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Brown. Rare Dis Orphan Drugs J. 2025;4:21 https://dx.doi.org/10.20517/rdodj.2025.14 Page 9 of 15

Table 1. Clinical trials of cutaneous neurofibroma from https://ClinicalTrials.gov/
Trial number Study title Status Intervention Mechanism
NCT06300502 Assessing the efficacy of repeat, monthly NOT YET Kybella or Asclera injection with 1064 Destructive
treatments of cutaneous neurofibromas (cNFs) RECRUITING nm Nd:YAG laser or 755 nm
alexandrite laser
NCT06159166 Mirdametinib monotherapy in adults with RECRUITING Oral mirdametinib MEK inhibition
neurofibromatosis 1 (NF1) and cNF
NCT02728388 Photodynamic therapy for benign dermal RECRUITING Topical aminolevulinic acid Destructive
neurofibromas- phase II
NCT06132165 Efficacy of skin cooling in reducing pain associated RECRUITING Deoxycholic acid or polidocanol Destructive
with non-invasive treatments of neurofibromatosis injection with 1064 nm Nd:YAG laser
type 1 cutaneous neurofibromas or 755 nm alexandrite laser
NCT05438290 DPCP to treat cutaneous neurofibromas associated COMPLETED Topical Diphencyprone Immunotherapy
with NF1
NCT04730583 Tolerability of device based therapies for COMPLETED Kybella injection with 1064 nm Destructive
neurofibromatosis type 1 cutaneous neurofibromas Nd:YAG laser or 755 nm alexandrite
laser
NCT05119582 HIFU treatment of cutaneous neurofibromas in COMPLETED TOOsonix system ONE-M device Destructive
neurofibromatosis type 1: safety and efficacy
NCT05005845 NFX-179 topical gel treatment for adults with NF1 COMPLETED Topical NFX-179 gel MEK inhibition
and cNF
NCT04435665 NFX-179 topical gel treatment in adults with NF1 COMPLETED Topical NFX-179 Gel MEK inhibition
and cNF
NCT03090971 Use of topical liquid diclofenac following laser COMPLETED Laser microporation device and Prostaglandin
microporation of cutaneous neurofibromas in topical diclofenac sodium inhibition
patients with NF1
NCT00865644 Topical imiquimod 5% cream for treatment of COMPLETED Topical imiquimod 5% cream Immunotherapy
cutaneous neurofibromas in adults with
neurofibromatosis 1
NCT00657202 Ranibizumab for neurofibromas associated with COMPLETED Oral ranibizumab VEGF inhibitor
neurofibromatosis 1
NCT01031901 Topical rapamycin therapy to alleviate cutaneous COMPLETED Topical sirolimus or rapamycin mTOR inhibition
manifestations of tuberous sclerosis complex
(TSC) and NF1
NCT02839720 Selumetinib in treating patients with COMPLETED Oral selumetinib sulfate MEK inhibition
neurofibromatosis type 1 and cutaneous
neurofibroma
NCT01682811 Phase I photodynamic therapy (PDT) for benign COMPLETED Levulan injection or topical, with or Destructive
dermal NF1 without microneedling, with
photodynamic therapy
NCT06120036 Dosing and Tolerability of deoxycholic acid vs. COMPLETED Kybella injection, or Asclera injection Destructive
polidocanol in the treatment of neurofibromatosis
type 1 cutaneous neurofibromas
NCT02332902 Everolimus for treatment of disfiguring cutaneous COMPLETED Oral everolimus mTOR inhibition
lesions in neurofibromatosis 1 CRAD001CUS232T
NCT00921037 First clinical study of erbium - yttrium aluminium UNKNOWN Erbium-YAG laser device Destructive
garnet (YAG) laser vaporization of cutaneous
neurofibromas
VEGF: Vascular endothelial growth factor; mTOR: mammalian target of rapamycin.

three different Mek inhibitors tested within 4 different trials; 2 drugs targeting mTOR, two
immunotherapeutic agents, one prostaglandin inhibitor, and one vascular endothelial growth factor (VEGF)
inhibitor. The remaining trials explore(d) concurrent injectable drugs with laser or photodynamic therapy.
Methods to enhance drug penetration into CNs included laser microporation, microneedling, and direct
intratumoral injection. At the time of writing, two trials were actively recruiting and one had not yet begun
enrollment. None of these approaches had demonstrated a definitive, clinically acceptable reduction in CN
size or number . Several studies have evaluated patient preferences regarding treatment outcomes.
[73]
Unsurprisingly, many patients indicated a willingness to take oral or topical medication over an extended