Targeted Therapies in Neurofibromatosis Type 1.

Area of Science:

• Genetics
• Oncology
• Pharmacology

Background:

• Neurofibromatosis type 1 (NF1) is a progressive, multisystem genetic disorder with significant clinical variability.
• NF1 can lead to severe complications impacting patient quality of life.
• Targeted therapies are increasingly important for managing NF1.

Purpose of the Study:

• To review the current landscape of targeted therapies for Neurofibromatosis type 1.
• To highlight approved and investigational treatments for various NF1-related manifestations.

Main Methods:

• Literature review of clinical trials and FDA-approved treatments for NF1.
• Analysis of emerging therapeutic strategies targeting specific NF1 complications.

Main Results:

• Selumetinib and mirdametinib are FDA-approved MEK inhibitors for NF1-related plexiform neurofibromas.
• Multiple MEK inhibitors are in clinical trials for plexiform neurofibromas.
• Other targeted therapies are under investigation for malignant peripheral nerve sheath tumors, low-grade gliomas, and skeletal issues.

Conclusions:

• Targeted therapies, particularly MEK inhibitors, represent a significant advancement in NF1 management.
• Ongoing research is expanding treatment options for diverse NF1 complications.
• Personalized therapeutic approaches are crucial for addressing the heterogeneity of NF1.