Sleep and pulmonary outcomes for clinical trials of airway plexiform neurofibromas in NF1

摘要: Objective: Plexiform neurofibromas (PNs) are complex, benign nerve sheath tumors that occur in approximately 25%–50% of individuals with neurofibromatosis type 1 (NF1). PNs cause airway compromise or pulmonary dysfunction uncommon but clinically important. Because improvement sleep quality function represents direct clinical benefit, measures and may be more meaningful than tumor size as endpoints therapeutic trials targeting PN. Methods: The Response Evaluation Neurofibromatosis Schwannomatosis functional outcomes group reviewed currently available for developed consensus recommendations response evaluation NF trials. Results: For patients PNs, polysomnography, impulse oscillometry, spirometry should performed to identify abnormal will targeted by the agent under investigation. endorsed use apnea hypopnea index (AHI) primary endpoint, resistance at 10 Hz (R ) forced expiratory volume 0.75 seconds (FEV FEV endpoints. defined minimum changes AHI, R , criteria. Secondary include desaturation hypercapnia during arousal index. reactance measurements 5, 10, 20 Hz; vital capacity; peak flow; flows. Conclusions: These recommended evaluations intended provide researchers a standardized set NF1-related PNs.