Reflections on attending the Children’s Tumour Foundation’s (CTF) annual Conference 2020

Dr Carly Jim, Manchester Metropolitan University / Childhood Tumour Trust (CTT)
Vanessa Martin Chair Childhood Tumour Trust (CTT)
Dr Sue Huson Head of the Medical Advisory board Childhood Tumour Trust (CTT)
Dr Georgina Bird-Lieberman Medical Advisor Childhood Tumour Trust (CTT)
Nicholas Johns, Manchester Metropolitan University Psychology Student
Nicola Branch, Manchester Metropolitan University Psychology Student

The Children’s Tumour Foundation’s (CTF) conference is the most important annual event for anyone interested in the field of Neurofibromatosis (NF1). Held in various locations usually around the USA, the conference brings together key players across a vast multi-disciplinary spectrum of clinicians, researchers, patient facing organisations and others all committed to supporting people with NF and their families and with the ultimate goal of managing to #ENDNF.

Both Vanessa and myself had intended to attend this conference, in fact Vanessa had already bought her plane tickets, whilst I was still tying to establish if I could spare the time away from my family. Then Corona arrived on the scene and CTF decided, for the first time, to hold the conference online.

The move to video conferencing was very much welcomed as cancelling the conference would have not only delayed the transfer of knowledge from the emergent research but would also have delayed celebration of some of the key achievements in the field over the last year. Whilst there were no doubt challenges in moving the content online, these challenges remained in the background and as conference delegates we were continually impressed as to how slick the event was run.

Firstly prior to the conference the full schedule was released (which can be viewed here https://web.cvent.com/event/51179df7-fc25-400c-83b7-961eb42f527d/websitePage:645d57e4-75eb-4769-b2c0-f201a0bfc6ce?previewToken=75581127b174914459baddabb2930a83). The release of the schedule meant that we were able to plan our time around our other commitments and to priorities which sessions we attended. Vanessa even managed to listen to some of the presentations in her car.

We were very impressed with the quality of the live captioning, something that is so important for this type of event, but often overlooked. In particular, I liked the fact that the full transcript was available this was very useful if I missed certain parts whilst attending to the children.

The mix of pre-recorded lectures with live questions and live lectures worked really well, as did the use of the comments and Q and A boxes which created a truly interactive vibe. I was able to make a couple of comments and ask a question and I have to say it was considerably less nerve wracking than at 2018 conference in Paris, where I had to stand up in the audience in front of world renounced experts to ask questions, I actually think a ‘text your question in’ format could work really well for the next live conference to complement the in person questioning.

One of the things that struck us most about this conference compared to others that we have attended in the NF community is how much of a focus was on the importance of the patients and their families, this was reflected both in the general tone of the conference, with the opening message to the delegates emphasisng the importance of “making NF visible”; the wonderful video messages from people with NF that were interspersed throughout the event and in the decision to waive the fees for patient and patient representatives. Given that the American conferences typically have a patient day and a professional day, and these are often kept separate this really was a welcome change. As a charity CTT has been campaigning for many years to have the voice of the people living with NF heard, and in particular for the medical professionals to hear the voice of the people living with NF beyond seeing them just as patients, so this was a wonderfully, poignant and meaningful approach to the conference.

Additionally, the removal of fees for students meant that this online platform presented a unique opportunity to promote the field of NF as a worthwhile area of study to people who may never have considered it before. As such we were able to invite students, some of whom already work with CTT for Master’s level projects and others who are considering their career options. This was extremely successful as the following quotations from two students on the MSc Conversion in Psychology Course at Manchester Metropolitan University, attest to.

“It is really promising to see these specialist areas of study, which are often overlooked, being so well represented and with some very promising results. It also helps as a psychology student to see presentations being delivered so clearly and eloquently as it helps to inform future practise for my own presentations”. (Nicola)

Another student on the MSc Conversion, Nicholas also messaged the panel during the conference, telling them he was studying at Manchester Met and saying “This is my first conference of this type and I feel inspired to do what I can to help in the future”

This demonstrates how the online platform has the potential to really inspire the next generation of NF researchers.

Vanessa said, !whilst there was no opportunity for networking which for me is a very important part of attending a conference, it was a great opportunity for anyone interested in NF1 from a professional perspective to learn more without giving up a lot of time – in fact as Carly mentioned I could listen to the talks in my car, or even on a bike ride!  It would be a great idea in the future, if as well as the actual conference, that some of the talks could be relayed via a webinar for those unable to attend. I would hope that this would then lead to more medics in the UK wanting to learn more without having the expense of travelling and taking time away from work. We desperately need more Health Care professionals to become involved”.

Georgina one of our medical advisory board members who attended the conference added “For me one of the highlights was Peggy Wallace talking about her career in NF and the fact that 30 years after we first cloned the gene we still don’t understand it all its actions. It was interesting how she said she was always a big supporter of the two hit theory but was now reverting back to thinking that this may not always be the case. In this day and age it almost seems unfathomable that we don’t completely understand this gene and it is testimony to the complexity of NF. She seemed very confident at the end of her talk that we wouldn’t still be in the dark in another 30 years and of course we do all hope she is correct!”

Sue Huson attended her first international conference in 1985. For her one of the key things has been clinicians and scientists committing their whole careers to NF1. The meeting began with Frances Collins, now head of NIH, reflecting on the progress since the gene was cloned 30 years ago. Peggy Wallace was then in Professor Collins’ lab, and the first author of one of the two gene cloning papers. The author of the second David Viskochil is also still in the field and they both gave highly informative lectures summarising the cloning and progress since. To show how work on NF is increasing, at the time the gene was cloned, the CTF meetings usually attracted 30-40 people, for this meeting over 350 people had registered.

Vanesa also added “It was important for me to see that whilst not always obvious, that there is a lot of work being done to find better treatments for those affected by Neurofibromatosis and this needs to be communicated to those affected”.

I wholeheartedly agree and, although there was a vast amount of information provided over the two days, our top five take homes for people living with NF1 and their families is as follows:

1. Telemedicine

The changing ways that health professionals have had to adapt due to the Covid-19 epidemic has shown the promise for telemedicine in the NF field. This is something as a charity we have always been in support of but the pandemic has pushed this issue into the limelight and it is hopeful in the future that there will be more opportunities for consultations to be done on line. This is likely to be particularly beneficial for people who find arranging hospital visits challenging, due to childcare, transport, anxieties attending hospitals etc. It is also beneficial in terms of getting multidisciplinary options especially if the medical professionals themselves are in a different country. Professor Jaishri Blakely, who is based in Baltimore, said “particularly useful for rare manifestations where multiple specialists are needed”. Telemedicine would not be used in stead of clinic attendance where it is needed but as a precursor or a fo0llow up to see if clinic attendance is necessary, it definitely sounds promising. There are potential issues over licenses between states in the USA but in the UK this is unlikely to be problematic. Indeed, many UK Doctors who had resisted telemedicine pre- Covid, can now see the huge benefit to their practice. More research is needed for the costs versus benefits but we feel it will definitely be part of future practice.

2. Mek inhibitors and Plexiform Tumours

Brigitte Wildeman and Andrea Gross gave an inspiring talk about their work on MEK inhibitors and suggested a bright future for MEK inhibitors for people with plexiform fibromas. They have recently achieved a MAJOR milestone and have had Selumetinib licensed for treatment of symptomatic plexiforms in NF1 – this is the first licenced NF1. The current research suggests that the MEK is most likely to be successful if given in childhood, but that as regrowth is often seen once treatment is stopped that that it may be necessary to continue taking the MEK for a long period of time, Brigitte said, “young patients will likely require treatment for years” and as this is such a new drug it is not possible to tell at the moment if there is a critical age to start treatment or what percentage of patients see re growth after they stop the MEK but the current research indicates that after the teenage years regrowth was not as common. Hopefully as more research is conducted some of these unanswered questions will become clear.

CTT asked when will selumetinib be available more widely outside of the USA and were told that there is an “effort in countries to get Selumetinib more broadly available”. The drug company are now working on approval in the EU. So I think it is just a question of ‘watching this space’ and see what happens.

3. Mek inhibitors and Skin (cutaneous) fibromas

Some very preliminary research in mice conducted by Piotr Topilko in Paris, suggests hope for the future for treatments that reduce the development of the skin fibromas. The research suggests that it may be possible using MEK inhibitors to prevent the skin tumours developing. The research also suggests that it might be possible to identify the development of microtumours (tumours that can be observed microscopically but not yet on the skin) Although human trials are a long way off this is very promising research for people with NF1 and their families for which the uncertainty of how many skin fibromas may be develop is one of the major sources of anxiety. Professor Topilko also described that when they traumatise the mouse skin they develop an increased number of neurofibromas in that area. This something that we have heard described by people with NF1.

4. Distinct profile of ASD in NF1

There is a growing recognition amongst the medical community of the social and behavioural aspects of NF1. CTT works hard to sign post and share stories about these aspects. What is interesting is that the research on animals has shown that mice and flies with NF can develop characteristics relating to Autistic Spectrum disorder (ASD). At a previous conference we attended some years ago I was fascinated by the research on mice and this year I was equally fascinated by the research on flies (drosophilia). Emily Moascato from the University of Pennsylvania showed that male flies with NF1 when put together exhibit courting behavior instead of aggressive behavior indicating that their ability to ‘read’ social ques has been disrupted by having NF1. What I find so promising about animal research on ASD in the context of NF1 is that so often parents are made to feel that their child’s behavior is as a result of poor parenting and not related to NF1 at all, but if you can show in mice and flies that there is a distinct NF1 profile of ASD then those arguments don’t hold water. I am very hopeful for the future that we will see more and more belief in the fact that NF1 and ASD can be related and that as Moascato says NF1 ASD is a “distinct profile compared to the general ASD population”.

5. The future looks bright

Since I first heard about NF1 ten years ago and Vanessa 20 years ago we have often felt like the underdog. Although there have over the last 30 years or so been some wonderful clinicians and researchers, most notably to CTT members our beloved head of the medical board Dr Sue Huson the field as a whole has not got the recognition it has deserved. 2020 has seen a sea change, there is now a real buzz in the NF field both in terms of the research and medical advances and I am very hopeful that this energy will continue to build. As Georgina said “The statistics are amazing and what a way to celebrate the 30th anniversary of cloning the gene than to see the first ever treatment’. It was a very patient centred conference and there was an overwhelming feeling of positivity, even though it was all being done remotely. I did reflect on the fact that it has only been 9 months since the last conference, and yet there was still so much more research and progress even in that very short time”.

CTT has been involved in so many amazing initiatives over the last few years, from our red book campaigning resulting in the body map and insert, the health sketch which now has over 100k views https://www.youtube.com/watch?v=IM7r-U1sKnI; our CPD module; our campaigning to raise awareness amongst early years medical professionals to better diagnose NF1, our camps; our family days out and of course our wonderful support group. and I am looking forward to a better future both medically and socially for people with NF1 and their families. I each year at the conference a leading researcher is awarded the Friedrich Von Recklinghausen award. This year’s recipient, Professor Wade Clapp, summarised these exciting times so well: “first ever drug approved for NF1, the first ever virtual conference, and an unstoppable community, always finding creative solutions to keep standing as one team”.