The first paediatric patients have received a pioneering new gene therapy that can restore eyesight at Great Ormond Street Hospital.
Babies born with an inherited retinal disorder, known as Leber’s Congenital Amaurosis (LCA), have poor sight which swiftly deteriorates, with many ultimately losing their vision completely in childhood. The team at GOSH have now treated two patients with the condition.
The condition prevents cells in the eye from making proteins that are essential for normal vision. The gene therapy restores the ability to make normal proteins like that in a healthy functioning eye. Until now no treatment has been available.
This life-changing treatment for children and adults – voretigene neparvovec – is the first in a new generation of gene therapies directed at one of the genetic causes of LCA that can be directly administered to patients, in this case through an injection. Many patients in the trials recovered their night time vision with this treatment.
The treatment will initially be available from three national specialist centres in Manchester, London, and Oxford, with the option to roll-out the treatment to other hospitals. GOSH and Moorfields Eye Hospital are providing a joint service across the two Trusts in London, bringing together their specialist expertise to provide treatment to both children and adults.
Robert Henderson, consultant ophthalmologist at Great Ormond Street Hospital and Moorfields Eye Hospital said: “Loss of vision can have devastating effects, particularly for children and young people, but after many years of research it is incredibly exciting to be able to provide treatment to the first NHS-funded patients with this pioneering gene therapy.
“We are delighted to bring together the specialist expertise of both Great Ormond Street Hospital and Moorfields Eye Hospital to provide a treatment for this rare disease where there previously wasn’t anything available. This cutting-edge therapy, can make a huge difference for children and young people born with this life changing and rare disease.”
Patients will benefit from voretigene neparvovec, also known as Luxturna, after NHS England reached a NICE-endorsed deal with manufacturer Novartis to fund the drug.
It is expected that this will allow up to 100 patients living with a retinal dystrophy, caused by a specific gene mutation, to have access to treatment for the first time.
“While the first wave of gene therapies involved sampling a patient’s cells and manipulating them in the laboratory, Luxturna delivers the gene-correcting system directly into the body. There are many ongoing clinical trials of this kind of in vivo (‘in body’) ocular gene therapy, but Luxturna is the first to be licensed for use in the UK.”
Early evidence suggests the approach, using modified viruses known as an adeno-associated viral (AAV) vectors, could provide a safer and more effective long-term treatment for some conditions, particularly where a specific site – such as the eye – can be targeted, or where cells cannot be easily extracted from the patient.
The drug will be manufactured on site for the London centre at the newly opened Zayed Centre for Research into Rare Disease in Children which brings together clinicians and researchers under one roof to drive forward new treatments and cures for children with rare and complex diseases.
This work is underpinned by support from the National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) and GOSH Charity.
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Notes to Editors
About Great Ormond Street Hospital for Children NHS Foundation Trust
Founded in 1852, Great Ormond Street Hospital is one of the world’s leading children’s hospitals with the broadest range of dedicated, children’s healthcare specialists under one roof in the UK. With more than 252,000 outpatient and 43,000 inpatient visits every year, the hospital’s pioneering research and treatment gives hope to children from across the UK with the rarest, most complex and often life-threatening conditions. As an international centre of excellence in child healthcare, our patients and families are central to everything we do – from the moment they come through the door and for as long as they need us. Visit www.gosh.nhs.uk
About Great Ormond Street Hospital Children’s Charity
Great Ormond Street Hospital Children’s Charity needs to raise money to support the hospital to give seriously ill children, the best chance for life. The charity funds research into pioneering new treatments for children, provides the most up to date medical equipment, funds support services for children and their families and supports the essential rebuilding and refurbishment of the hospital. You can help us to provide world class care for our patients and families. For more information visit www.gosh.org
About the UCL Great Ormond Street Institute of Child Health (ICH)
The UCL Great Ormond Street Institute of Child Health (ICH) is part of the Faculty of Population Health Sciences within the School of Life and Medical Sciences at University College London. Together with its clinical partner Great Ormond Street Hospital for Children NHS Foundation Trust (GOSH), it forms the UK's only paediatric National Institute for Health Research (NIHR) Biomedical Research Centre and has the largest concentration of children's health research in Europe. For more information visit www.ucl.ac.uk/child-health
About the NIHR
The National Institute for Health Research (NIHR) is the nation's largest funder of health and care research. The NIHR:
• Funds, supports and delivers high quality research that benefits the NHS, public health and social care
• Engages and involves patients, carers and the public in order to improve the reach, quality and impact of research
• Attracts, trains and supports the best researchers to tackle the complex health and care challenges of the future
• Invests in world-class infrastructure and a skilled delivery workforce to translate discoveries into improved treatments and services
• Partners with other public funders, charities and industry to maximise the value of research to patients and the economy
The NIHR was established in 2006 to improve the health and wealth of the nation through research, and is funded by the Department of Health and Social Care. In addition to its national role, the NIHR supports applied health research for the direct and primary benefit of people in low- and middle-income countries, using UK aid from the UK government.