REAL-WORLD TREATMENT PATTERNS, OUTCOMES, AND RESOURCE UTILIZATION IN US ADULTS WITH NF1-PN
Author(s)
Carlos G. Romo, MD1, Theresa Dettling, MPH, MS, MSPH, RN, JD2, Sean Candrilli, PhD3, Maria I. Jimenez, MPH3, Genevieve Lyons, MSc2, Xiaoqin Yang, PhD4, Maciej Mrugala, MD5;
1Johns Hopkins School of Medicine, Baltimore, MD, USA, 2Alexion, AstraZeneca Rare Disease, Boston, MA, USA, 3RTI Health Solutions, Research Triangle Park, NC, USA, 4Merck & Co., Inc., Plainsboro, NJ, USA, 5Mayo Clinic, Phoenix, AZ, USA
1Johns Hopkins School of Medicine, Baltimore, MD, USA, 2Alexion, AstraZeneca Rare Disease, Boston, MA, USA, 3RTI Health Solutions, Research Triangle Park, NC, USA, 4Merck & Co., Inc., Plainsboro, NJ, USA, 5Mayo Clinic, Phoenix, AZ, USA
OBJECTIVES: To characterize the treatment patterns, outcomes, and healthcare resource utilization (HCRU) of adult patients in the United States with neurofibromatosis type 1 (NF1) with history of ≥ 1 symptomatic, inoperable plexiform neurofibroma (PN).
METHODS: A retrospective chart review of adult patients aged ≥ 18 with NF1 and ≥ 1 inoperable PN who had ≥ 3 clinical visits between January 2010 and September 2024 was conducted. Clinical outcomes data were abstracted for the first, middle, and last documented visit.
RESULTS: Records from 85 patients were analyzed. The mean (standard deviation [SD]) ages at NF1 diagnosis and diagnosis of first symptomatic, inoperable PN were 7.99 (13.06) and 22.31 (16.66) years, respectively. Many patients experienced pain (80.0%) or other morbidities, including migraines (29.4%), hypertension (29.4%), and cognitive disabilities (23.5%). Symptoms associated with symptomatic/inoperable PNs included pain (75.3%), disfigurement (38.8%), and motor dysfunction (29.4%). Nine patients (10.6%) had ≥ 1 malignant PN. Among all inoperable PNs, 72.9% required treatment during the study period. Reasons for initiating treatment included pain (62.4%), risky location (e.g. head, neck, spine) (28.2%), and disfigurement (20.0%). First-line treatments for symptomatic/inoperable PN included pain management (52.9%), MEK inhibitors (29.4%), and debulking/partial resection surgery (12.9%). In total, debulking/partial resection surgeries were performed on 77 PNs before the study period and 62 PNs during the study period. Emergency department and urgent care visits were common during the study period (mean, 2.52; SD, 8.49). All patients underwent imaging (including MRI, X-ray, PET, CT, and ultrasound) for diagnosis or monitoring, most commonly MRI (mean, 8.80; SD, 10.83).
CONCLUSIONS: This study presents further evidence regarding the significant burdens, unmet treatment needs, and high HCRU among adult patients with NF1 and symptomatic, inoperable PNs. In addition, this multi-center project adds valuable information to our knowledge of standard of care treatment patterns and unmet needs outside of a clinical trial population.
METHODS: A retrospective chart review of adult patients aged ≥ 18 with NF1 and ≥ 1 inoperable PN who had ≥ 3 clinical visits between January 2010 and September 2024 was conducted. Clinical outcomes data were abstracted for the first, middle, and last documented visit.
RESULTS: Records from 85 patients were analyzed. The mean (standard deviation [SD]) ages at NF1 diagnosis and diagnosis of first symptomatic, inoperable PN were 7.99 (13.06) and 22.31 (16.66) years, respectively. Many patients experienced pain (80.0%) or other morbidities, including migraines (29.4%), hypertension (29.4%), and cognitive disabilities (23.5%). Symptoms associated with symptomatic/inoperable PNs included pain (75.3%), disfigurement (38.8%), and motor dysfunction (29.4%). Nine patients (10.6%) had ≥ 1 malignant PN. Among all inoperable PNs, 72.9% required treatment during the study period. Reasons for initiating treatment included pain (62.4%), risky location (e.g. head, neck, spine) (28.2%), and disfigurement (20.0%). First-line treatments for symptomatic/inoperable PN included pain management (52.9%), MEK inhibitors (29.4%), and debulking/partial resection surgery (12.9%). In total, debulking/partial resection surgeries were performed on 77 PNs before the study period and 62 PNs during the study period. Emergency department and urgent care visits were common during the study period (mean, 2.52; SD, 8.49). All patients underwent imaging (including MRI, X-ray, PET, CT, and ultrasound) for diagnosis or monitoring, most commonly MRI (mean, 8.80; SD, 10.83).
CONCLUSIONS: This study presents further evidence regarding the significant burdens, unmet treatment needs, and high HCRU among adult patients with NF1 and symptomatic, inoperable PNs. In addition, this multi-center project adds valuable information to our knowledge of standard of care treatment patterns and unmet needs outside of a clinical trial population.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
RWD61
Topic
Real World Data & Information Systems
Topic Subcategory
Health & Insurance Records Systems
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, SDC: Neurological Disorders, SDC: Oncology, SDC: Rare & Orphan Diseases