ABHD15

Summary

ABHD15 (abhydrolase domain containing 15, HGNC:26971) is a protein-coding gene on chromosome 17q11.2, encoding Protein ABHD15 (Q6UXT9). May regulate adipocyte lipolysis and liver lipid accumulation.

Predicted to enable monoacylglycerol lipase activity and short-chain carboxylesterase activity. Predicted to be involved in adipose tissue development and lipid catabolic process. Located in membrane.

Source: NCBI Gene 116236 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 106 total — 3 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_198147

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26971
Approved symbol	ABHD15
Name	abhydrolase domain containing 15
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000168792
Ensembl biotype	protein_coding
OMIM	619894
Entrez	116236

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000307201

RefSeq mRNA: 1 — MANE Select: NM_198147 NM_198147

CCDS: CCDS32602

Canonical transcript exons

ENST00000307201 — 2 exons

Exon	Start	End
ENSE00001177240	29566086	29567037
ENSE00001241422	29560547	29563086

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 85.14.

FANTOM5 (CAGE): breadth broad, TPM avg 2.1693 / max 54.2277, expressed in 835 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165148	2.0575	816
165149	0.1118	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	85.14	gold quality
ileal mucosa	UBERON:0000331	85.07	gold quality
islet of Langerhans	UBERON:0000006	84.92	gold quality
right lobe of liver	UBERON:0001114	84.21	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.03	gold quality
mucosa of transverse colon	UBERON:0004991	83.16	gold quality
adipose tissue	UBERON:0001013	80.78	gold quality
liver	UBERON:0002107	80.78	gold quality
subcutaneous adipose tissue	UBERON:0002190	80.78	gold quality
adipose tissue of abdominal region	UBERON:0007808	80.55	gold quality
omental fat pad	UBERON:0010414	80.54	gold quality
peritoneum	UBERON:0002358	80.44	gold quality
small intestine Peyer’s patch	UBERON:0003454	79.22	gold quality
leukocyte	CL:0000738	78.86	gold quality
stromal cell of endometrium	CL:0002255	78.77	gold quality
pancreas	UBERON:0001264	78.39	gold quality
monocyte	CL:0000576	78.34	gold quality
small intestine	UBERON:0002108	77.79	gold quality
spleen	UBERON:0002106	77.66	gold quality
apex of heart	UBERON:0002098	77.64	gold quality
transverse colon	UBERON:0001157	77.54	gold quality
tibial nerve	UBERON:0001323	77.54	gold quality
rectum	UBERON:0001052	76.59	gold quality
pituitary gland	UBERON:0000007	76.55	gold quality
adenohypophysis	UBERON:0002196	76.50	gold quality
body of stomach	UBERON:0001161	76.34	gold quality
body of pancreas	UBERON:0001150	76.28	gold quality
blood	UBERON:0000178	76.01	gold quality
descending thoracic aorta	UBERON:0002345	75.84	gold quality
vermiform appendix	UBERON:0001154	75.64	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	25.84
E-MTAB-8498	yes	12.68
E-GEOD-110499	no	377.17
E-CURD-10	no	177.99
E-ANND-3	no	3.58
E-CURD-112	no	3.05

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

86 targeting ABHD15, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703

Literature-anchored findings (GeneRIF, showing 2)

• ABHD15 associates with and stabilizes phosphodiesterase 3B (PDE3B). (PMID:29768196)
• ABHD15 promotes cell viability, glycolysis, and inhibits apoptosis in cardiomyocytes under hypoxia. (PMID:33257193)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Abhd15	ENSMUSG00000000686
rattus_norvegicus	Abhd15	ENSRNOG00000015002

Paralogs (3): ABHD2 (ENSG00000140526), ABHD1 (ENSG00000143994), ABHD3 (ENSG00000158201)

Protein

Protein identifiers

Protein ABHD15 — Q6UXT9 (reviewed: Q6UXT9)

Alternative names: Alpha/beta hydrolase domain-containing protein 15

All UniProt accessions (1): Q6UXT9

UniProt curated annotations — full annotation on UniProt →

Function. May regulate adipocyte lipolysis and liver lipid accumulation.

Subunit / interactions. Interacts with PDE3B; this interaction regulates PDE3B’s stability and expression and, thereby, impacts the antilipolytic action of insulin.

Subcellular location. Secreted.

Similarity. Belongs to the AB hydrolase superfamily. AB hydrolase 4 family.

RefSeq proteins (1): NP_937790* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029058	AB_hydrolase_fold	Homologous_superfamily
IPR050960	AB_hydrolase_4_sf	Family

UniProt features (8 total): active site 2, signal peptide 1, chain 1, region of interest 1, modified residue 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UXT9-F1	79.70	0.59

Functional residue map

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

Catalytic / active sites (2): 360 (charge relay system); 391 (charge relay system)

Post-translational modifications (1): 434

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 127 (showing top): chr17q11, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_LIPID_METABOLIC_PROCESS, MYB_Q3, LEF1_Q6, GOBP_CONNECTIVE_TISSUE_DEVELOPMENT, GOBP_LIPID_CATABOLIC_PROCESS, ACEVEDO_LIVER_CANCER_UP, GOBP_ADIPOSE_TISSUE_DEVELOPMENT, YGCGYRCGC_UNKNOWN, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, MYB_Q6, GOMF_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY, SENGUPTA_EBNA1_ANTICORRELATED

GO Biological Process (3): lipid metabolic process (GO:0006629), lipid catabolic process (GO:0016042), adipose tissue development (GO:0060612)

GO Molecular Function (3): short-chain carboxylesterase activity (GO:0034338), monoacylglycerol lipase activity (GO:0047372), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
carboxylic ester hydrolase activity	2
cellular anatomical structure	2
primary metabolic process	1
lipid metabolic process	1
catabolic process	1
animal organ development	1
connective tissue development	1
lipase activity	1
binding	1

Protein interactions and networks

STRING

416 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABHD15	PDE3B	Q13370	718
ABHD15	ABHD16B	Q9H3Z7	571
ABHD15	ABHD5	Q8WTS1	551
ABHD15	ANKS4B	Q8N8V4	526
ABHD15	ABHD13	Q7L211	508
ABHD15	ABHD14A	Q9BUJ0	501
ABHD15	ABHD8	Q96I13	490
ABHD15	ABHD12B	Q7Z5M8	478
ABHD15	TM4SF4	P48230	473
ABHD15	ABHD4	Q8TB40	471
ABHD15	ABHD18	Q0P651	468
ABHD15	KLHL29	Q96CT2	463
ABHD15	ABHD17A	Q96GS6	462
ABHD15	EPHX4	Q8IUS5	462
ABHD15	ABHD10	Q9NUJ1	461

IntAct

36 interactions, top by confidence:

A	B	Type	Score
AKT1	AKT2	psi-mi:“MI:0914”(association)	0.640
SAT1	ABHD15	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	ABHD15	psi-mi:“MI:0915”(physical association)	0.560
KRT34	ABHD15	psi-mi:“MI:0915”(physical association)	0.560
WTAP	ABHD15	psi-mi:“MI:0915”(physical association)	0.560
VWC2	ABHD15	psi-mi:“MI:0915”(physical association)	0.560
AKT3	HSP90AA1	psi-mi:“MI:0914”(association)	0.560
ABHD15	HSPA8	psi-mi:“MI:0914”(association)	0.530
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
ABHD15	PEX7	psi-mi:“MI:0914”(association)	0.350
PTCH1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
PDE3A	SUN1	psi-mi:“MI:0914”(association)	0.350
NIPAL3	ILVBL	psi-mi:“MI:0914”(association)	0.350
SLC15A3	GXYLT2	psi-mi:“MI:0914”(association)	0.350
SLC27A5	MEIOC	psi-mi:“MI:0914”(association)	0.350
SLC27A6	NBAS	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC9A3	ESYT3	psi-mi:“MI:0914”(association)	0.350
SLC9A4	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SLC9A5	NBAS	psi-mi:“MI:0914”(association)	0.350
CASP3	C11orf98	psi-mi:“MI:0914”(association)	0.350
CTNNA1	EFCAB5	psi-mi:“MI:0914”(association)	0.350
ABHD15	SAT1	psi-mi:“MI:0915”(physical association)	0.000
ABHD15	MTUS2	psi-mi:“MI:0915”(physical association)	0.000
ABHD15	KRT34	psi-mi:“MI:0915”(physical association)	0.000
ABHD15	WTAP	psi-mi:“MI:0915”(physical association)	0.000
ABHD15	VWC2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (39): HSPA8 (Affinity Capture-MS), DNAJB4 (Affinity Capture-MS), STUB1 (Affinity Capture-MS), FKBP5 (Affinity Capture-MS), HSPA2 (Affinity Capture-MS), STIP1 (Affinity Capture-MS), BAG5 (Affinity Capture-MS), HSPA6 (Affinity Capture-MS), ABHD15 (Affinity Capture-RNA), ABHD15 (Two-hybrid), ABHD15 (Two-hybrid), ABHD15 (Two-hybrid), ABHD15 (Two-hybrid), VWC2 (Two-hybrid), HSPA1L (Affinity Capture-MS)

ESM2 similar proteins: A6NGC4, A6NKX4, A6NM10, F1NZP5, O96011, P0C242, P27544, P27545, Q0VCY6, Q2TBI8, Q3SYU3, Q4V8E5, Q5F2F2, Q5JZQ7, Q5RFI0, Q5U2T1, Q5U419, Q6AYM9, Q6GQT6, Q6PIS1, Q6TCG5, Q6UXD7, Q6UXT9, Q71RH2, Q7TNV1, Q7Z403, Q80ZE4, Q863Y8, Q86WI3, Q8BMT9, Q8CHK3, Q8IU68, Q8IXF9, Q8N9H8, Q8TBR7, Q8VC26, Q8WUG5, Q96N66, Q99640, Q99JT6

Diamond homologs: Q5F2F2, Q6UXT9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
VEGFR2 mediated vascular permeability	5	78.4×	1e-06
R-HSA-425393	5	25.0×	4e-05
SLC-mediated transmembrane transport	6	13.7×	6e-05
Cytokine Signaling in Immune system	5	7.8×	2e-03
Transport of small molecules	6	5.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	99
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	Pathogenic
2422714	NC_000017.10:g.(?27573882)(29576157_?)del	Pathogenic
815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	Pathogenic
624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	Likely pathogenic

SpliceAI

195 predictions. Top by Δscore:

Variant	Effect	Δscore
17:29563102:T:C	acceptor_gain	1.0000
17:29563102:T:TC	acceptor_gain	1.0000
17:29563105:G:GC	acceptor_gain	1.0000
17:29566082:CCA:C	donor_loss	1.0000
17:29566084:A:AT	donor_loss	1.0000
17:29566085:C:CT	donor_loss	1.0000
17:29563094:CGAGG:C	acceptor_gain	0.9900
17:29563098:G:C	acceptor_gain	0.9900
17:29563098:G:GC	acceptor_gain	0.9900
17:29563100:G:C	acceptor_gain	0.9900
17:29563105:G:C	acceptor_gain	0.9900
17:29563114:G:C	acceptor_gain	0.9900
17:29566082:CCACC:C	donor_gain	0.9900
17:29566085:CCTG:C	donor_gain	0.9900
17:29563092:A:T	acceptor_gain	0.9800
17:29563100:G:GC	acceptor_gain	0.9800
17:29563114:G:GC	acceptor_gain	0.9800
17:29563101:T:TC	acceptor_gain	0.9700
17:29566084:A:AC	donor_gain	0.9700
17:29566085:C:CC	donor_gain	0.9700
17:29563084:TAC:T	acceptor_gain	0.9600
17:29563383:C:G	acceptor_gain	0.9600
17:29563101:T:C	acceptor_gain	0.9500
17:29563082:CATAC:C	acceptor_gain	0.9400
17:29563283:ACG:A	donor_gain	0.9400
17:29563284:CGC:C	donor_gain	0.9400
17:29563083:ATACC:A	acceptor_gain	0.9300
17:29563084:TACCT:T	acceptor_gain	0.9300
17:29563085:ACCT:A	acceptor_gain	0.9300
17:29563091:C:CT	acceptor_gain	0.9300

AlphaMissense

2978 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:29566262:G:C	S235R	0.999
17:29566262:G:T	S235R	0.999
17:29566264:T:G	S235R	0.999
17:29566401:A:T	V189D	0.997
17:29562786:G:C	F394L	0.995
17:29562786:G:T	F394L	0.995
17:29562788:A:G	F394L	0.995
17:29566205:G:C	S254R	0.995
17:29566205:G:T	S254R	0.995
17:29566207:T:G	S254R	0.995
17:29566263:C:A	S235I	0.995
17:29566311:A:T	V219D	0.995
17:29566323:A:T	L215H	0.994
17:29566557:A:G	L137P	0.994
17:29566191:G:T	A259D	0.993
17:29566302:A:T	I222N	0.993
17:29566315:C:G	A218P	0.993
17:29566224:C:T	G248D	0.991
17:29566231:A:C	Y246D	0.991
17:29566387:G:T	R194S	0.991
17:29566425:G:T	A181D	0.991
17:29566552:A:G	W139R	0.991
17:29566552:A:T	W139R	0.991
17:29566587:A:G	L127P	0.991
17:29562714:G:C	F418L	0.990
17:29562714:G:T	F418L	0.990
17:29562716:A:G	F418L	0.990
17:29562908:A:G	C354R	0.990
17:29566186:A:G	C261R	0.990
17:29566323:A:G	L215P	0.990

dbSNP variants (sampled 300 via entrez): RS1000885200 (17:29565265 AAT>A), RS1001188507 (17:29560980 G>C), RS1001480834 (17:29563415 A>G), RS1001595270 (17:29565508 T>C,G), RS1001938803 (17:29564547 C>G), RS1002601408 (17:29566988 C>A,G,T), RS1002653733 (17:29567203 G>A,C), RS1002695434 (17:29560806 T>C), RS1003208209 (17:29565002 C>G,T), RS1004327168 (17:29568464 A>G), RS1004396932 (17:29564922 C>T), RS1004779995 (17:29568787 T>A), RS1004818589 (17:29562767 G>C), RS1005448224 (17:29565029 G>A), RS1006340046 (17:29560779 T>C)

Disease associations

OMIM: gene MIM:619894 | disease phenotypes: MIM:162200

GenCC curated gene-disease

Mondo (1): neurofibromatosis type 1 (MONDO:0018975)

Orphanet (1): Neurofibromatosis type 1 (Orphanet:636)

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST008163_597	Height	3.000000e-06
GCST010245_96	LDL cholesterol levels	2.000000e-08
GCST010703_115	Brain morphology (MOSTest)	1.000000e-28
GCST012227_404	Hip circumference adjusted for BMI	2.000000e-13
GCST90020025_1435	Waist-to-hip ratio adjusted for BMI	1.000000e-14
GCST90020026_435	Hip index	1.000000e-08
GCST90020027_457	Waist-hip index	2.000000e-14
GCST90020028_1410	Hip circumference adjusted for BMI	2.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (1)

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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects expression, increases expression	5
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
pirinixic acid	increases activity, increases expression, affects binding	1
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
trichostatin A	increases expression	1
arsenite	increases methylation	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Resveratrol	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Vorinostat	increases expression	1
Benzo(a)pyrene	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	increases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Cyclosporine	decreases expression	1

Clinical trials (associated diseases)

181 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