Day 1: Patient meeting
Day 1 was kicked off by the Patient Meeting. This meeting was recorded by the organizers, with captions, and can be watched via NF Patients on YouTube. A huge thank you to the organizing team and committee for a great event!
Next Professor Gareth Evans, NHS Foundation Trust, presented an Overview of NF1 & NF2-SWN and an announcement of the new name “NF2 (Merlin) related Schwannomatosis” - abbreviated to NF2-SWN, in summary:
"The updated diagnostic criteria for schwannomatosis classify each disorder according to the specific gene harboring a pathogenic variant. Therefore, NF2 is now termed NF2-related schwannomatosis. What was previously referred to as “schwannomatosis” is now termed either SMARCB1-related schwannomatosis, LZTR1-related schwannomatosis, 22q-related schwannomatosis, schwannomatosis-NOS (not otherwise specified), or schwannomatosis NEC (not elsewhere classified)."
Up next Mary Thomas, Specialist Nurse at Guys, gave advice regarding Diagnosis & Access to Care. She also provided an overview on benefits, PIP and pensions in the UK.
Day 2: Clinical meeting
Gilles Atlan (Vice President of NF2 BioSolutions USA) presented an update on all the research projects that NF2 BioSolutions is currently sponsoring. This presentation was attended by 300 clinicians and researchers who were astonished to see what a patient-led nonprofit can achieve thanks to the NF2 patient community support and their donations.
Some prominent updates included the development of three cell cultures from direct conversion of fibroblasts derived from skin cells of NF2 patients into induced Schwann cells, a biotech's fundraising efforts to move Dr Brenner's Suicide Gene approach to trial. To read the full update visit our website here.
This presentation was dedicated to NF2 fighter Allan Xiao. Allan passed away recently at the age of 32, due to NF2 complications.
You can watch the recording here
Grace presented her work on analyzing the similarities between sporadic VS (from non-NF2 patients) and NF2 VS (from NF2 patients). The cells in both types of tumours appear to be very similar, which means that the sporadic VS, which are way more common, may be used for NF2 research. Also, future targeted immunotherapies in sporadic VS are likely to be equally effective in NF2 VS.
Adam presented his research on using high-dimensional imaging of the vestibular schwannoma (VS) microenvironment. He highlighted that T-cells, which function to kill tumour cells, appear to be almost always associated with macrophages in VS. It is well known that macrophages can suppress T-cells and stop them from killing the tumour cells, and so he is exploring exactly how T-cells and macrophages interact within VS, and how this may lead to new immunotherapeutic treatments for both sporadic and NF2-related Schwannomatosis patients
Afterwards, Professor Stavros Stivaros, Paediatric Neuroradiology & Transitional Imaging gave a talk on key neuroradiological features in NF1 & NF2-SWN. He informed the audience that there is a study happening, available in a year, on the effects of Gadolinium (Contrast agent) used in MRIs on the body. The aim of this study is to find out the long-term usage risk for patients.
To close the day, a big announcement was received: Professor Gareth Evans announced his retirement. He is now working one day a week for NHS matters, only dealing with NF2-SWN and breast/ovarian cancer since August 23rd 2022. Any clinical issues should be directed to emma.burkitt-wright@mft.nhs.uk
Day 3
During day three, Dr. Evans gave a talk about updated diagnosis criteria for NF2-SWN. The risk of malignancy in radiation, retrospective study over 20 years.
Dr. Michel Kalamarides presented about NF2-SWN spinal ependymoma. The main topic of his presentation was the preemptive management of this kind of tumor. His biggest recommendation was that if the spinal ependymoma is growing with no symptoms present, then tumor removal surgery or debulking should be considered and discussed with the patient. Otherwise, when symptoms are present beforehand, surgery becomes more challenging and with higher risks.
He also talked about the NF2 BioSolutions sponsored project to design mice that develop NF2 ependymoma; these mice are essential for researchers to be able to test novel therapies for NF2 ependymoma.
Professor Scott Plotkin, Professor of Neurobiology at Harvard presented the ongoing trial on Brigatinib and its encouraging results on non-VS schwannomas and meningiomas. The interim trial results will be published in December and the final trial results in June 2023.
Additionally, Glenn Morrison, Rare Disease Drug Developer from Alexion gave a talk about the likelihood of launching a drug for meningiomas in NF2 in the next 18 months.