NF1 PN HRQoL Cross-Sectional Study
Research type
Research Study
Full title
A cross-sectional health-related quality of life (HRQoL) study in paediatric patients and their caregivers, and adults with NF1 PN receiving established clinical care without selumetinib, an oral, potent selective MEK1/2 inhibitor, in the United Kingdom.
IRAS ID
285987
Contact name
Volkan Barut
Contact email
Sponsor organisation
AstraZeneca
Duration of Study in the UK
0 years, 4 months, 25 days
Research summary
Research Summary
Neurofibromatosis type 1 (NF1) is a rare genetic disorder (with an incidence of 1:3000 in European paediatric populations). Patients with NF1 have an increased risk of developing tumours of the central and peripheral nervous system, including plexiform neurofibromas (PN). Symptoms of NF1 include skin conditions, such as café-au-lait spots or freckling of the armpit or groin, skeletal abnormalities, vascular abnormalities and cognitive deficits. The disease first appears in early childhood, and rapidly progresses into adolescence, when, in many cases, the progression rate slows. Patients are normally treated in specialist centres by neurologists or neuro-oncologists, and care is usually provided in line with local protocols; there are no national treatment guidelines in place within the EU. There are currently no standard drug treatments available. A review of published literature on the human burden of NF1 PN found an evidence gap in research calculating the health-related quality of life (HRQoL) of NF1 PN patients and caregivers.The purpose of this study is to understand the burden of patients with NF1 PN and their caregivers, through a set of standardised questionnaires designed to allow researchers to work out the participant's HRQoL. The study will include clinically managed NF1 PN adult and paediatric patients 2 years of age or older, and caregivers of paediatric patients (2-18) who are themselves aged over 18, living in the United Kingdom. The study objectives are to evaluate HRQoL in these patients and their caregivers, and to explore how these patients' and caregivers' demographic and clinical characteristics might be linked to their HRQoL. The study is being sponsored by AstraZeneca (a pharmaceutical company) and Merck Sharp & Dohme, advertised by Nerve Tumours UK (a UK patient advocacy group [PAG]) and run by Costello Medical (an independent, UK-based research consultancy).
Summary of Results
Children and adults with neurofibromatosis type 1 with plexiform neurofibromas (NF1 PN) and caregivers took part in an online survey. The anonymous survey was run in March–April 2021 in the UK. The survey asked participants about their physical and mental wellbeing, known as their health-related quality of life. The study was conducted to help healthcare decision-makers better understand the challenges faced by people with NF1 PN and their caregivers. Nerve Tumours UK (NTUK) advertised the survey. AstraZeneca and Merck Sharpe & Dohme funded the survey.Seven children with NF1 PN (with an average of 10 years), or caregivers on their behalf, completed the survey. Almost 90% of children had NF1 PN symptoms like pain, disfigurement (changes to how they look) and motor dysfunction (difficulty moving). Over 60% of children had comorbidities (other medical conditions). Two-thirds of children had learning or attention problems. Children aged 12–18 years had problems with mobility, self-care, usual activities, pain/discomfort and anxiety/depression. However, most children 5–9 years old did not report these problems. Children 12–18 years old had worse health-related quality of life scores compared with the general population. The score for children aged 12–18 years old with NF1 PN was 0.36, compared with 0.92 for the general population. This is measured on a scale of 0 to 1, where a lower value means worse physical and mental wellbeing.
Eight caregivers of children with NF1 PN completed the survey about themselves. Caregivers did not have NF1 PN themselves. Only one caregiver was unable to work due to caregiving. The remaining seven caregivers were employed part-time or full-time. They reported that they lost almost a quarter of worktime because of caregiving. They were 42% less productive at work. They were also 36% less productive during regular activities (such as household chores) because of caregiving. Over 60% of caregivers reported having comorbidities. Half of the caregivers reported problems with anxiety/depression. Caregivers had worse health-related quality of life scores compared with the general population. The average score for caregivers was 0.72, compared with 0.88 for the general population. This is measured on a scale of 0 to 1 where a lower value means worse physical and mental wellbeing.Thirty-three adults with NF1 PN completed the survey about themselves. Almost 90% of adults had symptoms, and over 60% had comorbidities. Both of these were associated with a worse quality of life. More than 60% of adults were experiencing disfigurement. Over 80% of adults had problems with anxiety/depression. Over half of adults experienced pain, which was associated with having a poorer quality of life. Having chronic itching or having PN on arms/legs (compared to on other parts of the body) were also associated with having a poorer quality of life. Adults had worse health-related quality of life scores compared with the general population. The average score for adults with NF1 PN was 0.65, compared with 0.89 for the general population. This is measured on a scale of 0 to 1 where a lower value means worse physical and mental wellbeing.
REC name
London - West London & GTAC Research Ethics Committee
REC reference
21/PR/0110
Date of REC Opinion
26 Feb 2021
REC opinion
Further Information Favourable Opinion