Neurofibromatosis 1
Recent clinical, regulatory, research and industry developments relating to this disease.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 3 clinical trials expected to report results, the earliest in Q1 2027.
- Q1 2027A Phase I/II Study of the Mitogen Activated Protein Kinase (MEK) 1 Inhibitor Selumetinib (AZD6244; Hydrogen Sulfate in Children With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas (PN)
- Q1 2028Phase II Trial of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas
- Q3 2031Phase 2 Trial of Selumetinib for the Prevention of Plexiform Neurofibroma Growth and Morbidity in Neurofibromatosis Type 1
Clinical MilestonesViewHide
- 2026-06-05Antioxidant Therapy With N-acetylcysteine for Motor Behavior and/or Learning in Children With Neurofibromatosis Type 1Results posted
- 2026-03-23A Phase III, Multicentre, International Study With a Parallel, Randomised, Double-blind, Placebo-controlled, 2 Arm Design to Assess the Efficacy and Safety of Selumetinib in Adult Participants With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas (KOMET)Results posted
- 2026-07-17A Phase I/II Study of the Mitogen Activated Protein Kinase (MEK) 1 Inhibitor Selumetinib (AZD6244; Hydrogen Sulfate in Children With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas (PN)Results expected Q1 2027
- 2026-05-29Phase 2 Trial of Selumetinib for the Prevention of Plexiform Neurofibroma Growth and Morbidity in Neurofibromatosis Type 1Results expected Q3 2031
- 2026-03-05Phase II Trial of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform NeurofibromasResults expected Q1 2028
- 2025-10-30A Multi-center, Open-label, Single-arm Phase II Study to Evaluate the Efficacy and Safety of HL-085 in the Treatment of Adult Participants With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform NeurofibromasPrimary completion
- 2025-08-19A Randomized, Double-Blind, Placebo-Controlled, Multi-center Phase III Clinical Study to Evaluate the Efficacy and Safety of FCN-159 in Adult Patients With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform NeurofibromasPrimary completion
- 2026-07-17ClinicalA Phase I/II Study of the Mitogen Activated Protein Kinase (MEK) 1 Inhibitor Selumetinib (AZD6244; Hydrogen Sulfate in Children With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas (PN)Results expected Q1 2027
- 2026-06-05ClinicalAntioxidant Therapy With N-acetylcysteine for Motor Behavior and/or Learning in Children With Neurofibromatosis Type 1Results posted
- 2026-05-29ClinicalPhase 2 Trial of Selumetinib for the Prevention of Plexiform Neurofibroma Growth and Morbidity in Neurofibromatosis Type 1Results expected Q3 2031
- 2026-03-28ClinicalTopical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase IITerminated
- 2026-03-23ClinicalA Phase III, Multicentre, International Study With a Parallel, Randomised, Double-blind, Placebo-controlled, 2 Arm Design to Assess the Efficacy and Safety of Selumetinib in Adult Participants With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas (KOMET)Results posted
- 2026-03-05ClinicalPhase II Trial of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform NeurofibromasResults expected Q1 2028
- 2025-10-30ClinicalA Multi-center, Open-label, Single-arm Phase II Study to Evaluate the Efficacy and Safety of HL-085 in the Treatment of Adult Participants With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform NeurofibromasPrimary completion
- 2025-08-19ClinicalA Randomized, Double-Blind, Placebo-Controlled, Multi-center Phase III Clinical Study to Evaluate the Efficacy and Safety of FCN-159 in Adult Patients With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform NeurofibromasPrimary completion
Therapeutic landscape
Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.
Approval — Ezmekly as monotherapy is indicated for the treatment of symptomatic, inoperable plexifor… (2025)
Approval — Koselugo as monotherapy is indicated for the treatment of symptomatic, inoperable plexifo… (2021)
Clinical trials
The current development programme across all trial phases.
Regulatory timeline
Drug regulatory events matched to this condition by indication — EMA.
European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes1
- Neurofibromatosis 11
Leading journals1
- Genetics in medicine : official journal of the American College of Medical Genetics1
Leading researchers8
- Avery RA1
- Babovic-Vuksanovic D1
- Berman Y1
- Blakeley J1
- Cunha KS1
- Evans DG1
- Ferner R1
- Fisher MJ1
Affiliations (unnormalised)6
- Boston Children's Hospital1
- Children's Tumor Foundation1
- Cincinnati Children's Hospital Medical Center1
- Clinical Genetics1
- Department of Clinical Genomics1
- Department of Neurology and Cancer Center1
Reference
Authoritative identity, definition & identifiers.
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.