to act directly on the cause of the condition and the study showed that it led to major improvements in children who were considered well-treated with the standard drugs - phosphate supplements and activated vitamin D". said Dr William van’t Hoff, trial lead at GOSH and Director of the NIHR GOSH Clinical Research Facility (CRF) where trial participants were cared for.
"Children tolerated the fortnightly injections, no child in the trial stopped and all have opted to continue with burosumab”, added Dr van't Hoff.
Following publication of interim results in December 2017, burosumab has received a positive European Commission decision granting a conditional marketing authorisation and has received FDA approval. The results were recently published in the New England Journal of Medicine and an extension study is now ongoing to further investigate the long-term effects of the drug.
This research is just one example of how precision medicine is helping develop targeted treatments for children with complex health conditions.The drug holds promise for improving long-term outcomes for children with XLH and represents an important advance for the patients and their families.
The study was carried out in partnership with Ultragenyx pharmaceuticals and colleagues in the US, the Netherlands and France as well as the NIHR CRFs in Manchester and Birmingham.
Raising awareness on Rare Disease Day
To celebrate Rare Disease Day we invited patients and their families to try out 13 different hands-on and interactive fun and educational science and research activities for children and adults.
Stem cells collected in late pregnancy herald advances in prenatal medicine
A new pioneering approach, developed by researchers at UCL and Great Ormond Street Hospital means human development can be observed in late pregnancy for the first time
A moment of discovery: extraordinary images showcase research at GOSH
A vibrant image helping researchers' study gastrointestinal diseases and their potential treatments has been crowned the winner of the 3rd annual National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre (NIHR
172 years of leaps in medical science at GOSH
Today on Wednesday 14 February, GOSH is celebrating its 172nd birthday. With 2024 being a leap year, we wanted to look back at some of the leaps that we have made in medical science over the past 172 years