https://www.gosh.nhs.uk/our-research/our-research-infrastructure/nihr-great-ormond-street-hospital-brc/brc-news/accelerated-approval-request-new-drug-rare-childhood-muscle-disorder/
Accelerated approval request for a new drug for a rare childhood muscle disorder
9 Sep 2015, 4:41 p.m.

A drug for Duchenne Muscular Dystrophy (DMD), originally developed by BRC Theme Lead Professor Francesco Muntoni’s Consortium in the UK, has been filed by Sarepta Therapeutics for accelerated approval by the United States Food and Drug Adminstration (FDA).The drug Eteplirsen is an antisense oligonucleotide that is designed to enable the production of a functional truncated dystrophin protein to alleviate some of the symptoms of DMD.
DMD is an X-linked rare degenerative neuromuscular disorder that causes severe progressive muscle loss and premature death. It is one of the most common fatal genetic disorders, affecting approximately one in every 3,500 boys born worldwide. A devastating and incurable muscle-wasting disease, DMD is associated with specific errors in the gene that codes for dystrophin, a protein that plays a key structural role in muscle fibre function. The condition is universally fatal, and death usually occurs before the age of 30.
The findings from the original study were reported in the Lancet in 2011. The first patient to receive the systemic injection of this novel compound was performed in the BRC-supported Somers Clinical Research Facility at GOSH.

Young people donate tissue samples to unlock mysteries of arthritis
A new groundbreaking study led by researchers at the University of Birmingham, Great Ormond Street Hospital, University College London and Birmingham Children’s Hospital has revealed important clues into what is driving arthritis in children.

Toddler doing well after receiving newest gene therapy available on NHS
A toddler with a life-limiting and life-threatening rare disease is the youngest to be treated with the newest gene therapy available on the NHS at GOSH.

Genes may help to predict which children will respond well to arthritis treatment
A team of researchers at Great Ormond Street Hospital (GOSH) and University College London (UCL) have identified a set of genes that could be used to help doctors predict which children will respond well to treatment for juvenile idiopathic arthritis.

Making it easier to invest in frontline care
GOSH and UCL have signed a landmark agreement to simplify the commercialisation of any joint research and innovation and ensure any financial proceeds are shared equally.