NATURAL HISTORY, MANAGEMENT, AND BURDEN OF DISEASE IN ADULTS WITH NF1 AND SYMPTOMATIC INOPERABLE PLEXIFORM NEUROFIBROMA IN FRANCE
Author(s)
Laura Fertitta, MD1, Sebastien Barbarot, MD, PhD2, Ayo Adeyemi, B.Pharm, MSc, PhD3, Amri Ekbel, MS4, Talha Rashid, PhD4, Joseph A. Rothwell, PhD5, Mona Amini-Adle, PhD6;
1Assistance Publique - Hôpitaux de Paris, Department of Dermatology, National Referral Center for Neurofibromatoses, Henri Mondor Hospital, Créteil, France, 2University Hospital of Nantes, Dermatology Department, Nantes, France, 3Alexion, AstraZeneca Rare Disease, Global HEOR, Boston, MA, USA, 4Alexion, AstraZeneca Rare Disease, Medical Metabolics, Paris, France, 5IQVIA, Real World Solutions, Courbevoie, France, 6Centre Léon Bérard, Department of Dermatology, Lyon, France
1Assistance Publique - Hôpitaux de Paris, Department of Dermatology, National Referral Center for Neurofibromatoses, Henri Mondor Hospital, Créteil, France, 2University Hospital of Nantes, Dermatology Department, Nantes, France, 3Alexion, AstraZeneca Rare Disease, Global HEOR, Boston, MA, USA, 4Alexion, AstraZeneca Rare Disease, Medical Metabolics, Paris, France, 5IQVIA, Real World Solutions, Courbevoie, France, 6Centre Léon Bérard, Department of Dermatology, Lyon, France
OBJECTIVES: To describe the natural history, clinical characteristics, disease burden, and treatment patterns among adults with neurofibromatosis type 1 (NF1) and symptomatic inoperable plexiform neurofibroma (PN) managed in French NF1 specialist centers.
METHODS: This retrospective, multicenter observational study included adults (≥18 years) with NF1 and symptomatic, inoperable PN identified between January 2010 and December 2018 across 10 centers. Data were extracted from medical records and analyzed descriptively at baseline and over a mean follow-up of 4.8 years. Follow-up for data collection ended in December 2023. The most clinically relevant PN was designated as the “target PN” for longitudinal assessment.
RESULTS: Eighty-three patients were enrolled; 57.8% were female, and mean age was 36.3 years. NF1 origin was sporadic in 51.8%, hereditary in 39.8%, and not reported in 8%. Target PNs were internal only (36.1%), external only (28.9%), or both (33.7%), and most commonly located in the lower extremities (27.7%) and trunk (18.1%). Inoperability was primarily due to anatomical constraints (86.7%). At baseline, 80.7% had PN-related morbidity, mainly pain (56.6%). Over follow-up, pain persisted in 61.4%, and motor dysfunction doubled (7.2% to 14.5%). PN surgery was performed ≥1 time during the follow-up in 23.3% (17/73 patients), with complications for one patient (1/17 patients; 5.9%). Healthcare resource use increased substantially: at baseline, 7.2% patients had ≥1 NF1-PN-related hospitalizations vs. 31.3% patients over the entire follow-up period, and patients with ≥1 surgical procedure at baseline and over the entire follow-up period were 6.0% vs. 39.8%, respectively. Analgesics were recorded in 13-21% of visits; systemic therapies were rarely used. Disfigurement was documented at least once in ~12% of patients.
CONCLUSIONS: Adults with NF1 and symptomatic, inoperable PN experience persistent morbidity and limited treatment options. Current management relies on partial surgery and symptomatic care, highlighting unmet needs for effective systemic therapies and standardized pain assessment.
METHODS: This retrospective, multicenter observational study included adults (≥18 years) with NF1 and symptomatic, inoperable PN identified between January 2010 and December 2018 across 10 centers. Data were extracted from medical records and analyzed descriptively at baseline and over a mean follow-up of 4.8 years. Follow-up for data collection ended in December 2023. The most clinically relevant PN was designated as the “target PN” for longitudinal assessment.
RESULTS: Eighty-three patients were enrolled; 57.8% were female, and mean age was 36.3 years. NF1 origin was sporadic in 51.8%, hereditary in 39.8%, and not reported in 8%. Target PNs were internal only (36.1%), external only (28.9%), or both (33.7%), and most commonly located in the lower extremities (27.7%) and trunk (18.1%). Inoperability was primarily due to anatomical constraints (86.7%). At baseline, 80.7% had PN-related morbidity, mainly pain (56.6%). Over follow-up, pain persisted in 61.4%, and motor dysfunction doubled (7.2% to 14.5%). PN surgery was performed ≥1 time during the follow-up in 23.3% (17/73 patients), with complications for one patient (1/17 patients; 5.9%). Healthcare resource use increased substantially: at baseline, 7.2% patients had ≥1 NF1-PN-related hospitalizations vs. 31.3% patients over the entire follow-up period, and patients with ≥1 surgical procedure at baseline and over the entire follow-up period were 6.0% vs. 39.8%, respectively. Analgesics were recorded in 13-21% of visits; systemic therapies were rarely used. Disfigurement was documented at least once in ~12% of patients.
CONCLUSIONS: Adults with NF1 and symptomatic, inoperable PN experience persistent morbidity and limited treatment options. Current management relies on partial surgery and symptomatic care, highlighting unmet needs for effective systemic therapies and standardized pain assessment.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
CO119
Topic
Clinical Outcomes
Topic Subcategory
Clinical Outcomes Assessment
Disease
No Additional Disease & Conditions/Specialized Treatment Areas