Perspectives of Adult Patients and Caregivers on the Management and Challenges Associated With Neurofibromatosis Type 1 and Plexiform Neurofibroma: A Multinational, Qualitative Study
Moderator
Ayo Adeyemi, BSc, MSc, PhD, Alexion Pharmaceuticals, Inc., Boston, MA, United States
Speakers
Jana Michelle Erdmann; Susanna Burckhardt; Rosalie Ferner; Abby Crites
OBJECTIVES: This study aimed to obtain qualitative data on the perspectives of adult patients with neurofibromatosis type 1 and plexiform neurofibroma (NF1-PN) and caregivers of adult patients with NF1-PN, including their experiences with NF1-PN and its treatment, challenges, and unmet needs.
METHODS: We conducted 45-minute web-assisted telephone interviews with patients with NF1-PN and caregivers in Canada, China, France, Germany, Italy, Japan, Spain, and the UK. Eligible patients were aged ≥18 years (≥19 years in Japan) and formally diagnosed with NF1-PN.
RESULTS: In total, 65 patients and 14 caregivers were interviewed; across regions, the average patient age ranged between 28 and 48 years. Most patients (~70%) were diagnosed with NF1-PN in childhood. Post-diagnosis, patients were commonly referred to neurosurgeons (~40%), ophthalmologists (~30%), orthopedists/orthopedic surgeons (~25%), or oncologists (~20%). Common challenges during diagnosis were physicians’ lack of awareness of NF1-PN (~50% of participants), prolonged diagnosis confirmation (~40%), and misdiagnosis (~15%). Surgery (~50%) and pain medications (~40%) were the most common treatments; nearly all participants (~90%) mentioned the need for disease-modifying treatments. Other treatment challenges were lack of better pain management (~40%), lack of effective treatments to improve appearance (~20%), frequent/inconvenient medication administration (~15%), and limited access to specialists (~15%). Although insurance providers/national health systems funded treatment for many patients, costs were prohibitive for those without financial support. The majority (~85%) of patients diagnosed as children transitioned to adult specialist care, although ~20% had no formal transition. Some patients (~10%) dropped off during transition and others (~10%) had difficulty adjusting to adult specialists.
CONCLUSIONS: Patients and caregivers described their experiences of NF1-PN diagnosis and treatment, and its challenges, highlighting a substantial disease burden with considerable unmet needs. Patients desire treatments that halt progression and reduce pain, while being noninvasive, convenient, and accessible. Improved processes for the transition to adult care are required.
METHODS: We conducted 45-minute web-assisted telephone interviews with patients with NF1-PN and caregivers in Canada, China, France, Germany, Italy, Japan, Spain, and the UK. Eligible patients were aged ≥18 years (≥19 years in Japan) and formally diagnosed with NF1-PN.
RESULTS: In total, 65 patients and 14 caregivers were interviewed; across regions, the average patient age ranged between 28 and 48 years. Most patients (~70%) were diagnosed with NF1-PN in childhood. Post-diagnosis, patients were commonly referred to neurosurgeons (~40%), ophthalmologists (~30%), orthopedists/orthopedic surgeons (~25%), or oncologists (~20%). Common challenges during diagnosis were physicians’ lack of awareness of NF1-PN (~50% of participants), prolonged diagnosis confirmation (~40%), and misdiagnosis (~15%). Surgery (~50%) and pain medications (~40%) were the most common treatments; nearly all participants (~90%) mentioned the need for disease-modifying treatments. Other treatment challenges were lack of better pain management (~40%), lack of effective treatments to improve appearance (~20%), frequent/inconvenient medication administration (~15%), and limited access to specialists (~15%). Although insurance providers/national health systems funded treatment for many patients, costs were prohibitive for those without financial support. The majority (~85%) of patients diagnosed as children transitioned to adult specialist care, although ~20% had no formal transition. Some patients (~10%) dropped off during transition and others (~10%) had difficulty adjusting to adult specialists.
CONCLUSIONS: Patients and caregivers described their experiences of NF1-PN diagnosis and treatment, and its challenges, highlighting a substantial disease burden with considerable unmet needs. Patients desire treatments that halt progression and reduce pain, while being noninvasive, convenient, and accessible. Improved processes for the transition to adult care are required.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
PCR5
Topic
Patient-Centered Research
Topic Subcategory
Patient Engagement
Disease
SDC: Neurological Disorders, SDC: Oncology, SDC: Rare & Orphan Diseases