RecruitingPhase 1 / Phase 2NCT05849662
Neurological
Neurofibromatosis Type 1
Also known as NF1, von Recklinghausen disease, peripheral neurofibromatosis, NF1 haploinsufficiency
Neurofibromatosis type 1 (NF1) is one of the most common single-gene neurological disorders, caused by mutations in the NF1 tumor suppressor gene encoding neurofibromin, a Ras-GTPase activating protein. Clinical features include cafe-au-lai
39
studies recruiting now
as of 7 Sept 2026
269
studies registered in total
as of 7 Sept 2026
3
countries with a recruiting site
as of 7 Sept 2026
24 Jan 2024
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 3NCT04166409
A Study of the Drugs Selumetinib vs. Carboplatin and Vincristine in Patients With Low-Grade Glioma
RecruitingNCT06222203
Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)
RecruitingPhase 2NCT04374305
Innovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2)
RecruitingNCT02544022
Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs)
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 39 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is one of the most common single-gene neurological disorders, caused by mutations in the NF1 tumor suppressor gene encoding neurofibromin, a Ras-GTPase activating protein. Clinical features include cafe-au-lait macules, cutaneous and plexiform neurofibromas, Lisch nodules (iris hamartomas), optic pathway gliomas, and learning disabilities. Malignant peripheral nerve sheath tumors (MPNSTs) are a serious complication. Selumetinib (Koselugo) is approved for plexiform neurofibromas.
Common clinical features
Cafe-au-lait macules (6 or more)Cutaneous and plexiform neurofibromasLisch nodulesOptic pathway gliomaLearning disabilitiesFreckling in axilla/groinSkeletal abnormalities
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
3 approved treatments and 18 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Selumetinib Sulfate (Koselugo)Approved: MirdametinibApproved: Selumetinib
Phase 2/3Lamotrigine (Lamictal)
Phase 2Peginterferon Alfa-2b (Peg-intron)
Phase 2Sirolimus (Fyarro)
Phase 2Vincristine Sulfate (Leurocristine sulfate)
Phase 2Acetylcysteine (A-cys)
Phase 2Pirfenidone (Esbriet)
Phase 2Everolimus (Afinitor)
Phase 2Nedometinib
+ 10 more in development
Before you apply
Things trial teams commonly ask about for Neurofibromatosis Type 1. Not eligibility rules; those are set by each study.
- Selumetinib (Koselugo) is approved for plexiform neurofibromas — prior MEK inhibitor therapy must be disclosed for trial eligibility
- Tumor volumetric MRI measurement of target plexiform neurofibromas is the standard eligibility and efficacy endpoint
- Optic glioma trials require ophthalmological assessment including visual acuity and visual field testing at baseline
- NF1 genotype class (truncating vs. missense vs. whole-gene deletion) can affect phenotype severity and should be documented
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).