NF2-related schwannomatosis

Summary

NF2-related schwannomatosis (MONDO:0007039) is a disease caused by NF2 (GenCC Definitive), with 2 cohort genes and 39 clinical trials. Top therapeutic interventions include lapatinib, axitinib, and brigatinib.

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Causal gene: NF2 (GenCC Definitive)
• Cohort genes: 2
• ClinVar variants: 1,924
• Phenotypes (HPO): 47
• Clinical trials: 39

Clinical features

Epidemiology

Prevalence records

4 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	1.7	Europe	Validated
Point prevalence	1-9 / 100 000	1.78	United Kingdom	Validated
Prevalence at birth	1-9 / 100 000	3	United Kingdom	Validated
Prevalence at birth	1-9 / 100 000	2.56	Finland	Validated

Signs & symptoms

Clinical features (HPO)

47 HPO clinical features (Orphanet curated; top 47 by frequency):

HPO ID	Term	Frequency
HP:0030430	Neuroma	Very frequent (80-99%)
HP:0000407	Sensorineural hearing impairment	Frequent (30-79%)
HP:0000478	Abnormality of the eye	Frequent (30-79%)
HP:0002196	Myelopathy	Frequent (30-79%)
HP:0002858	Meningioma	Frequent (30-79%)
HP:0007663	Reduced visual acuity	Frequent (30-79%)
HP:0007787	Posterior subcapsular cataract	Frequent (30-79%)
HP:0009589	Bilateral vestibular schwannoma	Frequent (30-79%)
HP:0009593	Peripheral schwannoma	Frequent (30-79%)
HP:0010302	Spinal cord tumor	Frequent (30-79%)
HP:0100009	Intracranial meningioma	Frequent (30-79%)
HP:0100963	Hyperesthesia	Frequent (30-79%)
HP:0000238	Hydrocephalus	Occasional (5-29%)
HP:0000360	Tinnitus	Occasional (5-29%)
HP:0000572	Visual loss	Occasional (5-29%)
HP:0000587	Abnormal optic nerve morphology	Occasional (5-29%)
HP:0000618	Blindness	Occasional (5-29%)
HP:0000646	Amblyopia	Occasional (5-29%)
HP:0000651	Diplopia	Occasional (5-29%)
HP:0000763	Sensory neuropathy	Occasional (5-29%)
HP:0000953	Hyperpigmentation of the skin	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0001260	Dysarthria	Occasional (5-29%)
HP:0001269	Hemiparesis	Occasional (5-29%)
HP:0001271	Polyneuropathy	Occasional (5-29%)
HP:0001317	Abnormal cerebellum morphology	Occasional (5-29%)
HP:0002015	Dysphagia	Occasional (5-29%)
HP:0002172	Postural instability	Occasional (5-29%)
HP:0002317	Unsteady gait	Occasional (5-29%)
HP:0002354	Memory impairment	Occasional (5-29%)
HP:0002512	Brain stem compression	Occasional (5-29%)
HP:0002888	Ependymoma	Occasional (5-29%)
HP:0003474	Somatic sensory dysfunction	Occasional (5-29%)
HP:0006824	Cranial nerve paralysis	Occasional (5-29%)
HP:0008069	Neoplasm of the skin	Occasional (5-29%)
HP:0009027	Foot dorsiflexor weakness	Occasional (5-29%)
HP:0009594	Retinal hamartoma	Occasional (5-29%)
HP:0009831	Mononeuropathy	Occasional (5-29%)
HP:0010628	Facial palsy	Occasional (5-29%)
HP:0031189	Wrist drop	Occasional (5-29%)
HP:0100010	Spinal meningioma	Occasional (5-29%)
HP:0100014	Epiretinal membrane	Occasional (5-29%)
HP:0100019	Cortical cataract	Occasional (5-29%)
HP:0002381	Aphasia	Very rare (<1-4%)
HP:0007968	Remnants of the hyaloid vascular system	Very rare (<1-4%)
HP:0009592	Astrocytoma	Very rare (<1-4%)
HP:0009733	Glioma	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	NF2-related schwannomatosis
Mondo ID	MONDO:0007039
OMIM	101000
Orphanet	637
DOID	DOID:0111252
ICD-10-CM	Q85.02
ICD-11	14808714
NCIT	C3274
SNOMED CT	92503002
UMLS	C0027832
MedGen	18014
GARD	0007193
MedDRA	10000523, 10029271
Is cancer (heuristic)	no

Also known as: acoustic neurinoma bilateral · acoustic neurinoma, bilateral · acoustic neurofibromatosis · acoustic schwannomas bilateral · acoustic Schwannomas, bilateral · bilateral acoustic neurofibromatosis · central neurofibromatosis · full neurofibromatosis type 2 · full NF2 · neurofibromatosis 2 · neurofibromatosis central type · neurofibromatosis type 2 · neurofibromatosis type II · neurofibromatosis, type II · NF2 · NF2-related schwannomatosis · nonmosaic neurofibromatosis type 2 · nonmosaic NF2-related schwannomatosis · SWNV

Data availability: 1,924 ClinVar variants · 4 GenCC gene-disease records · 21 cell lines.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › neurofibromatosis › NF2-related schwannomatosis

Related subtypes (4): schwannomatosis, neurofibromatosis, type IV, of Riccardi, neurofibromatosis-Noonan syndrome, neurofibromatosis type 1

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

271 likely benign, 233 uncertain significance, 53 pathogenic, 27 conflicting classifications of pathogenicity, 6 likely pathogenic, 5 benign/likely benign, 3 pathogenic/likely pathogenic, 2 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1076222	NC_000022.10:g.(?29083885)(30337586_?)del	AP1B1	Pathogenic	criteria provided, single submitter
1691507	NC_000022.11:g.29602212_29610711del	LOC130067183	Pathogenic	criteria provided, single submitter
1041202	NC_000022.10:g.(?30050636)(30050946_?)del	NF2	Pathogenic	criteria provided, single submitter
1067623	NM_000268.4(NF2):c.363+2T>C	NF2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1069587	NM_000268.4(NF2):c.375_376del (p.Gln125fs)	NF2	Pathogenic	criteria provided, single submitter
1070353	NM_000268.4(NF2):c.648_649dup (p.Tyr217fs)	NF2	Pathogenic	criteria provided, single submitter
1070378	NC_000022.10:g.(?29999982)(30090797_?)del	NF2	Pathogenic	criteria provided, single submitter
1070379	NC_000022.10:g.(?29999988)(30090791_?)del	NF2	Pathogenic	criteria provided, single submitter
1072529	NC_000022.10:g.(?_30051485)_30051628del	NF2	Pathogenic	criteria provided, single submitter
1072589	NM_000268.4(NF2):c.240+2T>C	NF2	Pathogenic	criteria provided, single submitter
1072590	NM_000268.4(NF2):c.241-2A>G	NF2	Pathogenic	criteria provided, single submitter
1074395	NM_000268.4(NF2):c.481G>T (p.Gly161Ter)	NF2	Pathogenic	criteria provided, single submitter
1074791	NM_000268.4(NF2):c.457dup (p.Tyr153fs)	NF2	Pathogenic	criteria provided, single submitter
1074869	NM_000268.4(NF2):c.320_321del (p.Glu107fs)	NF2	Pathogenic	criteria provided, single submitter
1075085	NM_000268.4(NF2):c.1606C>T (p.Gln536Ter)	NF2	Pathogenic	criteria provided, multiple submitters, no conflicts
1075185	NM_000268.4(NF2):c.1621G>T (p.Glu541Ter)	NF2	Pathogenic	criteria provided, multiple submitters, no conflicts
1076273	NM_000268.4(NF2):c.1198C>T (p.Gln400Ter)	NF2	Pathogenic	criteria provided, single submitter
1299301	NM_000268.4(NF2):c.770_784del (p.Pro257_Ile261del)	NF2	Pathogenic	no assertion criteria provided
1319646	NM_000268.4(NF2):c.448-1G>A	NF2	Pathogenic	criteria provided, multiple submitters, no conflicts
1323362	NM_000268.4(NF2):c.114+1G>T	NF2	Pathogenic	criteria provided, single submitter
1329492	NM_000268.4(NF2):c.447+2T>C	NF2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1354127	NM_000268.4(NF2):c.1341-1G>A	NF2	Pathogenic	criteria provided, single submitter
1354329	NM_000268.4(NF2):c.1627_1628del (p.Lys543fs)	NF2	Pathogenic	criteria provided, single submitter
1368800	NM_000268.4(NF2):c.1051del (p.Arg351fs)	NF2	Pathogenic	criteria provided, single submitter
1389374	NM_000268.4(NF2):c.999+2T>G	NF2	Pathogenic	criteria provided, single submitter
1422073	NM_000268.4(NF2):c.1490del (p.Ser497fs)	NF2	Pathogenic	criteria provided, single submitter
1429536	NM_000268.4(NF2):c.1575-6C>A	NF2	Pathogenic	criteria provided, single submitter
1430714	NM_000268.4(NF2):c.363+1G>T	NF2	Pathogenic	criteria provided, single submitter
1451331	NM_000268.4(NF2):c.1074del (p.Arg359fs)	NF2	Pathogenic	criteria provided, single submitter
1451707	NM_000268.4(NF2):c.229del (p.Met77fs)	NF2	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
NF2	Definitive	Autosomal dominant	NF2-related schwannomatosis	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
NF2	Orphanet:2495	Meningioma
NF2	Orphanet:634475	Mosaic NF2-related schwannomatosis
NF2	Orphanet:637	Full NF2-related schwannomatosis
NF2	Orphanet:93921	Full schwannomatosis
AP1B1	Orphanet:171851	MEDNIK syndrome

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
NF2	HGNC:7773	ENSG00000186575	P35240	Merlin	gencc,clinvar
AP1B1	HGNC:554	ENSG00000100280	Q10567	AP-1 complex subunit beta-1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
NF2	Merlin	Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis.
AP1B1	AP-1 complex subunit beta-1	Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Antibody/Immunoglobulin	1	14.6×	0.135
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
NF2	Other/Unknown	no		FERM_domain, Ez/rad/moesin-like, Moesin_tail_sf
AP1B1	Antibody/Immunoglobulin	yes		Armadillo, Clathrin/coatomer_adapt-like_N, Clathrin_a/b/g-adaptin_app_Ig

Expression context

Cohort genes with no expression data: 0.

2 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
endometrium epithelium	2
dorsal motor nucleus of vagus nerve	1
stromal cell of endometrium	1
middle frontal gyrus	1
paraflocculus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
NF2	283	ubiquitous	marker	endometrium epithelium, stromal cell of endometrium, dorsal motor nucleus of vagus nerve
AP1B1	286	ubiquitous	marker	endometrium epithelium, middle frontal gyrus, paraflocculus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NF2	3,208
AP1B1	510

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
AP1B1	Q10567	20
NF2	P35240	6

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 24. Enrichment computed across 2 evidence-associated genes (2 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Nef mediated downregulation of MHC class I complex cell surface expression	1	571.0×	0.021	AP1B1
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	1	317.2×	0.021	AP1B1
The role of Nef in HIV-1 replication and disease pathogenesis	1	317.2×	0.021	AP1B1
RHO GTPases activate PAKs	1	271.9×	0.021	NF2
Host Interactions of HIV factors	1	167.9×	0.021	AP1B1
Lysosome Vesicle Biogenesis	1	163.1×	0.021	AP1B1
Fcgamma receptor (FCGR) dependent phagocytosis	1	139.3×	0.021	NF2
trans-Golgi Network Vesicle Budding	1	126.9×	0.021	AP1B1
Immune System	2	13.0×	0.021	NF2, AP1B1
Golgi Associated Vesicle Biogenesis	1	100.2×	0.024	AP1B1
Regulation of actin dynamics for phagocytic cup formation	1	92.1×	0.024	NF2
HIV Infection	1	59.5×	0.033	AP1B1
MHC class II antigen presentation	1	44.6×	0.041	AP1B1
RHO GTPase Effectors	1	34.0×	0.050	NF2
Membrane Trafficking	1	18.5×	0.078	AP1B1
Vesicle-mediated transport	1	17.4×	0.078	AP1B1
Signaling by Rho GTPases	1	17.1×	0.078	NF2
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1	16.7×	0.078	NF2
Viral Infection Pathways	1	15.4×	0.079	AP1B1
Adaptive Immune System	1	14.9×	0.079	AP1B1
Innate Immune System	1	12.8×	0.086	NF2
Infectious disease	1	12.4×	0.086	AP1B1
Disease	1	6.5×	0.153	AP1B1
Signal Transduction	1	5.1×	0.187	NF2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
Schwann cell proliferation	1	2808.7×	0.004	NF2
regulation of gliogenesis	1	2808.7×	0.004	NF2
negative regulation of cell growth involved in contact inhibition	1	1685.2×	0.004	NF2
basolateral protein secretion	1	1685.2×	0.004	AP1B1
regulation of organelle assembly	1	1685.2×	0.004	NF2
negative regulation of Schwann cell proliferation	1	1203.7×	0.004	NF2
regulation of hippo signaling	1	1203.7×	0.004	NF2
regulation of protein localization to nucleus	1	1053.2×	0.004	NF2
positive regulation of early endosome to late endosome transport	1	936.2×	0.004	NF2
positive regulation of protein localization to early endosome	1	842.6×	0.004	NF2
regulation of neural precursor cell proliferation	1	842.6×	0.004	NF2
negative regulation of osteoblast proliferation	1	766.0×	0.004	NF2
osteoblast proliferation	1	702.2×	0.004	NF2
regulation of stem cell proliferation	1	702.2×	0.004	NF2
ectoderm development	1	601.9×	0.005	NF2
lens fiber cell differentiation	1	526.6×	0.005	NF2
negative regulation of cell-cell adhesion	1	495.6×	0.005	NF2
negative regulation of cell-matrix adhesion	1	443.5×	0.005	NF2
negative regulation of receptor signaling pathway via JAK-STAT	1	443.5×	0.005	NF2
melanosome assembly	1	443.5×	0.005	AP1B1
hippo signaling	1	366.4×	0.005	NF2
platelet dense granule organization	1	337.0×	0.006	AP1B1
cell-cell junction organization	1	312.1×	0.006	NF2
mesoderm formation	1	247.8×	0.007	NF2
positive regulation of stress fiber assembly	1	156.0×	0.010	NF2
odontogenesis of dentin-containing tooth	1	150.5×	0.010	NF2
negative regulation of MAPK cascade	1	150.5×	0.010	NF2
positive regulation of cell differentiation	1	133.8×	0.011	NF2
determination of left/right symmetry	1	127.7×	0.011	AP1B1
hippocampus development	1	115.4×	0.012	NF2

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
NF2	0	0
AP1B1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
AP1B1	1	Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	AP1B1
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	NF2

Undrugged target profiles

2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
NF2	0	—
AP1B1	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 39.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	17
Not specified	14
EARLY_PHASE1	3
PHASE1/PHASE2	2
PHASE1	2
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05130866	PHASE2/PHASE3	TERMINATED	Efficacy and Safety of REC-2282 in Patients With Progressive Neurofibromatosis Type 2 (NF2) Mutated Meningiomas
NCT03079999	PHASE2	ACTIVE_NOT_RECRUITING	Study of Aspirin in Patients With Vestibular Schwannoma
NCT04374305	PHASE2	RECRUITING	Innovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2)
NCT05521048	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Doxycycline in Cutaneous Schwannoma (NF2)
NCT07131722	PHASE1/PHASE2	NOT_YET_RECRUITING	Study to Determine Optimal Dose, Evaluate the Efficacy and Safety of PRG-N-01 in Patients With Neurofibromatosis Type II
NCT00004437	PHASE2	COMPLETED	Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2
NCT00911248	PHASE2	TERMINATED	PTC299 for Treatment of Neurofibromatosis Type 2
NCT00973739	PHASE2	COMPLETED	Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors
NCT01125046	PHASE2	COMPLETED	Bevacizumab in Treating Patients With Recurrent or Progressive Meningiomas
NCT01207687	PHASE2	COMPLETED	Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2)
NCT01345136	PHASE2	TERMINATED	Study of RAD001 for Treatment of NF2-related Vestibular Schwannoma
NCT01419639	PHASE2	COMPLETED	Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2
NCT01490476	PHASE2	COMPLETED	Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients
NCT01767792	PHASE2	COMPLETED	Phase 2 Study of Bevacizumab in Children and Young Adults With NF 2 and Progressive Vestibular Schwannomas
NCT02104323	PHASE2	COMPLETED	Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors
NCT02129647	PHASE2	COMPLETED	Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas
NCT02831257	PHASE2	COMPLETED	AZD2014 In NF2 Patients With Progressive or Symptomatic Meningiomas
NCT02934256	PHASE2	COMPLETED	Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors
NCT03095248	PHASE2	TERMINATED	Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors
NCT04283669	PHASE2	COMPLETED	Phase 2 Clinical Trial of Crizotinib for Children and Adults With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas
NCT00030043	PHASE1	COMPLETED	An Implant for Hearing Loss Due to Removal of Neurofibromatosis 2 Tumors
NCT01552434	PHASE1	TERMINATED	Bevacizumab and Temsirolimus Alone or in Combination With Valproic Acid or Cetuximab in Treating Patients With Advanced or Metastatic Malignancy or Other Benign Disease
NCT00863122	EARLY_PHASE1	COMPLETED	Concentration and Activity of Lapatinib in Vestibular Schwannomas
NCT01880749	EARLY_PHASE1	COMPLETED	Exploring the Activity of RAD001 in Vestibular Schwannomas and Meningiomas
NCT02282917	EARLY_PHASE1	TERMINATED	Exploratory Evaluation of AR-42 Histone Deacetylase Inhibitor in the Treatment of Vestibular Schwannoma and Meningioma
NCT01885767	Not specified	RECRUITING	Neurofibromatosis (NF) Registry Portal
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT07420751	Not specified	ACTIVE_NOT_RECRUITING	Assessment of Patient Experience With Auto-Captioning Glasses in NF2-Related-Schwannomatosis
NCT00004483	Not specified	UNKNOWN	NF2 Natural History Consortium
NCT02246231	Not specified	COMPLETED	Effect of Implant Position on Magnetic Resonance Image Distortion
NCT02298270	Not specified	COMPLETED	Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype
NCT02589912	Not specified	NO_LONGER_AVAILABLE	Compassionate Use Arm - ABI541 ABI for 10 NF2 Patients
NCT02811718	Not specified	COMPLETED	Resiliency Training for Patients With NF2 Via Videoconferencing With Skype
NCT03210285	Not specified	COMPLETED	WES of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data
NCT03406208	Not specified	COMPLETED	Resiliency Training for Adults With Neurofibromatosis Via Live Videoconferencing
NCT03617276	Not specified	COMPLETED	Reliability of Functional Outcome Measures in Neurofibromatosis 2
NCT03893643	Not specified	UNKNOWN	Cutaneous and Mucosal Manifestations of Neurofribromatosis Type 2 in Children Under 15
NCT04890132	Not specified	UNKNOWN	Vestibular Precision: Physiology & Pathophysiology
NCT05685836	Not specified	UNKNOWN	89Zr-Bevacizumab PET/CT Imaging in NF2 Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LAPATINIB	4	2
AXITINIB	4	1
BRIGATINIB	4	1
CRIZOTINIB	4	1
NERATINIB	4	1
RETIFANLIMAB	4	1
SELUMETINIB	4	1
ENDOSTATIN	3	1
ICOTINIB	3	1
AR-42	2	2
EMVODODSTAT	2	1
VISTUSERTIB	2	1
CHEMBL3939307	0	1
CHEMBL4463209	0	1
CHEMBL1825138	0	1
CHEMBL1825141	0	1
CHEMBL3397300	0	1