Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases

Tina Duong^{1

2}, Kristin J Krosschell³, Meredith K James⁴, Leslie Nelson⁵, Lindsay N Alfano^{6

7}, Katy Eichinger⁸, Elena Mazzone⁹, Kristy Rose¹⁰, Linda P Lowes^{6

7}, Anna Mayhew⁴, Julaine Florence¹¹, Wendy King¹², Claudia R Senesac¹³, Michelle Eagle^{4

14}

Affiliations

¹ Department of Neurology, Stanford University, Palo Alto, CA, United States.
² Children's National Hospital, Washington, DC, United States.
³ Department of Physical Therapy and Human Movement Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, United States.
⁴ The John Walton Muscular Dystrophy Research Centre, Newcastle Hospitals NHS Foundation Trust, Newcastle University, Newcastle upon Tyne, United Kingdom.
⁵ Department of Physical Therapy, University of Texas Southwestern Medical Center, Dallas, TX, United States.
⁶ Department of Pediatrics, The Ohio State University, Columbus, OH, United States.
⁷ Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States.
⁸ Department of Neurology, University of Rochester Medical Center, Rochester, NY, United States.
⁹ Department of Child Neurology, Catholic University Policlinico Gemelli, Rome, Italy.
¹⁰ Discipline of Physiotherapy, Faculty of Medicine and Health, The Sydney Children's Hospital Network, University of Sydney, Sydney, NSW, Australia.
¹¹ Department of Neurology, Washington University School of Medicine, St. Louis, MO, United States.
¹² Department of Neurology, The Ohio State University, Columbus, OH, United States.
¹³ Department of Physical Therapy, University of Florida, Gainesville, FL, United States.
¹⁴ ATOM International Ltd., Newcastle upon Tyne, United Kingdom.

PMID: 34858470
PMCID: PMC8631528
DOI: 10.3389/fgene.2021.735936

Review

Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases

Tina Duong et al. Front Genet. 2021.

. 2021 Nov 10:12:735936.

doi: 10.3389/fgene.2021.735936. eCollection 2021.

Authors

Affiliations

¹ Department of Neurology, Stanford University, Palo Alto, CA, United States.
² Children's National Hospital, Washington, DC, United States.
³ Department of Physical Therapy and Human Movement Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, United States.
⁴ The John Walton Muscular Dystrophy Research Centre, Newcastle Hospitals NHS Foundation Trust, Newcastle University, Newcastle upon Tyne, United Kingdom.
⁵ Department of Physical Therapy, University of Texas Southwestern Medical Center, Dallas, TX, United States.
⁶ Department of Pediatrics, The Ohio State University, Columbus, OH, United States.
⁷ Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States.
⁸ Department of Neurology, University of Rochester Medical Center, Rochester, NY, United States.
⁹ Department of Child Neurology, Catholic University Policlinico Gemelli, Rome, Italy.
¹⁰ Discipline of Physiotherapy, Faculty of Medicine and Health, The Sydney Children's Hospital Network, University of Sydney, Sydney, NSW, Australia.
¹¹ Department of Neurology, Washington University School of Medicine, St. Louis, MO, United States.
¹² Department of Neurology, The Ohio State University, Columbus, OH, United States.
¹³ Department of Physical Therapy, University of Florida, Gainesville, FL, United States.
¹⁴ ATOM International Ltd., Newcastle upon Tyne, United Kingdom.

PMID: 34858470
PMCID: PMC8631528
DOI: 10.3389/fgene.2021.735936

Abstract

Critical components of successful evaluation of clinical outcome assessments (COAs) in multisite clinical trials and clinical practice are standardized training, administration, and documented reliability of scoring. Experiences of evaluators, alongside patient differences from regional standards of care, may contribute to heterogeneity in clinical center's expertise. Achieving low variability and high reliability of COA is fundamental to clinical research and to give confidence in our ability to draw rational, interpretable conclusions from the data collected. The objective of this manuscript is to provide a framework to guide the learning process for COAs for use in clinics and clinical trials to maximize reliability and validity of COAs in neuromuscular disease (NMD). This is a consensus-based guideline with contributions from fourteen leading experts in clinical outcomes and the field of clinical outcome training in NMD. This framework should guide reliable and valid assessments in NMD specialty clinics and clinical trials. This consensus aims to expedite study start up with a progressive training pathway ranging from research naïve to highly experienced clinical evaluators. This document includes recommendations for education guidelines and roles and responsibilities of key stakeholders in COA assessment and implementation to ensure quality and consistency of outcome administration across different settings.

Keywords: clinical evaluation education; clinical outcomes assessment; clinical trial readiness; evaluator training; neuromuscular disease (NMD).

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Conflict of interest statement

TD has served on medical advisory boards and/or consultant for Scholar Rock, Genentech, F. Hoffman La Roche, Biogen, Sarepta, Novartis, Solid Biosciences, Dynacure, Dyne, and Audentes Consultancy also through ATOM International and Trinds (Biomarin, Pfizer, Solid Biosciences, Sarepta, and Astellas). She has received research grant support from Ionis. KJK receives consulting fees from Cure SMA, ASPA Therapeutics, and Biogen and Honoraria from Stanford University and Cure SMA; Advisory Board member of Biogen and Cure SMA; Roche; Grant funding: Academy of Pediatric PT, APTA; subcontracts from Lurie Children’s for Biogen, Cytokinetics, Avexis, and Scholar Rock and NIH iAcquire clinical trial. MKJ provides consultancy services for the following companies: ATOM International (covers consultancy services provided to Amicus Therapeutics Pty., Ltd., Ascendis Pharma, Biomarin, Catabasis, Faraday, FibroGen, Genethon, Italfarmaco, NS Pharma, Pfizer, PTC Therapeutics, QED Therapeutics Ltd., Reveragen, and Sarepta Therapeutics). MKJ has received payment for participation on Advisory Boards for F. Hoffman La Roche AG, PTC Therapeutics and fee support for Ph.D. studies from the Jain Foundation. LN has served on Medical Advisory Boards and as a consultant for Sarepta, Pfizer, Biogen, Novartis, Scholar Rock, Genentech, and F. Hoffmann-La Roche. She served as a member of ATOM from 2015 to 2020. LNA provides consultancy services through ATOM International for the following companies: Amicus Therapeutics Pty., Ltd., Catabasis, Genethon, Italfarmaco, NS Pharma, Pfizer, and PTC Therapeutics; reports royalties and other support from Sarepta Therapeutics; royalties for licensed technologies; other support from Novartis Gene Therapies; and advisory board for Biogen. KE has received personal compensation for serving on advisory boards and/or as a consultant for Ionis, Biogen, Acceleron, Fulcrum, Avidity, PTC, F. Hoffman-La Roche, and the Myotonic Dystrophy Foundation. KE has received personal compensation for serving as a speaker from Cure SMA, FSH Society, and Ology. She has received research/grant support from the CMTA. EM has served on medical advisory boards and/or consultant for Scholar Rock, F. Hoffman La Roche, Italfarmaco, Biogen, Sarepta, Novartis, Avexis, and PTC Therapeutics. KR provides consultancy services (training in clinical outcome measures and quality assurance implementation for clinical outcome assessments) for the following companies: ATOM International (under ATOM consultancy services provided to Amicus Therapeutics Pty., Ltd., Ascendis Pharma, BioMarin, Catabasis, FibroGen, Italfarmaco, NS Pharma, Pfizer, PTC Therapeutics, QED Therapeutics, Ltd., Sarepta Therapeutics, and Summit Pharmaceuticals International). KR also provides independent consultancy services to Biogen and F. Hoffman La Roche AG and receives payment for participation on Advisory Boards and publication steering committees and for assisting to deliver education initiatives for Biogen and F. Hoffman La Roche AG. LPL provides consultancy services through ATOM International for the following companies: Amicus Therapeutics Pty., Ltd., Catabasis, Genethon, Italfarmaco, NS Pharma, Pfizer, and PTC Therapeutics; reports royalties and other support from Sarepta Therapeutics; royalties for licensed technologies; other support from Novartis Gene Therapies; and advisory board for Biogen. AM provides consultancy services for the following companies: ATOM International (covers consultancy services provided to Amicus Therapeutics Pty., Ltd., Ascendis Pharma, Biomarin, Catabasis, Faraday, FibroGen, Genethon, Italfarmaco, NS Pharma, Pfizer, PTC Therapeutics, QED Therapeutics Ltd., Reveragen, and Sarepta Therapeutics). AM has received payment for participation on Advisory Boards for F. Hoffman La Roche AG, PTC Therapeutics. AM also provides independent consultancy services to Biogen and F. Hoffman La Roche AG. ME is Managing Director of ATOM International Limited and provides consultancy services for the following companies: Amicus Therapeutics Pty., Ltd., Ascendis Pharma, Biomarin, Catabasis, Capricor, Denali Therapeutics, Faraday, FibroGen Inc., Genethon, Italfarmaco, Lysogene, Modis, NS Pharma, Pfizer, PTC Therapeutics, QED Therapeutics, Ltd., Reveragen, Sarepta Therapeutics, and Solid Biosciences. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

**FIGURE 1**
Purpose of high quality Clinical outcome assessment (COA).

**FIGURE 2**
Levels of COA experience and knowledge.

See this image and copyright information in PMC

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Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases

Affiliations

Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

LinkOut - more resources

Full Text Sources