My name is Martin Hills and I have Retinitis Pigmentosa (RP) and am registered as severely sight impaired. I live in England and I am a member of ProQR’s Global Patient and Caregiver Steering Committee. I also run the Retina UK Charity’s Email Helpline where a team of volunteers (who all have some form of inherited retinal dystrophy) respond to enquiries from the UK and around the world. I have been genetically tested but the faulty gene causing my RP has yet to be identified. I am participating in several retinal dystrophy research projects sponsored by Retina UK and others. Here are my thoughts on the importance of clinical research and genetic testing…
Blog by Martin Hills Why consider participating in clinical research for retinal disease?
Martin Hills is an active volunteer for Retina UK who lives with retinitis pigmentosa. As a member of ProQR’s Global Patient and Caregiver Steering Committee we asked him his perspective on clinical research and genetic testing.
Clinical research is the foundation for making progress with drug development
Why is clinical research important in drug development?
Before new treatments can be used in clinical practice they must be carefully tested for their effects on patients. Clinical research is the foundation for making progress with drug development in the quest to inhibit and possibly reverse sight loss in inherited retinal dystrophies.
Trials use volunteers to assess whether treatments are more effective than existing procedures (if there are any), what the side effects are and whether they are safe. But, all research starts in the laboratory with involved genetic investigations to establish how disease processes might be influenced to slow or stop their progression. Promising approaches may then proceed to tests in cell and animal models; if they demonstrate clear potential and safety, researchers can then move on to clinical trials in human volunteers under strict guidelines.
Results from successful clinical trials are essential for any new treatment to be made generally available. The trials must demonstrate that the treatment does not have unacceptable side effects, and that it is clearly of benefit to those living with the disease.
ProQR’s aim to always put patients first is a sentiment I fully support
How can patients contribute with their participation?
Many research studies could not take place without the participation of people living with inherited sight loss. Whether it be a simple blood test to provide a DNA sample through to the significant commitment of taking part in a clinical trial, these contributions all help researchers make progress towards treatments.
ProQR’s aim to always put patients first is a sentiment I fully support and I hope that I and other members of the Steering Committee can make a powerful and meaningful contribution to ensuring that participation in all the vital stages of drug development is a fulfilling and successful experience for both potential and involved patients. Particular areas of importance include the way and type of language that researchers adopt to communicate with the patient community in order to develop clear straightforward understanding and trust. I also feel that an effective communication channel is necessary to help ensure that researchers and clinicians can understand the views and feelings of potential trial participants.
Why you can’t do without a genetic diagnosis
It is so important to know the exact fault carried in the genes as it can assist in prediction of how vision may change in the future, and also help to determine the likelihood of other family members developing the condition.
Also, many of the treatments currently being developed are specific to certain genetic faults, so knowing your genetic diagnosis will potentially open up choices about clinical trial participation or treatment options. Genetic testing is a vital opportunity to help identify the gene that is causing sight loss in a person with inherited retinal dystrophy. A significant number of future treatments for retinal conditions may be specific to certain genes, and participation in those clinical trials will only be available to patients having that particular faulty gene.
It is exciting to hear that many new genes associated with sight loss have been discovered in recent years and with increased understanding and practices more and more faulty genes are being identified. The rate of progress in this area of research is phenomenal and it may be possible that a person’s defective gene can be identified now or in in the near future, even if this wasn’t able to be done on original diagnosis.
Martin Hills is a Retina UK (RPFB) Email Helpline Team member from 2014 and Administrator since 2017. Retired Chartered Civil Engineer (working in the UK and abroad). He was officially diagnosed with RP in 2001 (aged 49) and stopped driving. He was certified as Partially Sighted in 2002 and as Severely Sight Impaired in 2017. His eyesight is slowly deteriorating with reasonable central vision left. Symbol Cane user. Martin 's father and various other family members have been diagnosed with RP. Both his children are clear. One cousin, both his sons and Martin are all on the 100,000 Genome Project. Martin also participates in the UK Inherited Retinal Dystrophy Consortium RP Genome Project sponsored by Retina UK (RPFB).
Where to find these clinical trials? And what to do if you find one that might be suitable for you?
All credible clinical studies will be registered on publicly accessible online databases. We regularly receive enquiries about this topic on our Retina UK Charity Helpline from people both in the UK and also many other countries around the world. We respond by highlighting that the registry for studies being conducted in the UK is called the NIHR UK Clinical Trials Gateway. There are other public registries or lists of trials that may include UK centres and for Europe it is the EU Clinical Trials Register and for the USA we signpost to the National Institutes of Health (NIH) Clinical Trial Registry. These registries aren’t particularly easy to navigate for non-medical people with sight loss – there is work to be done here.
In the UK, there are no official ways to register interest in taking part in trials or other types of research study, although some research centres may have their own databases. Consultation with an ophthalmologist is suggested and a referral is needed. Suggested topics to discuss and understand include:
- Whether you have the form of the condition being studied
- What the purpose of the study is (i.e. not all trials are testing new treatments)
- Whether you meet the enrolment criteria
- Whether you can make the time commitment to take part
A credible clinical trial will never ask you to pay to take part.
The future is looking so much brighter for retinal dystrophy sight loss sufferers
Empower yourself to ask about research
The relationship between a patient and their medical professional is such a vital part of the coping process from sight loss diagnosis through to acceptance of implications and developing strategies to deal with day to day life. The core to this relationship is trust, clarity and honesty.
The phrase “knowledge is power” has been used in many ways over the years, but being armed with information can be especially helpful for a person who is suffering from sight loss and is considering participation in possible research opportunities and what the future may bring.
For many older people who were diagnosed with inherited retinal dystrophy years ago, the message was that “there is nothing that can be done”. The huge advances made in genetic research and testing through to clinical trials and emerging treatments in recent years is reversing this negative message and the future is looking so much brighter for retinal dystrophy sight loss sufferers.