CRLF3

Summary

CRLF3 (cytokine receptor like factor 3, HGNC:17177) is a protein-coding gene on chromosome 17q11.2, encoding Cytokine receptor-like factor 3 (Q8IUI8). May play a role in the negative regulation of cell cycle progression.

This gene encodes a cytokine receptor-like factor that may negatively regulate cell cycle progression at the G0/G1 phase. Studies of the related rat protein suggest that it may regulate neuronal morphology and synaptic vesicle biogenesis. This gene is one of several genes located in the neurofibromatosis type I tumor suppressor region on the q arm of chromosome 17, a region that is subject to microdeletions, duplications, chromosomal breaks and rearrangements. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2 and 5.

Source: NCBI Gene 51379 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 53 total — 2 pathogenic
• MANE Select transcript: NM_015986

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17177
Approved symbol	CRLF3
Name	cytokine receptor like factor 3
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	CREME9, CYTOR4
Ensembl gene	ENSG00000176390
Ensembl biotype	protein_coding
OMIM	614853
Entrez	51379

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000324238, ENST00000577725, ENST00000578692, ENST00000583527, ENST00000583805, ENST00000585268, ENST00000885411, ENST00000885412, ENST00000921129

RefSeq mRNA: 1 — MANE Select: NM_015986 NM_015986

CCDS: CCDS32607

Canonical transcript exons

ENST00000324238 — 8 exons

Exon	Start	End
ENSE00001285559	30803901	30804108
ENSE00001309362	30824523	30824692
ENSE00001326083	30782684	30784443
ENSE00003458420	30797311	30797398
ENSE00003531503	30785919	30786031
ENSE00003554180	30792440	30792572
ENSE00003563630	30793450	30793672
ENSE00003614773	30796160	30796337

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 95.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.3161 / max 535.4932, expressed in 1787 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165196	15.2146	1787
165197	0.1015	38

Top tissues by expression

294 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
trabecular bone tissue	UBERON:0002483	95.67	gold quality
mononuclear cell	CL:0000842	95.07	gold quality
leukocyte	CL:0000738	95.04	gold quality
monocyte	CL:0000576	94.99	gold quality
bone marrow	UBERON:0002371	93.95	gold quality
blood	UBERON:0000178	93.78	gold quality
lymph node	UBERON:0000029	92.81	gold quality
epithelium of nasopharynx	UBERON:0001951	92.50	gold quality
thymus	UBERON:0002370	92.34	gold quality
bone marrow cell	CL:0002092	91.88	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.12	gold quality
vermiform appendix	UBERON:0001154	91.06	gold quality
granulocyte	CL:0000094	90.94	gold quality
gingiva	UBERON:0001828	90.67	gold quality
oral cavity	UBERON:0000167	90.56	gold quality
gingival epithelium	UBERON:0001949	90.56	gold quality
superficial temporal artery	UBERON:0001614	90.45	gold quality
periodontal ligament	UBERON:0008266	90.19	gold quality
lower esophagus mucosa	UBERON:0035834	90.16	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.98	gold quality
colonic mucosa	UBERON:0000317	89.69	gold quality
caecum	UBERON:0001153	89.63	gold quality
tonsil	UBERON:0002372	89.63	gold quality
epithelium of esophagus	UBERON:0001976	88.99	gold quality
esophagus squamous epithelium	UBERON:0006920	88.89	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.87	gold quality
spleen	UBERON:0002106	88.58	gold quality
placenta	UBERON:0001987	88.54	gold quality
upper leg skin	UBERON:0004262	88.45	gold quality
cerebellar vermis	UBERON:0004720	88.31	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

98 targeting CRLF3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-202-5P	99.78	67.65	991

Literature-anchored findings (GeneRIF, showing 4)

• p48.2 may represent a novel type of intracellular protein functioning as a negative regulator at the G0/G1 phase. (PMID:19427400)
• Suggests that the homologous rat protein is involved in neuronal morphology regulation. (PMID:228748)
• Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis. (PMID:34233200)
• A common single nucleotide variant in the cytokine receptor-like factor-3 (CRLF3) gene causes neuronal deficits in human and mouse cells. (PMID:37712888)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	crlf3	ENSDARG00000070261
mus_musculus	Crlf3	ENSMUSG00000017561
rattus_norvegicus	Crlf3	ENSRNOG00000050657
drosophila_melanogaster	elg1	FBGN0036574

Paralogs (1): ATAD5 (ENSG00000176208)

Protein

Protein identifiers

Cytokine receptor-like factor 3 — Q8IUI8 (reviewed: Q8IUI8)

Alternative names: Cytokine receptor-like molecule 9, Cytokine receptor-related protein 4, Type I cytokine receptor-like factor p48

All UniProt accessions (3): Q8IUI8, J3KST8, J3QLS9

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in the negative regulation of cell cycle progression.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in several embryonic and adult tissues, including adult and fetal brain, liver, spleen and pancreas. Expressed in adult, but not fetal kidney. Expressed in skin and squamous cell carcinoma (SCC) and in several other cancer types. Also detected in lesion actinic keratosis (AK).

Similarity. Belongs to the cytokine receptor-like factor 3 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IUI8-1	1, p48.6	yes
Q8IUI8-2	2, p48.2

RefSeq proteins (1): NP_057070* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003961	FN3_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily

UniProt features (10 total): sequence conflict 3, sequence variant 2, chain 1, domain 1, coiled-coil region 1, splice variant 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IUI8-F1	90.15	0.72

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 255 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, MODULE_169, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_GROWTH, MODULE_493, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY_VIA_JAK_STAT, chr17q11, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE, WTGAAAT_UNKNOWN, GOBP_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_CELL_CYCLE_G1_S_PHASE_TRANSITION

GO Biological Process (5): negative regulation of cell growth (GO:0030308), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of receptor signaling pathway via JAK-STAT (GO:0046427), negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)

GO Molecular Function (3): DNA binding (GO:0003677), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of cell growth	1
cell growth	1
negative regulation of growth	1
negative regulation of cellular process	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
cell surface receptor signaling pathway via JAK-STAT	1
regulation of receptor signaling pathway via JAK-STAT	1
positive regulation of receptor signaling pathway via STAT	1
G1/S transition of mitotic cell cycle	1
negative regulation of mitotic cell cycle phase transition	1
negative regulation of cell cycle G1/S phase transition	1
regulation of G1/S transition of mitotic cell cycle	1
nucleic acid binding	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

576 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CRLF3	UTP6	Q9NYH9	793
CRLF3	LRRC37B	Q96QE4	723
CRLF3	ADAP2	Q9NPF8	707
CRLF3	TEFM	Q96QE5	702
CRLF3	COPRS	Q9NQ92	693
CRLF3	ATAD5	Q96QE3	625
CRLF3	RAB11FIP4	Q86YS3	614
CRLF3	EVI2A	P22794	611
CRLF3	EVI2B	P34910	599
CRLF3	RNF135	Q8IUD6	577
CRLF3	EPOR	P19235	543
CRLF3	GATD3	P0DPI2	526
CRLF3	EPO	P01588	513
CRLF3	OMG	P23515	507
CRLF3	ZNF207	O43670	497

IntAct

148 interactions, top by confidence:

A	B	Type	Score
MOB1B	LATS1	psi-mi:“MI:0914”(association)	0.840
VPS25	CRLF3	psi-mi:“MI:0915”(physical association)	0.780
CRLF3	VPS25	psi-mi:“MI:0915”(physical association)	0.780
DOCK8	LRCH2	psi-mi:“MI:0914”(association)	0.740
LGALS14	CRLF3	psi-mi:“MI:0915”(physical association)	0.720
CRLF3	LGALS14	psi-mi:“MI:0915”(physical association)	0.720
CRLF3	CRLF3	psi-mi:“MI:0915”(physical association)	0.670
MOB1A	LATS1	psi-mi:“MI:0914”(association)	0.670
ENPP6	SCAMP1	psi-mi:“MI:0914”(association)	0.640
RBM14	CRLF3	psi-mi:“MI:0915”(physical association)	0.560
CRLF3	RBM14	psi-mi:“MI:0915”(physical association)	0.560
CRLF3	DDIT4L	psi-mi:“MI:0915”(physical association)	0.560
KCTD21	CRLF3	psi-mi:“MI:0915”(physical association)	0.560
ZFP1	CRLF3	psi-mi:“MI:0915”(physical association)	0.560
CRLF3	L3MBTL3	psi-mi:“MI:0915”(physical association)	0.560
CRLF3	MYOZ3	psi-mi:“MI:0915”(physical association)	0.560
CRLF3	DMWD	psi-mi:“MI:0915”(physical association)	0.560
CRLF3		psi-mi:“MI:0915”(physical association)	0.560

BioGRID (52): CRLF3 (Two-hybrid), LGALS14 (Two-hybrid), VPS25 (Two-hybrid), CRLF3 (Affinity Capture-MS), CRLF3 (Two-hybrid), CRLF3 (Affinity Capture-MS), CRLF3 (Affinity Capture-MS), CRLF3 (Affinity Capture-MS), CRLF3 (Affinity Capture-RNA), CRLF3 (Two-hybrid), CRLF3 (Two-hybrid), CRLF3 (Two-hybrid), CRLF3 (Two-hybrid), CRLF3 (Two-hybrid), CRLF3 (Two-hybrid)

ESM2 similar proteins: A6QNX3, B2GV77, P09851, P20936, P50904, P61970, P61971, P61972, Q1JP79, Q29425, Q2KI42, Q2KIW0, Q2TBL9, Q32KP9, Q3UNA4, Q4R4K5, Q4R5H6, Q5E9J4, Q5F415, Q5FVJ7, Q5R8G4, Q5R8I6, Q5RB36, Q5RES2, Q5RKN4, Q5ZLH0, Q6PC62, Q8BG32, Q8BUH1, Q8IUI8, Q8K0F1, Q8MJJ1, Q92747, Q93034, Q99PD4, Q9CQC8, Q9CZQ9, Q9D5V5, Q9DAI2, Q9ES56

Diamond homologs: Q568M3, Q7ZX59, Q8IUI8, Q9Z2L7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

53 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	44
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3237178	GRCh37/hg19 17q11.2(chr17:29000019-30416429)	Pathogenic
4526736	NC_000017.11:g.30765058_31971581del	Pathogenic

SpliceAI

1400 predictions. Top by Δscore:

Variant	Effect	Δscore
17:30785913:TCTTA:T	donor_loss	1.0000
17:30785914:CTTA:C	donor_loss	1.0000
17:30785915:TTA:T	donor_loss	1.0000
17:30785916:TACC:T	donor_loss	1.0000
17:30785917:A:AC	donor_gain	1.0000
17:30785917:AC:A	donor_gain	1.0000
17:30785917:ACC:A	donor_loss	1.0000
17:30785918:C:CC	donor_gain	1.0000
17:30785918:C:CG	donor_loss	1.0000
17:30785918:CC:C	donor_gain	1.0000
17:30785918:CCA:C	donor_gain	1.0000
17:30785918:CCAT:C	donor_gain	1.0000
17:30786027:CAACT:C	acceptor_gain	1.0000
17:30786028:AACT:A	acceptor_gain	1.0000
17:30786029:ACT:A	acceptor_gain	1.0000
17:30786030:CT:C	acceptor_gain	1.0000
17:30786030:CTC:C	acceptor_gain	1.0000
17:30786031:TCT:T	acceptor_gain	1.0000
17:30786032:C:CC	acceptor_gain	1.0000
17:30786032:C:G	acceptor_gain	1.0000
17:30786032:C:T	acceptor_loss	1.0000
17:30786033:T:A	acceptor_loss	1.0000
17:30786038:A:AC	acceptor_gain	1.0000
17:30792579:C:CT	acceptor_gain	1.0000
17:30793477:T:C	donor_gain	1.0000
17:30796156:ATACC:A	donor_loss	1.0000
17:30796157:TA:T	donor_loss	1.0000
17:30796159:C:CT	donor_loss	1.0000
17:30796289:C:CC	acceptor_gain	1.0000
17:30797306:TTTA:T	donor_loss	1.0000

AlphaMissense

2881 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:30784207:A:G	W437R	1.000
17:30784207:A:T	W437R	1.000
17:30784267:A:G	W417R	1.000
17:30784267:A:T	W417R	1.000
17:30784299:A:T	I406K	1.000
17:30784377:A:T	V380D	1.000
17:30784404:A:G	L371S	1.000
17:30784431:A:T	V362D	1.000
17:30784437:A:T	V360D	1.000
17:30784443:C:T	G358D	1.000
17:30785990:C:T	G334E	1.000
17:30792521:G:T	A293E	1.000
17:30792568:C:A	W277C	1.000
17:30792568:C:G	W277C	1.000
17:30792569:C:G	W277S	1.000
17:30792570:A:G	W277R	1.000
17:30792570:A:T	W277R	1.000
17:30793487:A:C	S263R	1.000
17:30793487:A:T	S263R	1.000
17:30793489:T:G	S263R	1.000
17:30793501:A:G	W259R	1.000
17:30793501:A:T	W259R	1.000
17:30796168:A:G	W199R	1.000
17:30796168:A:T	W199R	1.000
17:30784228:A:G	C430R	0.999
17:30784230:C:T	G429E	0.999
17:30784265:C:A	W417C	0.999
17:30784265:C:G	W417C	0.999
17:30784275:A:T	V414D	0.999
17:30784278:A:T	V413E	0.999

dbSNP variants (sampled 300 via entrez): RS1000000348 (17:30791795 T>C), RS1000078089 (17:30810286 A>C), RS1000213657 (17:30801651 A>G), RS1000219823 (17:30791927 A>G), RS1000289677 (17:30807929 C>A,T), RS1000342430 (17:30807730 G>A), RS1000477483 (17:30813668 A>G), RS1000505316 (17:30821151 C>A), RS1000544417 (17:30801923 G>A,C), RS1000578109 (17:30783840 T>A), RS1000599655 (17:30820809 G>A,C,T), RS1000635877 (17:30807486 G>C), RS1000832417 (17:30787337 A>T), RS1000907765 (17:30791920 C>T), RS1000960326 (17:30800750 G>A)

Disease associations

OMIM: gene MIM:614853 | disease phenotypes: MIM:162210, MIM:193520, MIM:601321, MIM:162200

GenCC curated gene-disease

Mondo (4): neurofibromatosis, familial spinal (MONDO:0008078), Watson syndrome (MONDO:0008672), neurofibromatosis-Noonan syndrome (MONDO:0011035), neurofibromatosis type 1 (MONDO:0018975)

Orphanet (3): Neurofibromatosis type 1 (Orphanet:636), Neurofibromatosis-Noonan syndrome (Orphanet:638), Watson syndrome (Orphanet:3444)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000175_4	Height	2.000000e-09
GCST005146_28	Birth weight	2.000000e-09
GCST005993_14	Mean corpuscular hemoglobin	6.000000e-10
GCST007692_40	Chronic obstructive pulmonary disease	7.000000e-08
GCST008163_349	Height	4.000000e-08
GCST011739_8	Cutaneous leishmaniasis	5.000000e-06
GCST90002389_225	Lymphocyte percentage of white cells	3.000000e-12
GCST90002401_586	Platelet distribution width	1.000000e-24
GCST90020028_1413	Hip circumference adjusted for BMI	4.000000e-08
GCST90020028_1414	Hip circumference adjusted for BMI	4.000000e-15
GCST90020029_480	Waist circumference adjusted for body mass index	9.000000e-11
GCST90020029_481	Waist circumference adjusted for body mass index	5.000000e-11

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004344	birth weight
EFO:0004527	mean corpuscular hemoglobin
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007984	platelet component distribution width
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D009456	Neurofibromatosis 1	C04.557.580.600.580.590.650; C04.700.631.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.633.650
C563523	Neurofibromatosis, Familial Spinal (supp.)
C537393	Neurofibromatosis-Noonan syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	3
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
testosterone undecanoate	affects cotreatment, decreases expression	1
sodium arsenite	decreases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
beta-methylcholine	affects expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Air Pollutants	decreases expression, increases abundance	1
Drugs, Chinese Herbal	increases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Phthalic Acids	increases methylation	1
Quercetin	decreases expression	1
Silicon Dioxide	increases expression	1
Dronabinol	decreases expression	1
Tretinoin	increases expression	1
Urethane	increases expression	1
Vanadates	decreases expression	1
Cyclosporine	increases expression	1
Levonorgestrel	affects cotreatment, decreases expression	1
Antirheumatic Agents	decreases expression	1
Zinc Sulfate	decreases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	increases abundance, decreases expression	1

Clinical trials (associated diseases)

182 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00169611	PHASE4	COMPLETED	NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate
NCT03975829	PHASE4	RECRUITING	Pediatric Long-Term Follow-up and Rollover Study
NCT02471339	PHASE3	COMPLETED	Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain
NCT03871257	PHASE3	ACTIVE_NOT_RECRUITING	A Study of the Drugs Selumetinib Versus Carboplatin/Vincristine in Patients With Neurofibromatosis and Low-Grade Glioma
NCT04461886	PHASE3	TERMINATED	A Long-term Study of NPC-12G Gel in Neurofibromatosis Type I
NCT04924608	PHASE3	ACTIVE_NOT_RECRUITING	Efficacy and Safety of Selumetinib in Adults With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas
NCT05913037	PHASE3	ACTIVE_NOT_RECRUITING	FCN-159 in Adult Patients With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas
NCT00021541	PHASE2	COMPLETED	R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas
NCT00030264	PHASE2	COMPLETED	Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas
NCT00076102	PHASE2	COMPLETED	Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas
NCT00304083	PHASE2	COMPLETED	Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors
NCT00326872	PHASE2	TERMINATED	AZD2171 in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibroma and/or Neurofibroma Near the Spine
NCT00589784	PHASE2	COMPLETED	Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma
NCT00634270	PHASE2	COMPLETED	A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas
NCT00754780	PHASE2	COMPLETED	Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1
NCT00846430	PHASE2	COMPLETED	Medical Treatment of High-Risk Neurofibromas
NCT00853580	PHASE2	COMPLETED	A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1
NCT01125046	PHASE2	COMPLETED	Bevacizumab in Treating Patients With Recurrent or Progressive Meningiomas
NCT01402817	PHASE2	TERMINATED	Study of Sutent®/Sunitinib (SU11248) in Subjects With NF-1 Plexiform Neurofibromas
NCT01412892	PHASE2	COMPLETED	Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas
NCT01553149	PHASE2	COMPLETED	Low-Dose or High-Dose Lenalidomide in Treating Younger Patients With Recurrent, Refractory, or Progressive Pilocytic Astrocytoma or Optic Pathway Glioma
NCT01673009	PHASE2	COMPLETED	Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas
NCT01968590	PHASE2	TERMINATED	Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1)
NCT02096471	PHASE2	COMPLETED	MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1
NCT02101736	PHASE2	COMPLETED	Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults
NCT02332902	PHASE2	COMPLETED	Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T
NCT02407405	PHASE2	ACTIVE_NOT_RECRUITING	MEK 1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas
NCT02728388	PHASE2	RECRUITING	Photodynamic Therapy for Benign Dermal Neurofibromas- Phase II
NCT02839720	PHASE2	COMPLETED	Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma
NCT02964884	PHASE2	ACTIVE_NOT_RECRUITING	Interventions for Reading Disabilities in NF1
NCT03090971	PHASE2	COMPLETED	Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1
NCT03109301	PHASE2	WITHDRAWN	Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST)
NCT03190915	PHASE2	ACTIVE_NOT_RECRUITING	Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia
NCT03231306	PHASE2	COMPLETED	Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas
NCT03433183	PHASE2	COMPLETED	SARC031: MEK Inhibitor Selumetinib (AZD6244) in Combination With the mTOR Inhibitor Sirolimus for Patients With Malignant Peripheral Nerve Sheath Tumors
NCT03741101	PHASE2	UNKNOWN	Treatment of NF1-related Plexiform Neurofibroma With Trametinib
NCT03962543	PHASE2	ACTIVE_NOT_RECRUITING	MEK Inhibitor Mirdametinib (PD-0325901) in Patients With Neurofibromatosis Type 1 Associated Plexiform Neurofibromas
NCT04435665	PHASE2	COMPLETED	NFX-179 Topical Gel Treatment in Adults With Neurofibromatosis 1 (NF1) and Cutaneous Neurofibromas (cNF)
NCT04481035	PHASE2	COMPLETED	Antioxidant Therapy With N-acetylcysteine for Learning and Motor Behavior in Children With Neurofibromatosis Type 1
NCT04481048	PHASE2	ACTIVE_NOT_RECRUITING	Antioxidant Therapy With N-acetylcysteine for Children With Neurofibromatosis Type 1