Disease · MONDO_0018975

neurofibromatosis type 1

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. neurofibromatosis type 1. Diseases, record MONDO_0018975. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0018975

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Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: neurofibromatosis type 1; Open Targets
Open Targets ID: MONDO_0018975; Open Targets
Other names: Acoustic neurofibromatosis, NF1, Neurofibromatosis (morphologic abnormality), Neurofibromatosis 1, Neurofibromatosis syndrome (disorder), Nf1-Microdeletion syndrome, Recklinghausen's neurofibromatosis, central Neurofibromatosis, neurofibromatosis, neurofibromatosis type 2, neurofibromatosis type 4, neurofibromatosis type IV, neurofibromatosis type i, nonmosaic NF1, nonmosaic neurofibromatosis type 1, peripheral neurofibromatosis, type IV neurofibromatosis of riccardi, von Reklinghausen disease; Open Targets
Disease Ontology: DOID:0111253; Disease Ontology
MeSH: C538607; MeSH
MeSH: D009456; MeSH
NCI Thesaurus: C3273; NCI Thesaurus
Orphanet: ORPHA:636; Orphanet
Highest stage of its drugs: Approval, for 3 of its 39 drugs, from ClinicalTrials.gov, EMA Human Drugs, FDA, PMDA and TTD; Open Targets

Drugs39

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
SELUMETINIB	CHEMBL1614701	Small molecule	Approval	ClinicalTrials.gov, EMA Human Drugs and TTD	16	14	14	Drugs and targets
MIRDAMETINIB	CHEMBL507361	Small molecule	Approval	EMA Human Drugs	2	1	1	Drugs and targets
SELUMETINIB SULFATE	CHEMBL2105684	Small molecule	Approval	FDA and PMDA	2	0	0	Drugs and targets
SIROLIMUS	CHEMBL413	Small molecule	Phase 3	ClinicalTrials.gov	3	3	3	Drugs and targets
LAMOTRIGINE	CHEMBL741	Small molecule	Phase 2/3	ClinicalTrials.gov	1	1	1	Drugs and targets
EVEROLIMUS	CHEMBL1908360	Small molecule	Phase 2	ClinicalTrials.gov	3	3	3	Drugs and targets
IMATINIB MESYLATE	CHEMBL1642	Small molecule	Phase 2	ClinicalTrials.gov	3	3	3	Drugs and targets
LOVASTATIN	CHEMBL503	Small molecule	Phase 2	ClinicalTrials.gov	3	3	3	Drugs and targets
LUVOMETINIB	CHEMBL6068059	Small molecule	Phase 2	ClinicalTrials.gov	3	3	3	Drugs and targets
ACETYLCYSTEINE	CHEMBL600	Small molecule	Phase 2	ClinicalTrials.gov	2	2	1	Drugs and targets

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Targets61

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
KDR	Vascular endothelial growth factor receptor	4	Vascular endothelial growth factor receptor 2 inhibitor; Vascular endothelial growth factor receptor inhibitor	Phase 2	https://conductscience.org/library/genes/3791	Drugs and targets
KIT	Mast/stem cell growth factor receptor Kit	4	Stem cell growth factor receptor inhibitor	Phase 2	https://conductscience.org/library/genes/3815	Drugs and targets
MAP2K1	Dual specificity mitogen-activated protein kinase kinase 1	4	Dual specificity mitogen-activated protein kinase kinase 1 inhibitor	Approval	https://conductscience.org/library/genes/5604	Drugs and targets
MAP2K2	Dual specificity mitogen-activated protein kinase kinase 2	4	Dual specificity mitogen-activated protein kinase kinase 2 inhibitor	Approval	https://conductscience.org/library/genes/5605	Drugs and targets
FLT1	Vascular endothelial growth factor receptor	3	Vascular endothelial growth factor receptor 1 inhibitor; Vascular endothelial growth factor receptor inhibitor	Phase 2	https://conductscience.org/library/genes/2321	Drugs and targets
FLT3	Receptor-type tyrosine-protein kinase FLT3	3	Tyrosine-protein kinase receptor FLT3 inhibitor	Phase 2	https://conductscience.org/library/genes/2322	Drugs and targets
FLT4	Vascular endothelial growth factor receptor	3	Vascular endothelial growth factor receptor 3 inhibitor; Vascular endothelial growth factor receptor inhibitor	Phase 2	https://conductscience.org/library/genes/2324	Drugs and targets
PDGFRB	Platelet-derived growth factor receptor	3	Platelet-derived growth factor receptor beta inhibitor; Platelet-derived growth factor receptor inhibitor	Phase 2	https://conductscience.org/library/genes/5159	Drugs and targets
ABL1	Bcr/Abl fusion protein	2	Bcr/Abl fusion protein inhibitor; Tyrosine-protein kinase ABL inhibitor	Phase 2	https://conductscience.org/library/genes/25	Drugs and targets
BCR	Bcr/Abl fusion protein	2	Bcr/Abl fusion protein inhibitor	Phase 2	https://conductscience.org/library/genes/613	Drugs and targets

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Trials61

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 1 more is not shown, since the checks do not confirm it.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT00853580	A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1	Phase 2	146	2018-03-12	Neurofibromatosis Type 1	LOVASTATIN	Its record names the disease	ClinicalTrials.gov
NCT04924608	Efficacy and Safety of Selumetinib in Adults With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas	Phase 3	145	2025-10-20	Neurofibromatosis 1, Plexiform Neurofibroma (PN)	SELUMETINIB	Its record names the disease	ClinicalTrials.gov
NCT02285439	Study of MEK162 for Children With Low-Grade Gliomas	Phase 1/2	105	2025-10-07	Low-Grade Gliomas, Malignant Neoplasms, Brain, Soft Tissue Neoplasms	BINIMETINIB	Its record names the disease	ClinicalTrials.gov
NCT00396019	Study of PEG-Intron for Plexiform Neurofibromas	Phase 2	86	2017-11-06	Plexiform Neurofibroma	PEGINTERFERON ALFA-2B	Its record names the disease	ClinicalTrials.gov
NCT00021541	R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas	Phase 2	62	2012-09-17	Neurofibroma, Plexiform, Neurofibromatosis Type I	TIPIFARNIB	Its record names the disease	ClinicalTrials.gov
NCT02101736	Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults	Phase 2	45	2023-05-24	NF1, Neurofibromatosis, Plexiform Neurofibromas	CABOZANTINIB	Its record names the disease	ClinicalTrials.gov
NCT03231306	Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas	Phase 2	45	2025-05-02	Neurofibromatosis Type 1, Plexiform Neurofibroma	BINIMETINIB	Its record names the disease	ClinicalTrials.gov
NCT00076102	Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas	Phase 2	36	2012-07-12	Neurofibromatosis 1, Neurofibroma, Plexiform	PIRFENIDONE	Its record names the disease	ClinicalTrials.gov
NCT01673009	Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas	Phase 2	36	2016-04-06	Neurofibromatosis	IMATINIB MESYLATE	Its record names the disease	ClinicalTrials.gov
NCT05309668	Pharmacokinetics, Safety and Efficacy of the Selumetinib Granule Formulation in Children Aged ≥1 to <7 Years With NF1-related Symptomatic, Inoperable PN	Phase 1/2	36	2025-05-14	Neurofibromatosis Type 1	SELUMETINIB	Its record names the disease	ClinicalTrials.gov

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Comparisons in its trials12

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Selumetinib 25 mg/m2 vs Placebo: deaths from any cause	0 of 71	0 of 74	145	NCT04924608	Trial comparisons
Selumetinib 25 mg/m2 vs Placebo: serious adverse events	10 of 71	9 of 74	145	NCT04924608	Trial comparisons
Lovastatin vs Placebo: deaths from any cause	0 of 74	0 of 70	144	NCT00853580	Trial comparisons
Lovastatin vs Placebo: serious adverse events	6 of 74	1 of 70	144	NCT00853580	Trial comparisons
Phase II Stratum 1 vs Phase II Stratum 2: Best Overall Response Rate (Strata 1 and 2)	15 of 27	12 of 21	48	NCT02285439	Trial comparisons
Cohort A vs Cohort B: Number of Participants With Adverse Events	20 of 23	21 of 22	45	NCT02101736	Trial comparisons
Cohort A vs Cohort B: deaths from any cause	0 of 23	0 of 22	45	NCT02101736	Trial comparisons
Cohort A vs Cohort B: serious adverse events	2 of 23	5 of 22	45	NCT02101736	Trial comparisons
Lapatinib vs Control: Assess the Level of ErbB2 Phosphorylation in VS.	5 of 9	2 of 4	13	NCT00863122	Trial comparisons
N-Acetylcysteine Treatment vs Placebo: deaths from any cause	0 of 5	0 of 5	10	NCT04481035	Trial comparisons

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Papers from its trials48

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
34541874	RESULT	2	PubMed
33863389	RESULT	2	PubMed
33354735	RESULT	2	PubMed
32187457	RESULT	3	PubMed
31582003	RESULT	2	PubMed
31010905	RESULT	2	PubMed
30284154	RESULT	1	PubMed
29718344	RESULT	1	PubMed
28409229	RESULT	2	PubMed
28230061	RESULT	2	PubMed

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Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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The record and each of its lists are JSON, twenty rows a page. No key.

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GET https://conductscience.org/api/diseases/v1/MONDO_0018975/drugs?page=2

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