New Frontiers 2 (NF2): Clinical Registry and Biobank for Patients with Neurofibromatosis Type 2-Related Schwannomatosis and Other Rare Forms of Schwannomatosis (SWN)
Walter and Eliza Hall Institute of Medical Research
300 participants
May 5, 2025
Observational
Conditions
Summary
New Frontiers 2 is a non-interventional clinical registry and biobank designed to study the treatment and outcomes of patients with Neurofibromatosis Type 2 related schwannomatosis (NF2) and other rare forms of schwannomatosis (SWN) in routine clinical practice. Who is it for? You may be eligible to join this program if you have been diagnosed with Neurofibromatosis Type 2 related schwannomatosis (NF2) or other rare forms of schwannomatosis (SWN) and are receiving routine clinical care at participating hospitals in Australia. Study details This is a prospective, non-interventional clinical registry paired with a biobank for collecting clinical data and biospecimens from patients. The registry will collect comprehensive data on disease presentation, surgical and systemic treatments, and multidisciplinary management. Biospecimens, including tumour tissue, CSF, and blood, will also be collected with appropriate consent to support translational research. The primary goal is to create a national registry that allows for the detailed study of SWN patients across Australia, fostering insights into disease characteristics and outcomes. It is hoped to support future translational research and registry-based clinical trials.
Eligibility
Inclusion Criteria24
- Fulfil the diagnosis of NF2-associated Schwannomatosis*
- The patient and/or their parent/guardian (if the patient is under 18 years of age) must be able to provide written consent for participation in study activities.
- Diagnostic criteria for NF2-associated Schwannomatosis (SWN):
- Presence of bilateral vestibular schwannoma, or an identical pathogenic variant of NF2 in at least 2 anatomically distinct NF2-associated tumors (schwannoma, meningioma, ependymoma)
- OR
- Two of the following major criteria
- OR
- One major AND two minor criteria
- Major criteria:
- Unilateral vestibular schwannoma
- Non-sibling first-degree relative with NF2
- Two or more meningiomas
- NF2 pathogenic variant in unaffected tissue
- Minor criteria:
- Ependymoma, meningioma, or schwannoma (can count >1 of a type)
- Juvenile subcapsular or cortical cataract, retinal hamartoma, epiretinal membrane in a person <40 years (can count only once)
- Diagnostic criteria for SMARCB1- or LZTR1-related SWN:
- At least 1 pathologically confirmed schwannoma or hybrid nerve sheath tumor and a SMARCB1 (or LZTR1) pathogenic variant in unaffected tissue
- OR
- Shared SMARCB1 or LZTR1 pathogenic variant in 2 schwannomas or hybrid nerve sheath tumors
- Diagnostic criteria for SWN in the absence of pathogenic variants in blood, but presence of loss of chromosome 22q in multiple schwannomas:
- LOH of the same chromosome 22q markers in 2 anatomically distinct schwannomas or hybrid nerve sheath tumors
- AND
- A different NF2 pathogenic variant in each tumor that cannot be detected in unaffected tissue
Exclusion Criteria1
- None.
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Interventions
Neurofibromatosis Type 2 (NF2) is a rare genetic disorder caused by mutations in the NF2 gene, leading to the development of benign tumors on nerves, including vestibular schwannomas, meningiomas, and ependymomas. Typically presenting in early adulthood, NF2 is associated with significant morbidity, including hearing loss, vision impairment, and neurological deficits, greatly affecting quality of life. Due to its rarity, treatment options are limited to symptomatic management, and there is a pressing need for real-world data through clinical registries to better understand the disease and inform future research efforts. New Frontiers 2 is a non-interventional clinical registry and virtual biobank designed to understand the treatment and outcomes of patients with Neurofibromatosis Type 2 related schwannomatosis (NF2) and other rare forms of schwannomatosis (SWN) in routine clinical practice at participating hospitals. The clinical registry will help identify the characteristics and clinical outcomes of patients with SWN and enable comparisons across multiple centres. In addition, the virtual biobank will support a wide range of research projects, including quality assurance audits, registry-based clinical trials, and translational research. Data captured in the clinical registry will include patient presentation, disease course, surgical interventions, systemic therapies, and details of multi-disciplinary management. Biospecimens such as archival tumour tissue, cerebrospinal fluid (CSF), and blood may be collected from tissue banks or anatomical pathology departments. Only leftover biomaterial from standard-of-care procedures will be used in this study, no additional procedures are performed. This is a non-interventional study. There is an optional one-time blood test for adults who choose to take part. This sample will help researchers compare normal (germline) DNA with tumour DNA in some of the New Frontiers 2 sub-studies. Authorised study personnel will handle the collection of biospecimens and clinical data. No input beyond standard care will be required from participants. Requests for tissue will be made to relevant tissue custodians, such as biobanks or anatomical pathology departments where the biospecimens are held, and clinical data will be sourced from patient medical records by site personnel. The target follow-up duration of the study is annually over 5 years.
Locations(4)
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ACTRN12624001318572