Investigating NF, advancing treatments and the search for a cure
Neurofibromatosis can cause tumours to grow on nerves, under the skin and deep in the body, therefore each person will face different challenges and potential complications depending on the size and location of the tumours and their rate of growth.
Fortunately, some people will only ever develop mild symptoms, but others will have ongoing, complex health issues that may eventually become life-threatening.
A condition that can impact a person physically, mentally, cognitively, and socially requires ongoing and intensive investigation.
The Children’s Tumour Foundation is one of Australia’s leading charitable contributors to NF research, with millions of dollars invested into key projects through ongoing advocacy efforts and direct funding.
Research Fund
Over the next decade, the Children’s Tumour Foundation aims to seed the growth of research into NF by providing grant funding opportunities to promising, early-career researchers through our "Young Accelerator" grant program. More information will be available on this soon.
NF Clinical symposium
Each year, the Children's Tumour Foundation provides an opportunity for health professionals and researchers to come together, in person and virtually, to network and discuss the latest in medical management, treatment and research into neurofibromatosis and schwannmatosis in Australia and around the globe.
This full day event showcases both Australian and international speakers sharing their knowledge of NF in a mix of lightning talks and longer presentations from knowledgeable clinicians and researchers.
Attendees learn about the latest medical advancements and gain exclusive insight into the current projects from around the globe, paving the way for a brighter future for all people living with NF.
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Recruiting research projects
International NF1 Cutaneous Neurofibroma Consortium Project
Do you have NF1 and wish there were better treatments for neurofibromas? Skin (cutaneous) neurofibromas are lumps in or under the skin. These skin lumps are usually small in size but may increase in number throughout adulthood. Currently, there is no way of predicting how many neurofibromas a person will develop and there are no drug treatments available. This can be a source of distress for people with NF1.
This research aims to work in partnership with adults living with NF1 to improve our understanding of:
- How genetics affects the number of skin neurofibromas a person with NF1 may develop.
- How to treat skin neurofibromas in the future.
Led by Australian Associate Professor Tracey Dudding-Byth, registrations are open for adults with neurofibromatosis type 1 (NF1).
Participants who complete all of the steps in the study submission by the end of June 2024 will have a chance to be one of 10 people to receive an Amazon gift card valued at $100.
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Health concerns of individuals with neurofibromatosis: Supporting Reproductive Decision Making in Neurofibromatosis (NF SURE)
The Royal North Shore Hospital Department of Clinical Genetics, is currently seeking participants for a research project to help identify what is challenging and what is helpful for people with NF making reproductive choices.
All adults with a diagnosis of ANY TYPE NF are invited to join the study. The Genetics team are seeking a wide range of opinions to ensure everyone feels supported. If you would like to share your views, you will be asked to complete an online questionnaire that takes approximately 15 mins to complete.
COMPLETE THE SURVEY
Funded projects
TREATMENTS/CLINICAL TRIALS
The impact that tumours have on organs and other body parts can be debilitating, and even life-threatening. Many tumours are inoperable and only a small number of effective treatments exist.
TiNT: MEK Inhibitor Trial
Who: Australian & New Zealand Haematology and Oncology Group (ANZCHOG)
Where: Various sites across Australia and New Zealand
In 2019, ANZCHOG approached the CTF to support its efforts to run a Phase II MEK Inhibitor clinical trial across multiple paediatric and adolescent/young adult cancer centres in Australia and New Zealand.
The trial is intended to improve treatment options for people with NF1, specifically those with complex tumours. Approximately 60 Australian and New Zealand NF1 patients between the ages of 3 months and 25 years will be recruited to investigate the effectiveness of the drug Trametinib for the treatment of plexiform neurofibromas and optic pathway gliomas.
In addition to monitoring the expected reduction in tumour size, the trial will also monitor the improvement in pain, function and quality of life, as well as brain function and social development. Running for five years, the trial will also consider the impact of the drug on learning and behaviour over time.
Once the trial is complete, the results will contribute to a body of evidence to support advocacy efforts to make this drug available to everyone impacted by NF1 as a front-line treatment that is funded under the Federal Government PBS.
The Children's Tumour Foundation have invested $100,000 into the study, with another $50,000 to be secured. In June 2020, the Federal Government announced a significant investment ($760k) into childhood brain cancer clinical trials from the Medical Research Future Fund (MRFF) and is the first ever government funding to be granted to NF research.
This is huge news for the NF community and means full funding of the trial is now within reach!
investigative STUDIES
Right now there is no way of knowing where and when a tumour might form or how it might impact function. Investigative studies into new technologies that have the potential to aid or one day cure NF are incredibly important and we are incredibly proud of our investment into these studies over the years.
New Gene Editing Technology (CRISPR)
Who: Children’s Hospital at Westmead and Murdoch Children’s Research Institute
Where: Sydney
In collaboration with the Children’s Hospital at Westmead and the Murdoch Children’s Research Institute (MCRI), a research project has been developed that uses new gene editing technology (CRISPR) in the hope of a new treatment approach for NF1.
An application for funding was successfully made to the US CTF to support this. The Centre for Translational Research (funded by the CTF Australia) will provide the clinical support, with laboratory support to come from the MCRI in Melbourne.
Neurofibromatosis Type 1 Severity Scale
Who: Murdoch Children’s Research Institute and The Royal Children’s Hospital
Where: Melbourne
This study tool was developed by Dr Stacie Wang, the first Barney NF Fellow, and resulted in the development of an overall scale to help provide a succinct measure of NF1.
This will be beneficial to facilitate optimal clinical care, clinical communication between specialties, as well as being extremely useful in clinical trial and research about NF1.
If you currently attend the Royal Children’s Hospital NF Clinic in Melbourne you may be approached at your next clinic appointment to participate in this study.
The link between Children with NF1 & Auditory Processing Deficits with Associated Speech Perception Problems
Who: Murdoch Children’s Research Institute and The University of Melbourne
Where: Melbourne
Children and adults with NF1 were recruited for audiological assessment to determine whether there were any auditory processing and speech recognition problems associated with this condition. The results showed that the deficits were severe enough to impact everyday communication and the educational progress of a child with NF1.
The study was overseen by Alice Maier, Barney NF Fellow (research), who has now extended this work to study how assisted listening devices can improve efficacy in treating audiological deficits in NF1. With compelling results, the study will be broadened for a larger sample size.
The Predictors of Autism in Neurofibromatosis Type 1: Development to Adolescence (PANDA)
Who: Murdoch Children’s Research Institute
Where: Melbourne
A sub-section of the PANDA study was developed by Dr Lauren Taylor, Barney NF Fellow, who is using functional MRI’s to observe the differences in the Default Mode Network and how that relates to Autism in children with NF1.
The aim of this study is to establish whether children with NF1 demonstrate abnormal function within the social brain network, and the relationship between structural and functional brain abnormalities and ASD/social dysfunction in children with NF1.
Documenting and Characterising the Various MRI Brain Changes
Who: Murdoch Children’s Research Institute
Where: Melbourne
RCH have been documenting and characterising various MRI brain changes in children with NF1 since its inception in 2015.
While there are some studies that have previously described common brain MRI findings in NF1, the results are incomplete and further changes have been seen anecdotally, but not yet described in the literature.
This study aims to quantify the incidence of abnormal MRI brain findings such as T2 hyperintensities, gliomas, Moyamoya syndrome, and aqueductal stenosis.
Cell-free DNA Biobank
Who: The Royal Children’s Hospital and the Royal Melbourne Hospital
Where: Melbourne
There is a lifetime risk of plexiform neurofibromas developing into MPNSTs and the current method for detecting transformation is limited in that there is an overlap in the values the testing produces for malignant and non-malignant tumours. Recent studies have revealed that collecting plasma, which contains cell-free DNA (cfDNA), is useful in detecting and classifying tumours.
This study aims to build a biobank of cfDNA to further research and determine the efficacy of this technique in NF1 tumour transformation. Plasma samples will be collected every 6-12 months from children over the age of 16 years with a diagnosis of NF1. Later, once they are transitioned across to RMH this sample collection will continue.
These samples will then be stored for future analysis and comparison with tumour tissue for any of those children who do go on to develop an MPNST.
research centre for translational excellence
The Centre for Translational Excellence was established in 2018 with funding from the Hughes and Listorti families. Funds have contributed to research into topical treatments for cutaneous neurofibromas, breast cancer screening study for young women with NF1 amongst others.
Breakthrough Breast Screening Study
Who: The Centre For Translational Research, Royal North Shore Hospital (RNSH)
Where: Sydney
The NF1 Breast Screening Study is the first of its kind in Australia and commenced at RNSH in response to evidence that women with NF1 are at an increased risk of breast cancer, especially those aged between 35-50 years.
The aim of the study was to establish a successful breast screening program in women with NF1 which encompasses:
- Screening all women with NF1 who are at an increased risk of breast cancer
- Ensuring that screening is done with the most appropriate test
- Ensuring the screening study does not cause unnecessary psychological distress
- Ensuring these women are linked into a high-risk breast clinic for ongoing surveillance and care.
The study is still in its recruitment and analysis phase. These women have also been successfully integrated into the high-risk breast cancer clinic at RNSH where they will continue to have ongoing breast cancer surveillance under the care of a breast surgeon.
An early success has been the alteration of the national cancer screening guidelines, which lowers the age of screening commencement from 50 to 30 years and provides direction as to better screening tests for use in these women.
The plan is to establish a state-wide multi-centre NF1 Breast Screening program where women with NF1 are linked into high-risk breast clinics throughout NSW, where they will receive appropriate, quality care through the NSW healthcare system.
This study is currently in the process of being expanded into two other tertiary centres within NSW and recruitment is ongoing.
To find out if we are eligible to be part of the study, Genomic Cause of Malignant Peripheral Nerve Sheath Tumours:
Who: Royal North Shore Hospital and the Garvan Institute
Where: Sydney
A collaboration between the Garvan Institute and RNSH helped establish a research project to examine the genomic cause of malignant peripheral sheath tumours in patients with Schwannomatosis. This project is currently underway with significant support from the Garvan Institute.
Patients have been identified and the project has been designed with the goal to have the Garvan laboratory perform the sequencing.
fellowships
Barney Fellowship
We are committed to assisting clinical and research excellence through the full or partial funding of dedicated NF Fellowships in Australia.
To date, we have funded a Neurology Clinical Fellowship with funding from the Barney NF Fellow at the Royal Children's Hospital in Melbourne. While this fellowship has reached it's conclusion, we are committed to moving forward with similar proposals in the future.