Patient reported outcomes

The NTAP Patient Reported Outcomes (PRO) Initiative aims to develop reliable measures that assess the impact of plexiform neurofibromas (pNFs) on patients with neurofibromatosis type 1 (NF1).

This program is leading the creation and validation of PRO measures to be used as treatment outcomes that are the most relevant to patients, and which can be used as primary or secondary endpoints in clinical trials and product labeling applications. There are currently no PRO measures that have been validated specifically for use in patients with pNFs.

Scroll down to read the details on four NTAP-funded projects to fill the gap on developing reliable and consistent PRO measures for evaluating the impact of plexiform neurofibromas on patients with neurofibromatosis type 1 (NF1).

PROJECT: Development of Patient Reported Outcomes system for patients with NF1-Associated plexiform neurofibromas using mixed method approach

Jin-Shei Lai, Ph.D. OTR/L, Feinberg School of Medicine, Northwestern University

This project created a computer-based patient reported outcome (PRO) measure for use with patients 5 years and older who have neurofibromatosis type 1 and plexiform neurofibromas. The tool produced by this work has multiple domains, including pain, stigma, organ dysfunction and others identified through the concept elicitation phase of the study. Methodology used to create the Patient Reported Outcomes Measurement Information System (PROMIS) and the Quality of Life for Patients with Neurological Disorders (Neuro-QOL) were used as the basis for the methodology that guided this work. Items from the PROMIS Pediatric Pain Interference bank, the Neuro-QOL Pediatric Pain bank, and the Neuro-QOL Pediatric Stigma bank were modified and supplemented with new items as needed. Item Response Theory was used to analyze the psychometric properties of the items generated.

Narrative: Read about the project’s background, goals, specific aims, and preliminary results auspices of Dr. Jin-Shei Lai, js-lai@northwestern.edu

Publication 1: Lai, J.S., Jensen, S.E., Patel, Z., Listernick, R., Charrow, J. (2017). Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis Type 1 associated plexiform neurofibromas (pNF) across the lifespan. American Journal of Medical Genetics Part A, 173(1), 79-87.

Publication 2: Patel, Z.S., Jensen, S.E., Lai, J.S. (2016). Considerations for conducting qualitative research with pediatric patients for the purpose of PRO development. Quality of Life Research, 25, 2193-2199.

PROJECT: Development of a child Neurofibromatosis Type 1 health related quality of life measure

Nancy Swigonski, M.D., M.P.H. and Kavitha Nutakki, MBBS, MPH, University of Indiana

This project aimed to develop and test the measurement properties of the Pediatric Quality of Life InventoryTM (PedsQLTM) Neurofibromatosis Type 1 Module for pediatric and young adult patients ages 5-25 with NF1 from the perspectives of patients and parents. The PedsQL^TM NF1 Module Scales demonstrated acceptable to excellent measurement properties, and may be utilized as standardized metrics to assess NF1-specific symptoms and problems in clinical research and practice in children, adolescents, and young adults. The PedsQL™ NF1 Module will have a significant impact on the design of clinical trials targeted to better understand and improve clinical treatment for NF1.

Narrative: Read about the project’s background, goals, specific aims, methods, results, and impact (auspices of Dr. Nancy Swigonski, nswigons@iupui.edu and Kavitha Nutakki, knutakki@iupui.edu.

Publication 1: Nutakki K, Varni JW, Steinbrenner S, Draucker CB, Swigonski NL. Development of the pediatric quality of life inventory neurofibromatosis type 1 module items for children, adolescents and young adults: qualitative methods. J Neurooncol. 2017 Mar;132(1):135-143.

Publication 2: Draucker CB, Nutakki K, Varni JW, Swigonski NL. The health-related quality of life of children, adolescents, and young adults with neurofibromatosis type 1 and their families: Analysis of narratives. J Spec Pediatr Nurs. 2017 Feb 15.

PROJECT: The development and validation of PRO measures to assess pain in individuals with NF1 and pNF

Pam Wolters, Ph.D., National Cancer Institute

This project aims to create two PROs for use with people ages 6 and above who have neurofibromatosis type 1 and plexiform neurofibromas. The tools produced by this work will measure pain intensity and pain interference. For pain intensity, this team proposes to modify the Numerical Rating Scale-11 (NRS-11); construct validity will be assessed using the Visual Analog Scale and the Faces Pain Scale-Revised. The proposal includes work to validate the NRS-11 for children ages 6-7, as it currently is validated for individuals ages 8 and above. For pain interference, the Pain Interference Index will be modified; construct validity will be assessed using the Functional Disability Inventory.

Narrative: Read about the project’s background, goals, specific aims, and preliminary results auspices of Dr. Pam Wolters, woltersp@mail.nih.gov

PROJECT: Development of a needs-based quality of life Patient Reported Outcome measure specific patients with NF1-associated pNFs

Stephen McKenna Ph.D., AFBPsS, C.psychol, Galen Research

This project created a patient reported outcome (PRO) measure for use with people aged 18 and above who have neurofibromatosis type 1 (NF1) and plexiform neurofibromas (pNFs). The tool produced by this work is a needs-based quality of life instrument with items focusing on need fulfillment rather than specific symptoms or functioning. The measure aimed to determine the impact of stigma, pain, organ compression, neurological dysfunction and any other concerns identified through the concept elicitation phase of the study on need fulfillment. Utilizing Rasch analysis, the proposed tool is unidimensional and provides a valid single score, which would be complementary to symptom and functioning scales. The tool has been developed in both UK English and US English.

Narrative: Read about the project’s background, goals, methods, and preliminary results auspices of Dr. Stephen McKenna, smckenna@galen-research.com