https://www.gosh.nhs.uk/our-research/our-research-infrastructure/nihr-great-ormond-street-hospital-brc/brc-news/drug-duchenne-muscular-dystrophy-shows-promise-clinical-trial/
Drug for Duchenne Muscular Dystrophy shows promise in clinical trial
21 Aug 2017, 12:02 p.m.
An international clinical trial has found that the drug ataluren can improve mobility for children with a severe form of Duchenne muscular dystrophy (DMD).The trial was led in part by GOSH researchers Professor Francesco Muntoni, Clinical Paediatric Neurologist at GOSH, and Professor Thomas Voit, Director of the National Institute for Health Research (NIHR) GOSH Biomedical Research Centre.
DMD is a muscle wasting condition caused by mutations in the genetic code, which result in a lack of dystrophin – a protein that maintains muscle strength and structure. DMD affects around 2,500 boys in the UK but there are currently few treatment options. Patients progressively lose the ability to walk and usually need to use a wheelchair by the time they are in their early twenties.
In around 13% of DMD patients, a specific error in the genetic code called a ‘stop mutation’ means that a shorter non-functioning version of dystrophin is produced. In the trial, researchers tested the drug ataluren, which overcomes this stop mutation and restores some of the body's ability to produce dystrophin.
After taking ataluren three times a day for a year, a subgroup of patients with DMD showed an improvement in the six minute walking test, a measure of mobility used to indicate muscle strength, when compared to patients given a dummy drug or placebo.
Professor Voit said: “This research shows that ataluren can slow disease progression in a subset of DMD patients with a specific type of gene mutation known as a stop mutation). This is a highly targeted approach and is one of several trials underway at GOSH aiming to bring cutting edge treatments to patients with this debilitating condition”.
This Phase 3 trial, which was recently published in The Lancet, recruited 230 boys between the ages of 7 and 16 from 18 countries across the world. GOSH patients on the trial were treated in the purpose-built NIHR GOSH Clinical Research Facility under the care of expert staff.
Following promising results from Phase 2 trials, the UK's National Institute of Clinical Excellence (NICE) last year agreed that ataluren should be made available to DMD patients carrying stop mutations as part of a five year 'managed access' programme, while more data is collected on its ability to delay the loss of walking ability. The results of the latest trial, along with other research currently underway, aims to provide this evidence.
If successful, ataluren will be continue to be available to DMD patients over the age of five. The drug is also under evaluation by the US Food and Drugs Administration (FDA).
Read more about Joshua's experience of taking part in a clinical trial for Duchenne muscular dystrophy at GOSH.
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