DESCRIPTION OF THE CHARACTERISTICS AND BURDEN OF NEUROFIBROMATOSIS TYPE 1 WITH PLEXIFORM NEUROFIBROMA IN A SAMPLE OF ADULT PATIENTS IN THE USA: RESULTS FROM A REAL-WORLD SURVEY
Author(s)
Justin Jordan, MD, MPH, FAAN1, Theresa Dettling, MPH, MS, MSPH, RN, JD2, Courtney Smith, PharmD2, Nathan Ball, BSc3, Ayo Adeyemi, B.Pharm, MSc, PhD2;
1University of Texas Southwestern Medical Center, Department of Neurology, Dallas, TX, USA, 2Alexion, AstraZeneca Rare Disease, Boston, MA, USA, 3Adelphi Real World, Bollington, United Kingdom
1University of Texas Southwestern Medical Center, Department of Neurology, Dallas, TX, USA, 2Alexion, AstraZeneca Rare Disease, Boston, MA, USA, 3Adelphi Real World, Bollington, United Kingdom
OBJECTIVES: To describe patient demographics, clinical characteristics and the burden of neurofibromatosis type 1-associated plexiform neurofibroma (NF1-PN) in adults in the USA.
METHODS: Data were drawn from the Adelphi Real World Disease Specific Programme™, a cross-sectional survey, in which data for adult patients diagnosed with NF1-PN in the USA (reported by their physicians) were collected retrospectively (June-October 2025). Patient demographics, clinical characteristics, resource use, and humanistic data were collected; analyses were descriptive.
RESULTS: Data on 170 patients were reported: mean (standard deviation [SD]) age was 36.6 (17.4) years, 53% were male, 75% were White, and 42% were employed (absent from work mean [SD] 1.3 [4.7] days per month). Of 22 physicians who provided patient data, 50% were dermatologists. Physicians reported severity status using the Eastern Cooperative Oncology Group scale; 60% of patients had scores ≥1 (some restriction). Physicians reported 91% of patients experienced ≥1 NF1/NF1-PN-related symptom (most common symptoms were pain [48%], anxiety [40%], and skin/subcutaneous tissue disorders [38%]); pain was reported as the most burdensome symptom (28%). Physicians reported patients had ≥1 PN located on the arms (42%), legs (39%), chest (27%), neck (25%), and abdomen (18%); by volume, the majority (72-94%) of the largest PN documented were external (physically visible) vs internal in these locations. The most clinically relevant PN were due to pain (46%), size (45%), and location (40%). Physical (86%) and skin (80%) examinations were commonly used for PN monitoring; full-body and volumetric MRI scans were performed for 25% and 24% of patients, respectively. Regarding healthcare resource utilization, 35% of patients were reported to have had PN-related surgery, and 19% were hospitalized in the 12 months preceding survey.
CONCLUSIONS: These findings describe the adult patient population with NF1-PN in the USA, highlighting substantial clinical and humanistic burden, with pain highlighted by physicians as highly prevalent and burdensome.
METHODS: Data were drawn from the Adelphi Real World Disease Specific Programme™, a cross-sectional survey, in which data for adult patients diagnosed with NF1-PN in the USA (reported by their physicians) were collected retrospectively (June-October 2025). Patient demographics, clinical characteristics, resource use, and humanistic data were collected; analyses were descriptive.
RESULTS: Data on 170 patients were reported: mean (standard deviation [SD]) age was 36.6 (17.4) years, 53% were male, 75% were White, and 42% were employed (absent from work mean [SD] 1.3 [4.7] days per month). Of 22 physicians who provided patient data, 50% were dermatologists. Physicians reported severity status using the Eastern Cooperative Oncology Group scale; 60% of patients had scores ≥1 (some restriction). Physicians reported 91% of patients experienced ≥1 NF1/NF1-PN-related symptom (most common symptoms were pain [48%], anxiety [40%], and skin/subcutaneous tissue disorders [38%]); pain was reported as the most burdensome symptom (28%). Physicians reported patients had ≥1 PN located on the arms (42%), legs (39%), chest (27%), neck (25%), and abdomen (18%); by volume, the majority (72-94%) of the largest PN documented were external (physically visible) vs internal in these locations. The most clinically relevant PN were due to pain (46%), size (45%), and location (40%). Physical (86%) and skin (80%) examinations were commonly used for PN monitoring; full-body and volumetric MRI scans were performed for 25% and 24% of patients, respectively. Regarding healthcare resource utilization, 35% of patients were reported to have had PN-related surgery, and 19% were hospitalized in the 12 months preceding survey.
CONCLUSIONS: These findings describe the adult patient population with NF1-PN in the USA, highlighting substantial clinical and humanistic burden, with pain highlighted by physicians as highly prevalent and burdensome.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
CO158
Topic
Clinical Outcomes
Topic Subcategory
Clinician Reported Outcomes
Disease
No Additional Disease & Conditions/Specialized Treatment Areas