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UCL EyeTherapy Blog


A blog by the Gene and Cell Therapy Group at the UCL Institute of Ophthalmology Department of Genetics


Athena Vision launches; developing gene therapies for devastating eye diseases

By Andi M Skilton, on 24 November 2015

Athena Vision logo

Athena Vision is focused on developing gene therapies for eye diseases based on research conducted at UCL

Today sees the launch of Athena Vision Limited a biopharmaceutical company focused on the development of gene therapies to treat a range of devastating eye diseases causing blindness.

Launched by UCL Business PLC, the wholly-owned technology transfer company of UCL, Athena has entered into a global partnership with MeiraGTx Limited to develop and commercialise Athena’s ocular gene therapy programmes arising from research conducted by Professor Robin Ali, Head of the Department of Genetics at the UCL Institute of Ophthalmology and a leader in the field of cell and gene therapy for the eye.

MeiraGTx, which is developing gene therapies for ocular diseases, neurodegenerative disorders and other diseases, will advance Athena’s pipeline of gene therapies through clinical trials to commercialisation. The partnership will pursue four initial clinical programmes in inherited retinal conditions: Leber congenital amaurosis type 2 (LCA2) caused by deficiencies in RPE65, achromatopsia caused by mutations in CNGB3 or CNGA3 and X-linked retinitis pigmentosa caused by mutations in RPGR. A Phase I/II dose-escalation clinical trial in LCA2 is expected to start in 1Q 2016. Development costs for all four programmes are supported by an undisclosed upfront payment by MeiraGTx.

Athena and MeiraGTx have unparalleled access to resources through their affiliation with the UCL Institute of Ophthalmology and its partner Moorfields Eye Hospital, which together form one of the world’s largest vision research centres, with access to a sizable and diverse patient population. The National Institute for Health Research (NIHR) Moorfields Biomedical Research Centre and Clinical Research Facility will support the translation of the partnership’s gene therapy programs from the laboratory to early-phase clinical testing.

The establishment of Athena accelerates the development of promising new therapies for inherited retinal diseases, which have been supported by the Medical Research Council (MRC), from early-stage research through clinical development via the MRC’s Developmental Pathway Funding Scheme (DPFS).

“With MeiraGTx, we have the necessary technology and critical mass to deliver a pipeline of novel therapeutics to change patients’ lives,” said Professor Ali, UCL Institute of Ophthalmology and Principal Founder, Athena.

“Athena’s leadership has expertise in developing advanced therapeutics from inception through clinical application. With MeiraGTx, we are building an integrated, global gene therapy business that brings together therapeutic and platform-based technologies along with extensive clinical, manufacturing and commercial experience,” said Stuart Naylor, CEO, Athena.

“This new rapid translation of world-leading science into clinical application and large inward investment to the UK highlights the importance of continued governmental support for scientific research,” said Professor Sir Peng Tee Khaw, Director of the NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology.

“We are delighted with such substantial investment to advance novel gene-based therapies. With the formation of this partnership, UK biomedical science continues to demonstrate its importance in the world sphere and, with sustained external and government support, our biomedical research leaders have true potential to bring to fruition innovations in treatment to benefit patients globally,” said Professor Philip J Luthert, Director, UCL Institute of Ophthalmology.

“The formation of Athena and the significant partnership with MeiraGTx provides a clear route for the translation and commercialisation of the world-class research strengths of Professor Robin Ali and his team at the UCL Institute of Ophthalmology. We look forward to supporting Athena as it commences its important work to deliver novel treatments to benefit patients with vision loss across the world,” said Cengiz Tarhan, Managing Director of UCLB.

Registration for Retina Day 2015 Now Open!

By Andi M Skilton, on 10 June 2015

It’s that time once agin for our annual research day for patients and the public. Retina Day 2015 is a free, one day event is organised by the Gene and Cell Therapy Group, UCL Institute of Ophthalmology and NIHR Moorfields Biomedical Research Centre.

Come along to:

  • * Hear about some of the latest innovations in research around gene and cell therapies for inherited retinal disease from world-leading researchers at UCL and Moorfields Eye Hospital and hear from RP Fighting Blindness;
  • * Meet with our world-leading research team and some of the charities who support their work in our exhibitor and poster session;
  • * Take part in a range of interactive activities and share your personal experiences and views about inherited retinal conditions to help shape our future work and priorities;
  • * Get answers to the research questions that matter most to you.

You can register online at: http://www.brcophthalmology.org/events/retina-day-2015.

Or by contacting Andi Skilton at UCL Institute of Ophthalmology on eye.info@ucl.ac.uk or on 020 7608 7982.

Retina Day is free, and open to everyone including patients, carers, the public and those who provide support for people with visual impairment.

Retina Day is supported by a Wellcome People Award.

UCL RPE65 Gene Therapy Trial Shows Benefit in People with Leber Congenital Amaurosis Type 2 for up to Three Years After Treatment

By Andi M Skilton, on 5 May 2015

NEJM 2015 Cover

We are delighted to be able to announce that yesterday, Monday 4th May, the long-term results of our RPE65 gene therapy trial for Leber Congenital Amaurosis Type 2 (LCA2) were published in the prestigious New England Journal of Medicine.

Begun in 2007, this was the world’s first-in-human trial of gene therapy to treat an inherited form of blindness. Twelve patients were enrolled in the trial over the course of six years and followed up over a three year period to assess the long-term safety and benefit of treatment with gene therapy in this Phase I/II clinical trial.

A number of patients enrolled in the trial experienced gains in night vision for a period of two to three years with greatest improvements seen in the first 6 to 12 months after treatment. This is consistent with the published results and interim findings of other studies of RPE65 gene therapy.

This study confirms our preliminary findings (published in NEJM, 2008) that gene therapy can improve night vision, providing further evidence of benefit in inherited blindness.
Professor James Bainbridge, lead clinician for the trial

Our latest results provide confirmation of efficacy but the data, together with results of a parallel study in dogs, indicate that the demand for RPE65 is not fully met with the current generation of vectors. We have concluded that early intervention using a more potent vector, expressing higher levels of RPE65 is likely to provide greater benefit and protection against progressive degeneration.
Professor Robin Ali, lead for the research group

The group has now developed a new, more powerful gene therapy vector and is aiming to test this in a second clinical trial funded by The UK Medical Research Council.

Links to further information:

  • The full results from this study can be found in the NEJM:
  1. Bainbridge, JWB, Mehat MS, Sundaram V, et al. Long-term Effect of Gene Therapy on Leber Congenital Amaurosis. New England Journal of Medicine. 2015;10.1056/NEJMoa1414221
  2. Bainbridge, JWB, Smith AJ, Barker SS, et al. Effect of Gene Therapy on Visual Function in Leber’s Congenital Amaurosis. New England Journal of Medicine. 2008; 358: 2231-9

UCL Researchers Solve a Major Riddle of Retinal Degeneration Research for Retinitis Pigmentosa!

By Andi M Skilton, on 26 January 2015

Today a paper published in Nature Communications from the Gene and Cell Therapy Group at the UCL Institute of Ophthalmology has shed light on why, until now, it has not been possible to effectively restore vision in rd1 mice – the world’s major model for retinitis pigmentosa (RP).

rd1 mice retina at 13 weeks of age and after treatment with PDE6B gene therapy in the first month of life

Seen at 13 weeks of age, PDE6B gene therapy given to rd1 mice in the first month of life preserves rod cells in the retina (Panel 1: ‘normal’ mouse retina – untreated; Panel 2: rd1 mouse retina – untreated; Panel 3: rd1 mouse retina – treated with PDE6B gene therapy)

The rd1 mouse is a model of retinitis pigmentosa caused by defects in the PDE6B gene. The model was first described back in 1924 and is the oldest and most widely used model of retinal degeneration in the world. When light enters the eye and hits the rod cells (a type of photoreceptor – the light sensing cells of the eye), PDE6B is required to help turn this stimulus into electrical signals that can be understood by the brain and translated into an image. In rd1 mice, the defect in PDE6B leads to a rapid degeneration of the retina within the first four weeks of life, which is characterised by the death of rod cells and a complete loss of vision.

Numerous attempts have been made to preserve and restore function to rod cells in rd1 mice in the hope that an approach towards developing a treatment for RP patients could be identified. Past attempts to restore vision in these mice using gene therapy (where the normal gene is put back into the effected cells by means of a harmless virus known as a vector) has had limited success. In this model retinal degeneration happens appears to happen so quickly that there aren’t enough, if any, healthy rod cells left to treat.

In other animal models (such as dogs) where progression of retinal degeneration caused by defects in PDE6B is somewhat slower, a restoration of vision has been possible and has led to the conclusion that in rd1 mice the degeneration happens too quickly to allow for a window of opportunity to treat. This has confused the issue around whether a gene therapy approach to treating this form of RP in people could be effective.

Recent work from our group in other more severe forms of retinal degeneration, specifically that of Leber Congenital Amaurosis Type 4 (LCA4 [caused by a defect in the gene AIPL1]), however, has cast doubts on this explanation of previous findings in rd1 mice. Using an AIPL1 gene therapy we have been able to rescue vision loss in an LCA4 mouse model, which experiences a complete loss of vision in the first three weeks of life; faster than in rd1 mice.

Using the latest in gene therapy vector technology, the team has successfully created a more efficient and rapid acting PDE6B gene therapy then had previously been possible to address the short window of opportunity to treat. This approach was able to not only preserve the rod cells but restore their function as well (see picture above). However, despite this, the team found that these mice were still not responding to a light stimulus suggesting that somewhere in the pathway that carries signals from the rod cells to the brain there must be a second and currently unreported defect blocking the signal.

An analysis of the genetic code of rd1 mice has indeed identified a defect in a gene called GPR179 that had not previously been found in the rd1 mouse strain, but has been previously reported in other mouse strains. This defect affects the retinal bipolar cells – specialised cells that help transmit signals from the photoreceptors of the eye to the nerve cells that carry signals up to the brain. This defect is likely to be found in most of the rd1 mice around the world today and could have been present in this mouse strain for as long as 65 years. Through a process of selective breeding of different mouse models the team have successfully removed the GPR179 defect from rd1 mice and been able to demonstrate that PDE6B gene therapy does indeed lead to the preservation and restoration of rod cell function and that these mice can still sense and respond to light a year after treatment.

This study provides strong evidence to support the potential of gene therapy for RP caused by defects in the PDE6B gene and future studies will be required to assess further the potential. This study by no means suggests that previous work in rd1 mice is not valid but instead highlights the need, where appropriate, to reassess past findings and ensure that future work considers if the presence of a GPR179 defect may be a contributing factor to the results.

Professor Ali Honoured for his Contribution to Research into Retinal Disease

By Andi M Skilton, on 8 September 2014

Prof Robin Ali








Professor Robin Ali, PhD, Professor of Human Molecular Genetics and Head of the Department of Genetics, UCL Institute of Opthalmology has been awarded the Pioneer Award for his work in proof-of-concept studies that have demonstrated the feasibility of using gene therapy and cell transplantation to treat dysfunction and degeneration of the cells of the retina as well as his work on the first clinical trial for inherited retinal degeneration.

The award is presented by the journal of Human Gene Therapy (the official journal of the European Society of Gene and Cell Therapy and British Society for Gene and Cell Therapy, among others) who are commemorating their 25th anniversary by recognising leadership and contributions to the field of gene therapy to treat retinal degeneration leading to blindness. Professor Ali is joined by co-recipiants Jean Bennett, MD, PhD, Perelman School of Medicine, University of Pennsylvania, and William Hauswirth, PhD, University of Florida College of Medicine.

Achromatopsia Might not be as Progressive as Previously Thought

By Andi M Skilton, on 8 September 2014

A recent publication from the UCL Institute of Ophthalmology, Moorfields Eye Hospital, and the Medical College of Wisconsin indicates that for the majority of people with achromatopsia, the condition may not be as progressive as previously suggested.

Data from this study by Aboshiha et al. demonstrated that for the majority of people with achromatopsia (a rare, inherited genetic disease of the eye) vision and the structure of the retina (the light-sensitive layer at the back of the eye) doesn’t worsen over time, and in the small number of people where it does, these changes in vision are slow and unrelated to a person’s age or to the genetic cause of their condition.

Published in the journal of Investigative Ophthalmology and Visual Science, this UK and US collaboration is the largest and longest follow up of patients with achromatopsia published to date with 38 people (20 men and 18 women, aged between 6 and 52) with genetically confirmed achromatopsia assessed for progression over an average of approximately two years.

Until fairly recently achromatopsia was described as being stationary i.e. that it did not change over time. However, a number of recently published studies using new retinal imaging techniques have suggested a possible worsening of achromatopsia as people age. Nearly all previous studies have been small cross-sectional studies (i.e. a range of different people were monitored and data collected at a set point in time) where as this study is longitudinal (i.e. we have monitored a range of different people but collected data over a period of time), which has helped to clarify the role of progression in achromatopsia.

Prof Michel Michaelides, Professor of Ophthalmology at the UCL Institute of Ophthalmology and Consultant Ophthalmologist at Moorfields, lead the study –

“In conditions where there is progressive worsening as people get older we often need to treat as early as possible to see a benefit. Currently there are no treatments for achromatopsia but due to promising results reported for gene therapy studies in animals, there are plans for human clinical trials in the near future. The data from this study indicates that because progression of achromatopsia is indeed quite minimal more people may be able to benefit from treatments in the future then we previously thought.”

Achromatopsia causes the dysfunction of the light sensitive cone cells in the eye in approximately 1 in 30,000 people and is characterised by involuntary and repetitive movement of the eyes (nystagmus), poor clarity of vision (visual acuity) and sensitivity to light (photophobia). People with achromatopsia have mutations in one of five genes important for vision: CNGA3 and CNGB3, which account for 70% of all cases, as well as GNAT2, PDE6C and PED6H.

In 2013 the UCL Institute of Ophthalmology received a £2.1 million grant from the Medical Research Council to conduct an early phase I/II gene therapy clinical trial over the next five years in people with achromatopsia caused by defects in the CNGB3 gene. The clinical trial will assess if adding normal CNGB3 into the cells of the eye is safe and has any potential benefit for vision.

2 Lazy 2 Run? We’re Biking it for Blood Cancer!

By Andi M Skilton, on 29 August 2014


2 Lazy 2 Run Cycling Club

2 Lazy 2 Run CC (left to right): Paul Waldron, Peter Gardner, Sander Smith, Katlyn Green, Manjit Mehat, Matteo Rizzi and Sophia-Martha kleine Holthaus

On Sunday 31 August a group of not so elite athletes from the Gene and Cell Therapy group will be taking part in the London Bikeathon 2014 to raise funds for Leukaemia & Lymphoma Research.

The 2 Lazy 2 Run CC will be cycling 52 miles – that’s more than a marathon, no mean feet given that many of them haven’t cycled for some time. No wonder they’re not running!

The money raised will go towards supporting Leukaemia & Lymphoma Research who are the UK’s leading charity dedicated to improving the lives of patients with all types of blood cancer including leukaemia, lymphoma and myeloma.

Leukaemia & Lymphoma Research first started research into blood cancers in 1960 and your support means they can continue their ground-breaking research, which benefits patients today – and in the future.

If you would like to support 2 Lazy 2 Run CC then please visit their fundraising page below and donate as little or as much as you wish:

You can also find out more about Leukaemia & Lymphoma Research on their website:

The Art of Eyes

By Andi M Skilton, on 7 August 2014

Embryonic stem cell-derived photoreceptors

The eye is an object of great beauty as shown by the Ophthalmologist in their July/August 2014 issue. This month’s issue features a photo essay called The Art of the Eyes and includes examples of the work from a number research labs capturing the complex and beautiful detail of the eye and its cells. The essay includes images of embryonic stem-cell-derived photoreceptors produced by our own Dr Colin Chu and Dr Anai Gonzales-Cordero, who’s work graces the cover (pictured).

In memoriam

By Andi M Skilton, on 5 August 2014


Dr Yoshiki Sasai (1962 – 2014)

It is with great sadness today that we remember and pay tribute to our collaborator Dr Yoshiki Sasai.
Yoshiki was a world leading stem cell researcher and Deputy Director of the Riken Center for Developmental Biology in Kobe, Japan.
Through his hard work and dedication over many years, Yoshiki made an enormous contribuution to the field of regenerative medicine, which remain as a lasting testament to an accomplished scientist. 
We will remember Yoshiki fondly and with respect and our thoughts are with his family, friends and colleagues during this difficult time.

International Clinical Trials Day: Our Work in Summary

By Andi M Skilton, on 20 May 2014



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.