Retina 2015 — The Biggest and Most Successful Retina Conference to Date
Retina 2015 took place in Dublin from Thursday, November 5 to Saturday,
November 7. The Retina Conference has grown in strength and reputation over the
years. What began in 2000 as a one day scientific meeting aimed at Irish
researchers is now a three day internationally renowned conference. The
engagement of a wide stakeholder group in discussions around clinical trial
development is a key objective for us and was further explored during this year’s
event. You can read a report from each day of the conference by following the links
below.
Thank you to all the Retina 2015 speakers, panellists, sponsors, delegates,
volunteers, and everyone who supported the event. If you have any questions about
any of the information provided here or any feedback about the conference please
get in touch on 01 6789 004 or research@fightingblindness.ie.
Save the Date! Retina 2016 will take place on Friday, November 11 and Saturday,
November 12, 2016.
Clinical Trials Roundtable Meeting
On Thursday, November 5, Fighting Blindness brought together the pharmaceutical
and biotechnology industries, scientists, medical professionals, policy makers and
people affected by vision loss. Embedding the patient voice at the heart of
conversation, we discussed some of the current challenges facing the future of
clinical trial development.
Irish and international patient experts clearly explained the gap that exists between
the aims of doctors and scientists and what patients are willing to accept as a good
outcome from a potential therapy. While doctors and scientists are rightly focused on
how to efficiently measure and standardise visual function testing by methods such
as the eye chart and visual field testing, individuals living with a condition are more
concerned with increasing their functional vision. This means using their vision in
everyday tasks in real life such as getting around independently or increasing their
reading speed or ability.
There are however a number of approaches underway that are beginning to break
down some of the barriers between the aims of the patient and the professional.
Earlier this year saw the publication of clinical trial data for a gene therapy designed
for a rare form of childhood blindness called LCA (Leber congenital amaurosis). For
the first time, central to the design of a clinical trial for blindness was the inclusion of
a mobility course as part of the trial testing. This mobility course has been validated
by the drug regulators in the US – the Food and Drug Administration (FDA) – as an
acceptable measurement. This demonstrates how the needs of the people affected
can be included and clinical trials can evolve by meaningful patient engagement.
Another key point raised during the meeting was the need for more data about how
diseases of the retina progress over time. Both the patients and ophthalmologists
present explained how vital this information would be for them, while the
pharmaceutical industry discussed the central importance of this information for the
design of future therapies. These types of studies are known as Natural History
Studies (NHS) and we will work with the international community to make these
types of studies a priority.
Scientific Programme
The scientific day of Retina 2015 focused on some of the outstanding international
research into diseases affecting the retina, with a particular emphasis on research
that is beginning to move towards clinical trial development.
The conference was officially opened by Minister Aodhán Ó Ríordáin, Department of
Justice and Equality, who stressed the importance of listening to patients and
making services “a genuine partnership”. Dr Graham Love, CEO of the Health
Research Board (HRB), discussed the importance and role of public and patient
involvement in health research, and the HRB’s effort to develop and promote their
participation. Patient involvement in the research projects it funds is a new focus for
the HRB. Specific criteria are being developed for new research applications to
incorporate patient involvement at each step of the proposed research, from study
design, to participation and to evaluation.
The research presentations began with a remarkable talk from a great friend of
Fighting Blindness and inventor of the sub retinal implant, also known as the “bionic
eye” Professor Eberhart Zrenner. Prof Zrenner, from the Tubingen Eye Hospital
Germany, spoke about his work on transcorneal electric stimulation (TES) for
individuals with retinitis pigmentosa (RP). This idea came from basic research with
retinal implants in recent years which indicated, among other things, that electrical
stimulation of the retina liberates growth factors which may be able to delay retinal
degeneration. Outlining the latest human studies, including his own, Prof Zrenner
summarised that TES has been found to be safe, with encouraging results. Adverse
events to date mainly included dry eye, which he said has always been treatable by
artificial tears. A major new study involving 180 patients is now in development.
We also heard from Prof Rocio Herrero-Vanrell, Complutense University of Madrid,
Spain. One of her main research areas is how to target drugs to the retina, which is
located at the back of the eye. She has special expertise in microencapsulation of
drugs for the treatment of these diseases. She discussed her work on biodegradable
microspheres (MSs) for the eye, outlining how it may offer an excellent alternative to
multiple injections. This method is able to deliver the active substance, for example
an age-related macular degeneration (AMD) drug, in a controlled fashion for
extended periods of time. It then disappears from the site of injection after delivering
the drug. This would negate the need in the future for monthly injections for
conditions like AMD and diabetic eye disease.
Meanwhile, Dr Shannon Boye, University Of Florida, summarised efforts to develop
gene therapies for photoreceptor-mediated, inherited retinal disease. She reported
how her team has demonstrated the ability to restore visually-guided behaviour and
preserve retinal structure in several animal models of Leber congenital amaurosis
type 1 caused by mutations in the GUCY2D gene (LCA1). Dr Boye told delegates
that they are now working with a pharmaceutical company to bring this treatment to
the clinic.
Dr Joseph Carroll of the Medical University of Wisconsin explained in his
presentation why some of the current widely used methods to image the retina are
not sensitive enough to detect early retinal disease and the small degenerative
changes that occur. His work is focused on applying advanced imaging techniques
to capture the retina with a precision amount of detail. One of the major applications
for this type of imaging is now becoming apparent, which is categorising individuals
and tailoring the right therapy to the right patient. Dr Carroll believes that natural
history studies are fundamentally important for the development of new therapies.
These types of studies follow individuals over time and monitor in detail the
progression of disease in order to understand them better. He called on all centres to
share data on imaging and disease progression and work together to develop more
of these studies on every retinal degenerative disease.
Fighting Blindness funded researcher, Dr Breandán Kennedy, University College
Dublin (UCD), is investigating new drug pathways that may have a function in
slowing down retinal degeneration. He has recently focused efforts on a group of
drugs called Histone Deacetylase inhibitors (HDACi). His research has shown that
HDACi are effective in restoring visual function and rescuing morphological defects
in a zebrafish model of retinal degeneration. These drugs have been controversial in
their application for retinal degenerative disease as some of them are known to be
toxic. By testing treated and untreated fish by a protein screen, Dr Kennedy has
identified the neuroprotective pathway by which these drugs function and will further
explore this pathway in order to identify novel drug targets.
The emerging area of research known as optogenetics had a strong focus at this
year’s event, with three speakers outlining their different approaches for this exciting
area of research. Put simply, optogenetic tools are focused on making cells sensitive
to light. This has the potential to revolutionise treatment and restore vision to
individuals at end stage retinal degeneration, there is huge interest and research
ongoing in the area. Optogenetics is also a mutation independent approach,
meaning it has the potential for wider application than current forms of gene therapy
that are specific for a particular gene.
Dr Volker Busskamp from the Center for Regenerative Therapies in Dresden
(CRTD), Germany explained his approach which is enabling engineered viruses to
deliver a photosensitive protein derived from algae, called chanelrhodopsin, into
target cells.
Dr Deniz Dalkara, Insituit de la Vision, Paris is extremely focused on the translation
aspect of optogenetics – how do we move research from the mouse models of
disease to human application. Dr Dalkara has identified the ganglion cells, which are
cells in the inner part of the retina, as the universal target for optogenetics as they
are usually preserved in individuals with retinitis pigmentosa (RP), when the
photoreceptor cells have already undergone cell death. She is now optimising her
tools for clinical use in the future.
Dr Jasmina Cehajic-Kapetanovic from the Royal Eye Hospital, Manchester explained
her approach which is delivering the human rod opsin protein to target cells in
advanced degenerative disease. She believes that her approach may be more
readily translatable to human clinical trials as the protein being delivered is of human
origin.
All of the speakers were in agreement about the accompaniment of a goggle device
with optogenetics in the future. Because cells expressing optogenetic protein are
less light sensitive than normal photoreceptors, vision under regular daylight
conditions is unlikely to be possible. Special goggles, which mimic the normal retinal
activity of capturing vision information, will then amplify the light signal at the
appropriate wavelength to enable vision restoration.
Dr Eric Pierce, Director of the Ocular Genomics Institute in Harvard Medical School
gave a fascinating talk about his work as a dual clinician and scientist. He explained
his Institute’s patient-centred approach, which starts and ends with the affected
individual. Each person with an inherited retinal disease wants to find out the genetic
cause of their disease and he believes this will help clinicians give a more precise
prognosis for patients as well as inform the design of new therapies. Dr Pierce told a
story about a six-year-old girl who presented at his clinic with an early onset and
severe form of retinal disease.
They began to investigate the cause of disease and screened all of the 238 genes
that are currently known to cause various sight loss conditions. However, as is the
case with approximately 40% of individuals, they weren’t initially able to find the
disease-causing gene. Not to be disheartened the team embarked on a long process
of whole genome sequencing with the ultimate discovery of a disease causing
mutation in a part of a gene that had been previously overlooked. This was because
the mutation was just before the start of a spelling sequence for the gene NMNAT1,
but it turned out that this spelling error or mutation was located in a part of the gene
vital to its function.
“It’s a long term project taking on a family, it requires a concentrated team effort to
find the cause of disease, potentially over many years” explained Dr Pierce. His
laboratory have since generated a mouse model of NMNAT1 blindness and are now
focused on designing a viral gene therapy for this disease – a truly remarkable
testament to the patient focus of his research.
It was a pleasure to also welcome our friend Dr Stephen Rose, Chief Scientific
Officer at Foundation Fighting Blindness in the USA. Dr Rose gave an impressive
overview of the research funded by the Foundation and also spoke about the strong
international collaboration they seek to build. Steve’s many years of experience in
working in the area of retina research is such an asset to our organisation, and
during our Public Engagement Day he explained much of this exciting work directly
to our members.
As a patient organisation, it is crucially important to feature individuals who live with
sight loss throughout the day. The day featured an inspiring talk by Áine Mae
O’Mahony, who lost her vision in her mid-twenties; Áine Mae now manages a
community radio station in Loop Head, Co Clare. The conference also heard from
Derry man Jason Smyth, who was diagnosed with Stargardt disease at the age of
eight. Jason holds the title of the fastest Paralympian on the planet, having won
double gold at in the 100m and 200m at both the Beijing 2008 and London 2012
Paralympic Games. He holds the world record for both evens and is currently
training for the 2016 Paralympic Games in Rio de Janeiro.
Public Engagement Day
This year’s Public Engagement Day was our biggest to date with almost 250 people
attending. The programme was organised into sessions based on the three core
pillars of our strategy: Cure. Support. Empower.
Dr Shannon Boye – Gene therapy and Directions for Taxi Drivers
Dr Shannon Boye of the University of Florida spoke on both days iof the Retina
Conference and gave a great description to attendees about what she aims to
achieve as a gene therapist. “You can think of a vector like a taxi cab, and the
therapeutic DNA as the passenger inside,” Dr Boye explained. “We, as gene
therapists, give a taxi driver directions on where that cab should go and where to
drop the passenger off. Some of the passengers are smaller and require a small cab,
but some passengers like the myosin7A gene affected in Usher syndrome type 1B or
the ABCA4 gene associated with Stargardt disease are very large and will require a
bigger taxi cab, or perhaps even two taxi cabs to shuttle the gene to the right location
for drop off. It is our job to design the right taxi for the right gene”.
Why do therapies take so long to reach patients?
The highlights of the day included a panel discussion, chaired by Fighting Blindness
Research Manager Dr Maria Meehan. The discussion focused on the medicines
research and development process, and the length of time and cost required to get a
therapy to human clinical trial and then to market. The panel was made up of a
doctor, a scientist, industry representative and a person living with sight loss: Dr Paul
Kenna, Royal Victoria Eye and Ear Hospital and Trinity College Dublin; Prof John
Flannery, University of California, Berkeley; Siobhán Gaynor, Genable Techologies
Ltd; and Christina Fasser, President of Retina International. This ensured a broad
discussion encompassing a number of different perspectives
The condition specific breakout sessions were once again one of the most valuable
parts of the day for many people. These sessions provide a unique opportunity to
ask questions of the doctors and scientists present. Discussions in the groups for
rare genetic conditions focused mainly on topics such as genetic testing, access to
clinical trials and new areas of research. The discussion in the group for common
conditions was predominantly about current treatments and patient care.
After lunch, attendees were treated to a performance by our fantastic Visionaries
Choir, who made their public debut at the conference. Fighting Blindness members
Conor Maguire and Cearbhall O’Meadhra then spoke about different types of
accessible technology that can be useful for people with varying levels of sight loss.
This was a very popular session and you can read about their suggestions here.
There was a presentation about the National Vision Coalition (NVC) Manifesto from
Avril Daly, co-chair of the NVC, Mr David Keegan, Mater Misericordiae University
Hospital and Fighting Blindness board member and Gerry Kerr, patient
representative on the NVC. The Coalition is calling on all parties to commit to the
inclusion of a National Vision Strategy in their programme for Government and is
asking the public to support its Manifesto and raise the issue with all candidates in
the run-up to the next General Election. You can read more about the National
Vision coalition Manifesto here.
The Retina 2015 Conference was closed by Christina Fasser, President of Retina
International.
For more information please contact Fighting Blindness on +353 1 6789 004 or
research@fightingblindness.ie or visit www.FightingBlindness.ie.