CLINICAL AND HUMANISTIC BURDEN OF ADULT PATIENTS WITH NEUROFIBROMATOSIS TYPE 1 WITH PLEXIFORM NEUROFIBROMA IN THE REAL-WORLD SETTING ACROSS FOUR EUROPEAN COUNTRIES: RESULTS FROM A REAL-WORLD SURVEY
Author(s)
Ignacio Blanco, MD, PhD1, Nuria Moreno, PhD2, Natalia Male, PhD2, Francesca Gatta, MSc3, Denise Baldock, MSc4, Ayo Adeyemi, B.Pharm, MSc, PhD5.
1Medical Genetics, Laboratori Clinic de la Metropolitana Nord, Hospital Germans Trias i Pujol, Barcelona, Spain, 2Alexion, AstraZeneca Rare Disease, Barcelona, Spain, 3Alexion, AstraZeneca Rare Disease, Zurich, Switzerland, 4Adelphi Real World, Bollington, United Kingdom, 5Alexion, AstraZeneca Rare Disease, Boston, MA, USA.
1Medical Genetics, Laboratori Clinic de la Metropolitana Nord, Hospital Germans Trias i Pujol, Barcelona, Spain, 2Alexion, AstraZeneca Rare Disease, Barcelona, Spain, 3Alexion, AstraZeneca Rare Disease, Zurich, Switzerland, 4Adelphi Real World, Bollington, United Kingdom, 5Alexion, AstraZeneca Rare Disease, Boston, MA, USA.
Presentation Documents
OBJECTIVES: With limited data available on burden of disease among adults with neurofibromatosis type 1-associated plexiform neurofibroma (NF1-PN), this study aims to provide a comprehensive overview of such impact in adults with NF1-PN in Europe.
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 Germany, Italy, Spain, and the UK (reported by their physicians) were collected retrospectively (June-November 2025). Data on demographics, clinical characteristics, perceived severity, PN specifics (including surgeries) and performance status were collected; analyses were descriptive.
RESULTS: This study included data on 330 patients (Germany, 29%; Italy, 31%, Spain, 24% and the UK, 16%) provided by 74 physicians (neurologists, 34%; dermatologists, 31%; oncologists, 14%; other, 23%). Mean (standard deviation [SD]) patient age was 35.0 (13.7) years, 56% were male, 95% were White and 45% were employed. Physicians considered NF1-PN to be moderate-very severe in 37% of cases, and 65% of patients scored 1-4 on the Eastern Cooperative Oncology Group (ECOG) scale. Patients had ≥1 PN in the legs (46%), arms (38%), chest (30%), neck (30%) and spine (24%). Of patients with ≥1 PN in the spine, the largest PN was internal in 84% vs 30% of cases in the legs. Pain (50%) and skin-related disorders (40%) were the most common NF1/NF1-PN-related symptoms. Over half (54%) of patients had undergone NF1-PN-related surgery. For those employed, work was affected in 50%, and 30% reduced their working hours. Patients missed a mean (SD) of 1.7 (3.0) days of work per month due to NF1-PN.
CONCLUSIONS: Adults with NF1-PN in selected European countries experienced substantial functional impairment and impacts on their work. These findings provide valuable insights into disease burden, highlighting the humanistic and economic burden for adult patients with NF1-PN in Europe.
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 Germany, Italy, Spain, and the UK (reported by their physicians) were collected retrospectively (June-November 2025). Data on demographics, clinical characteristics, perceived severity, PN specifics (including surgeries) and performance status were collected; analyses were descriptive.
RESULTS: This study included data on 330 patients (Germany, 29%; Italy, 31%, Spain, 24% and the UK, 16%) provided by 74 physicians (neurologists, 34%; dermatologists, 31%; oncologists, 14%; other, 23%). Mean (standard deviation [SD]) patient age was 35.0 (13.7) years, 56% were male, 95% were White and 45% were employed. Physicians considered NF1-PN to be moderate-very severe in 37% of cases, and 65% of patients scored 1-4 on the Eastern Cooperative Oncology Group (ECOG) scale. Patients had ≥1 PN in the legs (46%), arms (38%), chest (30%), neck (30%) and spine (24%). Of patients with ≥1 PN in the spine, the largest PN was internal in 84% vs 30% of cases in the legs. Pain (50%) and skin-related disorders (40%) were the most common NF1/NF1-PN-related symptoms. Over half (54%) of patients had undergone NF1-PN-related surgery. For those employed, work was affected in 50%, and 30% reduced their working hours. Patients missed a mean (SD) of 1.7 (3.0) days of work per month due to NF1-PN.
CONCLUSIONS: Adults with NF1-PN in selected European countries experienced substantial functional impairment and impacts on their work. These findings provide valuable insights into disease burden, highlighting the humanistic and economic burden for adult patients with NF1-PN in Europe.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
CO79
Topic
Clinical Outcomes
Topic Subcategory
Clinician Reported Outcomes
Disease
No Additional Disease & Conditions/Specialized Treatment Areas