Download Inherited Retinal Diseases research at Moorfields

Recruiting Research Studies
Inherited Retinal Diseases research at Moorfields
Moorfields Eye Hospital wants to improve access to clinical research studies for all patients within the NHS and provide the
opportunities for patients to participate in research.
This is a list of research studies that are currently open and recruiting patients at Moorfields Eye Hospital. This includes
information about the study, the lead consultant on the study, and the currently anticipated date that patient recruitment will
end. If no end date is stated, then the study has no set end date and will continue to recruit patients for the foreseeable
future.
If you are interested in any of the listed studies, we advise that you approach your Moorfields consultant for more
information. If you are not a Moorfields patient, you will need to be referred to Moorfields Eye Hospital by your NHS GP to be
able to participate in any of these studies. For further information, please e-mail [email protected]
If a member of our staff thinks you might meet the specific criteria for a study, they will discuss it with you in detail. You might
be approached during your visit to the hospital, or receive a letter or phone call after your visit. You will be given time to
consider whether you would like to take part and what the implications will be for you. All clinical research projects are strictly
monitored by our research department and regulated by national bodies. You will need to give explicit written consent if you
decide you would like to take part.
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BAIJ1012
Gene therapy trial for LCA
An open-label, multi-centre, Phase I/II dose escaltion trial of an adeno-associated virus vector (AAV2/5-OPTIRPE65) for gene therapy of adults and children
with retinal dystrophy associated with defects in RPE65 (LCA2)
Consultant: Prof James Bainbridge
Recruitment End Date: 01/04/2018
BAIJ1014
An open label, multi-centre, Phase I/II dose escalation trial of a recombinant adeno-associated virus vector (rAAV2/8hCARp.hCNGB3) for gene therapy of adults and children with achromatopsia owing to defects in CNGB3
Achromatopsia is a recessively inherited condition characterised by a lack of cone photoreceptor function resulting in impairment of colour vision and visual
acuity, central scotoma often with eccentric fixation, disabling hypersensivity to light(photophobia) and involuntary eye movements (pendular nystagmus).
Children with CNGB3-related achromatopsia have profound sight impairment from birth or early infancy. The condition is currently untreatable, but there is a
real possibility that a gene therapy could offer a significant benefit in terms of improved sight and quality of life (QOL), based on our own and others
experience of ocular gene therapy trials (Maguire, et al 2008; Cideciyan, AV et al 2008 and 2013; Bainbridge, et al 2015) and pre-clinical data demonstrating
improved outcome in CNGB3- related achromatopsia. Possible benefits of improved cone-photoreceptor function include improved visual acuity; improved
colour perception; and relief from disabling photophobia. Although younger individuals may benefit most from gene supplementation therapy by virtue of their
greater visual plasticity, we anticipate that the intervention may offer benefit across a range of ages and we aim to define this range. For this reason,
participants of various ages will be included; children will be included only after an acceptable safety profile has been established in adults.
Consultant: Prof James Bainbridge
Recruitment End Date: 20/08/2018
MICM1002
An Exploratory Clinical and Molecular Genetic Study of Stationary and Progressive Disorders of Cone Function
This research study aims to investigate these conditions in detail to help improve our understanding of the causes of visual impairment in these conditions; to
investigate to what degree change occurs over time and to identify the genetic causes of these disorders. This information will assist in the provision of better
information for patients and may also be helpful in the event of future anticipated treatment trials. The research aims to improve our understanding of these
disorders in order to provide better information to patients and also to shed light on the causes of visual loss in these conditions. We want to establish the
genetic cause of these disorders.
Consultant: Prof Michel Michaelides
Inherited Retinal Diseases Research at Moorfields
Recruitment End Date: 18/06/2019
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MICM1003
Phenotyping Patients with Leber Congenital Amaurosis Associated with Mutations in AIPL1 in Preparation for Gene Therapy Trials
This research study aims to provide detailed information about retinal function and how this changes over time in patients with AIPL1 gene defects. We hope
that this will lead to a better understanding of the condition and assist in providing improved information to patients and also assist in developing future
treatment strategies. We want to improve our understanding of the retinal function and structure, and how this changes over time, in patients with AIPL1 gene
defects and to be able to provide improved information to patients and also assist in developing future treatment strategies
Consultant: Prof Michel Michaelides
Recruitment End Date: 19/01/2017
MICM1004
A Study of Conditions Affecting the Retina
The retina is the light sensitive layer at the back of the eye. The eye has many similarities to a camera. The retina is similar to the film in a camera. There are
many problems affecting the retina that mainly affect the light sensitive cells called rods and cones, especially in the early stages. Rod cells are mainly used
for night-time vision and cone cells are mainly used for day-time vision and reading. We are trying to learn more about the causes of these conditions and
look at how well the rod and cone cells work and whether this changes in different people as they get older.
Consultant: Prof Michel Michaelides
Recruitment End Date: 30/05/2019
MICM1006
Magnetic Resonance Imaging Studies for Children with Achromatopsia
The study is being carried out to investigate the relationship between visual cortex structure and function using structural and functional MRI, correlate
phenotypic findings with genotype and explore the use of determining efficacy of planned gene replacement therapy using structural and functional MRI and
probe the potential role that variable cerebral plasticity may have on limiting treatment effects. The preliminary investigations will aim to determine whether
the previously reported cerebral reorganisation that can occur in achromatopsia is age- or genotype- dependent.
Consultant: Prof Michel Michaelides
Inherited Retinal Diseases Research at Moorfields
Recruitment End Date: 31/03/2019
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MICM1011
Advanced Ocular Imaging Program Bank
Researchers at the Medical College of Wisconsin, in collaboration with others, have created a bank called “The Advanced Ocular Imaging Program Bank"
that seeks to collect ocular images, eye-related health information, and genetic results from a large number of people with different eye conditions. This
information will then be banked so that in the future, other doctors and scientists at medical and research centres around the world may use it to learn about
many different diseases and conditions. Their goal is to improve health and develop new treatments.
Consultant: Prof Michel Michaelides
Recruitment End Date: 01/12/2018
MICM1013
The Natural History of the Progression of Atrophy Secondary to Stargardt's Disease type 4 (STGD4): A Prospective Longitudinal
Observational Study of Stargardt’s Disease
This research is being done to understand the natural course of Stargardt’s disease type 4 (also called Stargardt’s Macular Dystrophy, STGD4). So far, there
are no treatments for this condition, but several treatment approaches are being developed and may become available through clinical trials in the coming
years.
To measure the effectiveness of such treatment, it is first necessary to get to know how this condition changes over time. At present this remains largely
unknown. To investigate this, detailed images of the seeing part of the eye and visual function tests such as measuring distance vision and the central visual
field will be used. All of these tests are part of standard clinical care in current ophthalmic practice.
Consultant: Prof Michel Michaelides
Recruitment End Date: 01/11/2017
MICM1017
RPE65 Natural History Study
Natural History of patients with Leber Congenital Amaurosis associated with mutations in RPE65
Consultant: Prof Michel Michaelides
Inherited Retinal Diseases Research at Moorfields
Recruitment End Date: 01/02/2021
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MOOM1003
Priorities and Preferences for Whole Genome Sequencing
Whole genome sequencing is set to become the ‘gold standard’ in diagnostic genetic testing and is already being used in certain circumstances. The arrival
the 100,000 Genomes Project is set to increase the number of patients referred for whole genome sequencing dramatically. The primary goal of this study is
to evaluate whether patients who are being offered Whole genome sequencing are making an informed decision to accept or decline testing
Consultant: Mariya Moosajee
Recruitment End Date: 30/09/2017
MOOA1017
Assessment of the impact of different eye diseases on sleep, sleep/wake timing and circadian entrainment with genotyping
Our sleep/wake cycles are controlled by a receptor situated at the back of the eye. These receptors are sensitive to blue light and are known as the
photosensitive retinal ganglion cells (pRGC). Depending on whether it is day or night, different amounts of light pass into the eye. As light enters the eye, this
receptor detects how much blue light is present, and sends a signal to a certain part of the brain. This part of the brain controls the sleep/wake cycle that
ensures a person sleeps at night and is awake during the day.
The light input can be upset for a number of reasons. For example, certain eye conditions like glaucoma, inherited retinal degenerations or macular
degeneration may cause reduced light perception due to the changes at the back of the eye where the pRGC system is situated. This in turn may have an
impact on sleep/wake cycle. Indeed a significant proportion of patients with progressive degenerative eye disease such as inherited retinal degeneration,
glaucoma or with other visual impairment have been shown to suffer from sleep disturbances. A common condition where the lens gets cloudy and stops as
much light entering the eye is cataract. As well as affecting the vision, cataract also reduces the amount of the blue light transmission reaching the back of
the eye and thereby may affect sleep. Removal of cataract has shown to improve the sleep patterns in some patients in the preliminary results of one of our
ongoing study. By assessing the impact of different eye conditions on sleep patterns and sleep/wake cycle we plan to develop an informed approach in the
overall management of the various eye problems.
Consultant: Mr Andrew Webster
Inherited Retinal Diseases Research at Moorfields
Recruitment End Date: 31/12/2016
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MOOA1019
MRI tractography study
The aim of this project is fourfold:
(1) To investigate the anatomy of the visual system in healthy children and to determine the volume of the visual pathways and measures of the structural
integrity within the pathway.
(2) To determine quantitative measures of the structural integrity of the visual pathways in children with abnormalities of the visual system.
(3) To compare and correlate functional measures, namely electrophysiology and functional imaging of normal and abnormal visual pathway conduction with
tractography.
(4) To appraise and develop tractography as a complementary tool to existing investigative procedures in children with visual system abnormalities and to
determine its future clinical role in visual system investigations.
Consultant: Mr Robert Henderson
Recruitment End Date: 31/12/2016
WEBA1014
REGENERATE (REP1 Gene Replacement Therapy)
An open label Phase 2 clinical trial of retinal gene therapy for choroideremia using an adeno-associated viral vector (AAV2) encoding Rab-escort protein 1
(REP1)
Consultant: Mr Andrew Webste
Recruitment End Date: 01/12/2017
WEBA1015
Natural History of the Progression of Choroideremia Study (NIGHT)
The main purpose of this study is to assess/measure how choroideremia develops over a period of 12 months. This information will be used to understand
how quickly choroideremia progresses and help advance understanding of the ways that disease progress can be measured.
Consultant: Mr Andrew Webste
Inherited Retinal Diseases Research at Moorfields
Recruitment End Date: 31/08/2016
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WEBA1018
RP Genome Project
This is a genetic study involving collection of samples of blood, saliva or tissue for DNA extraction and Next Generation Sequencing (NGS) of exome or
whole genome. DNA samples will be retained for future use, and induced pluripotent stem cells may be created (both with prior consent). Incidental findings
unrelated to Inherited Retinal Dystrophy (IRD) that are of clinical significance will be validated and reported to participants clinical care teams
Consultant: Prof Andrew Webster
Recruitment End Date: 31/10/2017
YUWP1001
Genotype and Phenotype in Inherited Neurodegenerative Disease
Changes in research are allowing scientists to design new therapeutic options for many genetic diseases. Current and future research might help us to
understand genetic diseases even better and therefore improve the ability to develop treatments for people suffering from rare diseases.
Consultant: Mr Patrick Yu Wai Man
Inherited Retinal Diseases Research at Moorfields
Recruitment End Date: 30/09/2018
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YUWP1006
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare
Diabetes Syndromes
Wolfram, Alström and Bardet Biedl (BBS) (WABB) syndromes are rare genetic diseases with clinical overlap, chronically debilitating, and highly complex.
Patients are distributed throughout the EU. The diseases progress to death in early adulthood. EUROWABB is an international registry of children and adults
WABB and other rarer diabetes syndromes, containing anonymised clinical data on history and examination, complications, laboratory investigations,
imaging; and molecular genetic data; and information on human tissue held locally. The purpose of the webbased registry is: a) to establish the natural
history of these diseases (their characteristics, management and outcomes); b) to assess clinical effectiveness of management and quality of care; c) to
provide a register of patients for recruitment to intervention studies; d) to establish genotypephenotype correlations. Data held in the registry will be
anonymised (there will be no personal identifiable data held); but linked by a unique identifier to the health professional who submitted the data. The local
health professional can submit data records on his/her patients, and controls access to data records for patients under their care. Patients will be able to
submit some of their own personal data if they want. The detailed clinical characterisation will allow future enrolment into multinational clinical trials (with
separate consent). The registry will support wider access to genetic testing, information for affected families and health professionals; and encourage
international collaborations for patient benefit. Research partners can register and apply to the EUROWABB scientific committee with research proposals to
access the registry data. Proposals will need to have the relevant national ethics approvals. If direct access to patients to participate in research studies is
required, this will only be through their local health professionals. Additionally, the Wolfram SubStudy of EuroWABB to collect longitudinal natural history data
from a selection of Wolfram Syndrome participants that are already participating in the EuroWABB registry.
Consultant: Mr Patrick Yu Wai Man
Recruitment End Date: 31/03/2018
YUWP1007
External natural history controlled, open-label intervention study to assess the efficacy and safety of long-term treatment with
Raxone® in Leber’s hereditary optic neuropathy (LHON) - LEROS
This is a Phase 4 clinical research study, called LEROS. The LEROS study is aiming to find out more about the effectiveness and safety of the study drug
(Raxone) in the long-term treatment of Leber’s hereditary optic neuropathy (LHON). The study drug has already been approved in the European Union for
the treatment of LHON. Approximately 250 patients at 25 study centres across several European countries will take part in this study.
Consultant: Mr Patrick Yu Wai Man
Inherited Retinal Diseases Research at Moorfields
Recruitment End Date: TBC
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