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    International Clinical Trials Day: Our Work in Summary

    By Andi M Skilton, on 20 May 2014

    Gene-cell-therapy-logo-3

    Introduction

    Today, 20 May 2014, is International Clinical Trials Day. This landmark day remembers the pioneering work of James Lind a Scottish naval physician who, in the 1700s, conducted the first controlled clinical study that identified that citrus fruit (containing Vitamin C) was effective in treating scurvy.

    Each year, a number of organisations mark this day with a focus on improving understanding and communication on the importance of controlled clinical trials including the National Institute for Health Research (NIHR) and its NHS partners who are launching their ‘OK to ask’ campaign encouraging patients to ask their doctors about research.

    In support of this day, here at the Gene and Cell Therapy group at UCL Institute of Ophthalmology, we want to highlight our own commitment to improving clinical outcomes for patients with severe vision loss by providing an overview of our on-going clinical trial programme.

    In partnership with the NIHR Moorfields Biomedical Research Centre our clinical trial programme has been running since 2007. We now have two pioneering phase I clinical trials in progress – one treating Leber Congenital Amaurosis Type 2 (LCA2) with gene therapy and the other treating Stargardt Macular Degeneration (SMD) Disease using retinal pigment epithelium (RPE)-derived from embryonic stem cells (ESCs).

    LCA2 and gene therapy

    LCA is an untreatable, inherited eye disorder that affects around 1 in 80,000 people. Shortly after birth patients experience a progressive loss of vision caused by a mutation in at least one of a number of possible genes. For mutations in the gene RPE65 successful studies in animals have shown that gene therapy, which involves injecting a harmless virus containing a normal RPE65 gene into the eye, can restore some aspects of vision.

    This research led to a first-of-its-kind clinical study in humans in 2008 led by Professor Robin Ali, Head of the Department of Genetics, UCL Institute of Ophthalmology. Early results published in the New England Journal of Medicine, show that the experimental treatment appears to be well tolerated and can improve sight.

    SMD and stem cell therapy

    In another first of its kind study in humans, started back in 2012, Professor James Bainbridge, Professor of Retinal studies at UCL Institute of Ophthalmology and Consultant Ophthalmologist at Moorfields Eye Hospital NHS Foundation Trust, has been assisting Advanced Cell Technology (ACT), a US based company, investigate the potential of stem cells for people affected by macular degeneration. SMD is another untreatable condition where onset begins in early childhood (between the ages of six and 12 years). In children with SMD the macula, which is responsible for our central and fine vision, begins to degenerate causing loss of vision that extends into adulthood.

    Participants attend Moorfields regularly for sight assessment and ocular imaging in our pioneering retinal imaging facility. Over the next two years we will continue to collect data to identify any safety concerns and any indication of benefit.

    The future

    These important and innovative trials are only the first step in demonstrating the extent to which gene and cell therapies for inherited eye disease can slow, halt or even reverse severe vision loss. Our early data suggests that these treatments are well tolerated and further studies will be required to show the extent to which they will benefit patients.

    We are committed to ensuring that we continue to be innovators in this field and further clinical studies into other inherited forms of vision loss are planned. Our group has previously shown that gene therapy can restore vision in a mouse model of achromatopsia and in 2013 we were delighted to announce that we had received funding from the Medical Research Council for the development of a gene therapy to treat the most common form of achromatopsia in humans (caused by a mutation in the gene CNGB3).

    Achromatopsia affects 1 in 30,000 people and causes the complete absence of colour vision from birth, a severe reduction in central visual, extreme sensitivity to light and impaired vision in daylight. We are currently seeking the necessary approvals to begin a clinical study in humans and hope to begin recruiting the first patients later this year.

    Closing comments from Professor James Bainbridge

    “We hope that in the future we will be able to extend these technologies to other diseases of the retina. The data we collect from these early clinical trials are already proving invaluable to our research both increasing our understating of how the retina functions and helping us to refine and improve our techniques, the benefits of which we hope to be able to pass onto other clinicians so that they in turn will be able to improve the outcomes for their patients with advanced vision loss.”

    To keep updated with our research please continue to check back on our blog and our website. You can also follow us on Twitter and Facebook and sign up to our annual newsletter.