Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials

Wolters, Pamela L.; Vranceanu, Ana‐Maria; Thompson, Heather L.; Martin, Staci; Merker, Vanessa L.; Baldwin, Andrea; Barnett, Carolina; Koetsier, Kimberley S.; Hingtgen, Cynthia M.; Funes, Christopher J.; Tonsgard, James H.; Schorry, Elizabeth K.; Allen, Terrence K.; Smith, Taylor R.; Franklin, Barbara; Reeve, Stephanie

doi:10.1212/wnl.0000000000012421

Cited by 13 publications

(13 citation statements)

References 61 publications

(169 reference statements)

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“…Prospective use of domain-specific or disease-specific measures may provide insights into changes in pain or QOL specifically related to neurofibroma growth. 35,36 Our study has some limitations. First, the annual tumor growth rate was calculated by dividing the volumetric change by the number of years between 2 scans, thus assuming linear growth, which may not be accurate.…”

Section: Discussionmentioning

confidence: 93%

Ten-Year Follow-up of Internal Neurofibroma Growth Behavior in Adult Patients With Neurofibromatosis Type 1 Using Whole-Body MRI

Merker

Cai

et al. 2023

Neurology

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Background and Objectives:Internal neurofibromas, including plexiform neurofibromas (PNF), can cause significant morbidity in neurofibromatosis type 1 (NF1) patients. PNF growth is most pronounced in children and young adults, with more rapid growth thought to occur in a subset of PNF termed distinct nodular lesions (DNL). Growth behavior of internal neurofibromas and DNL in older adults is not well documented; yet knowledge thereof is important for patient risk stratification and clinical trial design. The primary objective of this study was to evaluate the long-term growth behavior of internal neurofibromas in adults with NF1. Secondary objectives were to correlate tumor growth behavior with patient-specific, tumor-specific, and patient-reported variables.Methods:In this prospective cohort study, internal neurofibromas were identified on coronal short TI inversion recovery (STIR) sequences on baseline and follow-up whole-body MRIs (WBMRIs). Tumor growth and shrinkage were defined as a volume change ≥20%. The association between tumor growth and patient-specific (baseline age, gender, genotype), tumor-specific (morphology, location, DNL presence on baseline WBMRI, maximum standardized uptake value on baseline PET imaging), and patient-reported variables (endogenous and exogenous hormone exposure, pain intensity, quality of life) was assessed using Spearman’s correlation coefficient and Kruskal-Wallis test.Results:Of 106 patients with a baseline WBMRI obtained as part of a previous research study, 44 had a follow-up WBMRI. Three additional patients with WBMRIs acquired for clinical care were included, generating forty-seven adults for this study. Median age at time of baseline WBMRI was 42 years (range 18-70). Median time between WBMRIs was 10.4 years. Among 324 internal neurofibromas, 62.8% (56% of PNF, 62.1% of DNL) shrank spontaneously without treatment and 17.1% (17.9% of PNF, 13.8% of DNL) grew. Growth patterns were heterogeneous within participants. Patient-specific, tumor-specific, and patient-reported variables (including endogenous and exogenous hormone exposure) were not strong predictors of tumor growth.Conclusions:Internal neurofibroma growth behavior in older adults differs fundamentally from that in children and young adults, with most tumors, including DNL, demonstrating spontaneous shrinkage. Better growth models are needed to understand factors that influence tumor growth. These results will inform clinical trial design for internal neurofibromas.

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Section: Discussionmentioning

confidence: 93%

Ten-Year Follow-up of Internal Neurofibroma Growth Behavior in Adult Patients With Neurofibromatosis Type 1 Using Whole-Body MRI

Merker

Cai

et al. 2023

Neurology

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“…This may also explain why generic measures such as the EQ-5D-5L and its associated VAS score showed relatively high mean scores in this cohort, as they probably cannot capture well the effects of disfigurement, stigma, and associated social impacts such as effects on employment and social relations. Recommendations for QoL measures in NF1 have been recently published and can help researchers to choose appropriate measures for future studies [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

A cross-sectional study of gender differences in quality of life domains in patients with neurofibromatosis type 1

Hamoy-Jimenez

Elahmar²,

Mendoza

et al. 2022

Orphanet J Rare Dis

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Background There is limited data regarding gender differences in quality of life between women and men with Neurofibromatosis type 1. We aimed to study differences in quality of life domains between women and men with Neurofibromatosis type 1 living in Canada. Methods This is a cross sectional study of adults with Neurofibromatosis type 1 attending a tertiary NF centre at Toronto General Hospital between January 2016 to December 2017. Demographic and clinical data were collected. We compared scores of generic measures (SF-36, EQ-5D-5L, pain interference) and a disease-specific measure (PedsQL-NF1 module) between women and men. We also assessed the relationship between disease visibility scored by an examiner (Ablon’s visibility index) and self-reported perceived physical appearance, stratified by gender. Results One hundred and sixty-two participants were enrolled, 92 females and 70 males. Ablon’s index score 1 was in 43% and score 2 in 44%, while only 13% of patients had a score 3. Women had worse scores on the total PedsQL-NF1 scales, and also in the perceived physical appearance, anxiety and emotional health domains. In women, there was a low but significant correlation between Ablon’s index and perceived physical appearance (r = − 0.27, p = 0.01, ANOVA p < 0.001). In men, there was no difference in self-reported physical appearance by Ablon’s index. There were no differences between men and women in the SF-36 or EQ-5D-5L scores. Conclusion Women with NF1 reported worse NF1-related quality of life than men, with worse perceived physical appearance, anxiety, and mental health. Perceived physical appearance does not always correlate to disease visibility; therefore, healthcare providers should inquire about body image, physical appearance concerns, and mental health, especially among women with NF1.

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“…Collaboration. 18 The physical health domain (7 items) assesses activities of daily living, dependence on medical substances or aids, energy and fatigue, mobility, pain and discomfort, sleep and rest, and work capacity. The psychological domain (6 items) assesses enjoyment in life, meaningfulness of life, ability to concentrate, completely accepting bodily appearance, satisfaction with self, and frequency of negative feelings.…”

Section: Response Evaluation In Neurofibromatosis and Schwannomatosis...mentioning

confidence: 99%

Effect of Mind-Body Skills Training on Quality of Life for Geographically Diverse Adults With Neurofibromatosis

et al. 2023

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ImportanceNeurofibromatoses (NF; NF1, NF2, and schwannomatosis) are hereditary tumor predisposition syndromes with a risk for poor quality of life (QOL) and no evidence-based treatments.ObjectiveTo compare a mind-body skills training program, the Relaxation Response Resiliency Program for NF (3RP-NF), with a health education program (Health Enhancement Program for NF; HEP-NF) for improvement of quality of life among adults with NF.Design, Setting, and ParticipantsThis single-blind, remote randomized clinical trial randomly assigned 228 English-speaking adults with NF from around the world on a 1:1 basis, stratified by NF type, between October 1, 2017, and January 31, 2021, with the last follow-up February 28, 2022.InterventionsEight 90-minute group virtual sessions of 3RP-NF or HEP-NF.Main Outcomes and MeasuresOutcomes were collected at baseline, after treatment, and at 6-month and 1-year follow-up. The primary outcomes were physical health and psychological domain scores of the World Health Organization Quality of Life Brief Version (WHOQOL-BREF). Secondary outcomes were the social relationships and environment domain scores of the WHOQOL-BREF. Scores are reported as transformed domain scores (range, 0-100, with higher scores indicating higher QOL). Analysis was performed on an intention-to-treat basis.ResultsOf 371 participants who underwent screening, 228 were randomized (mean [SD] age, 42.7 [14.5] years; 170 women [75%]), and 217 attended 6 or more of 8 sessions and provided posttest data. Participants in both programs improved from baseline to after treatment in primary outcomes of physical health QOL score (3RP-NF, 5.1; 95% CI, 3.2-7.0; P &lt; .001; HEP-NF, 6.4; 95% CI, 4.6-8.3; P &lt; .001) and psychological QOL score (3RP-NF, 8.5; 95% CI, 6.4-10.7; P &lt; .001; HEP-NF, 9.2; 95% CI, 7.1-11.2; P &lt; .001). Participants in the 3RP-NF group showed sustained improvements after treatment to 12 months; posttreatment improvements for the HEP-NF group diminished (between-group difference for physical health QOL score, 4.9; 95% CI, 2.1-7.7; P = .001; effect size [ES] = 0.3; and psychological QOL score, 3.7; 95% CI, 0.2-7.6; P = .06; ES = 0.2). Results were similar for secondary outcomes of social relationships and environmental QOL. There were significant between-group differences from baseline to 12 months in favor of the 3RP-NF for physical health QOL score (3.6; 95% CI, 0.5-6.6; P = .02; ES = 0.2), social relationships QOL score (6.9; 95% CI, 1.2-12.7; P = .02; ES = 0.3), and environmental QOL score (3.5; 95% CI, 0.4-6.5; P = .02; ES = 0.2).Conclusions and RelevanceIn this randomized clinical trial of 3RP-NF vs HEP-NF, benefits from 3RP-NF and HEP-NF were comparable after treatment, but at 12 months from baseline, 3RP-NF was superior to HEP-NF on all primary and secondary outcomes. Results support the implementation of 3RP-NF in routine care.Trial RegistrationClinicalTrials.gov Identifier: NCT03406208

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Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials

Cited by 13 publications

References 61 publications

Ten-Year Follow-up of Internal Neurofibroma Growth Behavior in Adult Patients With Neurofibromatosis Type 1 Using Whole-Body MRI

Ten-Year Follow-up of Internal Neurofibroma Growth Behavior in Adult Patients With Neurofibromatosis Type 1 Using Whole-Body MRI

A cross-sectional study of gender differences in quality of life domains in patients with neurofibromatosis type 1

Effect of Mind-Body Skills Training on Quality of Life for Geographically Diverse Adults With Neurofibromatosis

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