Since 1997, the Childhood Eye Cancer Trust has funded more than 20 research projects, totalling almost £700k. Find out more about CHECT research…

Since the early 1990s, the Childhood Eye Cancer Trust (CHECT) has been funding research into the causes of retinoblastoma, finding new treatments and exploring the impact of living with the condition.

We believe that research is a vital part of the fight against Rb: helping us to understand the genetic changes that cause the cancer to develop; to investigate new, more targeted treatments with fewer side effects, and ultimately to reduce the negative impact on those affected.

Research also allows us to identify where help is needed so that CHECT can tailor the support we offer accordingly.

What has CHECT research achieved so far?

In 1997 CHECT funded a project that led to increased knowledge about the retinoblastoma gene and the mutations which can cause Rb, creating the possibility of genetic screening for families affected by retinoblastoma.

Now genetic screening is readily available and provides vital information to affected families and their medical teams. The impact of this cannot be underestimated.

I was diagnosed with bilateral retinoblastoma when I was fifteen months old. In addition to having one eye removed, I also underwent radiotherapy on the other eye. Whilst the treatment saved my life, it had a major impact on my vision, to the point at which I became completely blind in my twenties.

In 2011 I underwent genetic testing, which revealed that I carried the heritable form of Rb. Due to this knowledge, when my son was born in 2017 he underwent genetic testing at two weeks old. Rather than wait for the results, at five weeks old he was then diagnosed under anaesthetic examination and treated straight away with laser treatment. He is a very happy and healthy two year old, and has perfect vision. The difference genetic testing has made within a generation is incredible.

Darren Harris, CHECT Patron and dad to Devante

A more recent study developed these genetic findings further, using ‘Next Generation’ DNA sequencing technologies which can identify mutations at much lower levels in the blood than was previously possible.

This increases screening sensitivity, enabling even more children to be eliminated from costly and sometimes distressing screening processes.

Thanks to the support of CHECT, we can now identify mutations at much lower levels in the blood than was previously possible. We estimate that we can now identify mosaic mutations in approximately 10% of patients that would have previously tested negative, which means that we can provide accurate risk estimation to more family members than ever before. This, in turn, will enable us to exclude more siblings, previously deemed to be at risk, from costly and distressing surveillance.

Dr Simon Ramsden and Dr Trevor Cole

Alongside this, database and epidemiological studies have provided us with more accurate information about the risk for second cancers linked to the heritable form of Rb, making individuals and healthcare professionals more aware of the need for vigilance in this area.

CHECT has funded a range of research investigating the mechanics of the condition. Taking place at leading centres around the world, including Houston and Missouri in the USA and Melbourne in Australia, they aim to determine which genes play a role in the development of retinoblastoma; what makes the disease invasive (a precursor to being metastatic or spreading to new parts of the body); and whether we can target specific cells to slow down or even stop the development of tumours?

It is hoped the answers to these questions will help to open up new targeted options for treatment, with fewer side effects, and reduce the number of children currently requiring enucleation. 

We have also supported psychosocial studies which tell us more about the issues of most concern to parents of a child with retinoblastoma, and how they want to learn about these issues. This research has informed CHECT policy on support programmes, ensuring the issues that matter most to members remain central to our work.

What projects are currently underway?

CHECT continues to fund first class research with the potential to make a real difference to those affected by Rb.

Our most recently funded two projects are again using the latest technology to further our understanding of the mechanics of Rb, as well as investigating the possibility of developing more targeted treatment, with fewer short and longer term side effects.

CHECT retains its commitment to learning more about second primary cancers, through two current studies. The first of these is investigating the risks posed by the different genetic mutations associated with heritable Rb and by the treatment received.

Records will be analysed to calculate the statistical estimate of the risks of tumours occurring later in life. CHECT hopes this will lead to better information being available which could potentially lead to earlier diagnosis and treatment of these second cancers.

The second is a ground-breaking project to create a single national Rb registry, which will be an essential resource in understanding the effectiveness of treatment plans in the UK, together with the risks of disease progression and second cancers in later life. The first rare disease registry of its kind in the UK, this project will lead the way for the establishment of similar registries for other rare diseases across the NHS.

It also remains important to CHECT that we understand more about the impact of living with retinoblastoma. We are looking forward to the results of research exploring the difficulties experienced by children and parents of living with an artificial eye, as well as their coping strategies.

It is hoped this project will help to develop clear best practice guidelines regarding clinical management of these children, and to promote innovation in the development of clinical resources to support adaptation to living with an artificial eye.

Member involvement

The lived experience of individuals affected by retinoblastoma is at the heart of our research strategy. Our Scientific Advisory Committee includes a number of members with personal experience of Rb.

At our 30th Anniversary Members’ Weekend in 2017 we held a session to get input on areas of psychosocial research members felt were a priority for them, and in 2018 we surveyed members to get feedback on the current and future CHECT research strategy.

How do we fund CHECT research?

We do not receive any government funding, and the majority of our funding is through donations. Thank you to all our supporters for their tireless work raising funds for CHECT, and to organisations such as Fight for Sight and the Greendale Foundation, without which none of this research would be possible.

The Childhood Eye Cancer Trust is a member of the the Association of Medical Research Charities (AMRC), the national membership organisation of leading medical and health research charities.

Members are audited regularly to ensure their processes are of the highest quality so membership is a ‘kitemark’ of excellence. CHECT is also a non-commercial partner organisation of the National Institute for Health Research (NIHR) which is the “research arm” of the NHS. We fund UK and international groups carrying out world-class research into retinoblastoma.

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