Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance.
Duong, Tina; Harding, Gale; Mannix, Sallyet al.
2021 • In Journal of Neuromuscular Diseases, 8 (1), p. 63-77
[en] X-linked myotubular myopathy (XLMTM) is a life-threatening, congenital myopathy characterized by extreme hypotonia, weakness, delayed motor milestones, and respiratory failure, often resulting in pediatric mortality. This study evaluated the content validity and psychometric performance of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders as a measure of neuromuscular functioning in children with X-linked myotubular myopathy. This study was conducted in two phases. Phase I assessed the content validity of the measure for use in an XLMTM pediatric population through: literature review, clinical expert interviews, caregiver interviews, and a modified-Delphi panel among clinicians. Phase II assessed psychometric performance based on the INCEPTUS observational clinical study and the ASPIRO interventional gene therapy study, including tests of reliability (internal consistency, test-retest, and interrater), validity (construct and criterion), and responsiveness based on observational and interventional clinical trial data analyses. Data established construct validity and reliability of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders among XLMTM patients before administration of resamirigene bilparvovec, and sensitivity to study drug administration as evidenced by the significant post-administration response in ASPIRO. Findings support the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders as an appropriate neuromuscular functioning assessment in a pediatric X-linked myotubular myopathy patient population.
Disciplines :
Neurology Pediatrics
Author, co-author :
Duong, Tina
Harding, Gale
Mannix, Sally
Abel, Cristina
Phillips, Dawn
Alfano, Lindsay N.
Bönnemann, Carsten G.
Lilien, Charlotte
Lowes, Linda P.
Servais, Laurent ; Centre Hospitalier Universitaire de Liège - CHU > Département de Pédiatrie > Service de pédiatrie
Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance.
Beggs AH, Byrne BJ, De Chastonay S, Haselkorn T, Hughes I, James ES, et al. A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. Muscle Nerve. 2018; 57(4): 550-60. 10. 1002/mus. 26018.
McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, et al. Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord. 2002; 12(10): 939-46.
National Organization for Rare Disorders (NORD). Rare Disease Database. X-Linked Myotubular Myopathy., https://rarediseases. org/rare-diseases/x-linked-myotubularmyopathy/; 2017 [accessed 27 February 2019].
Lawlor MW, Beggs AH, Buj-Bello A, Childers MK, Dowling JJ, James ES, et al. Skeletal Muscle Pathology in XLinked Myotubular Myopathy: ReviewWith Cross-Species Comparisons. J Neuropathol Exp Neurol. 2016; 75(2): 102-10. 10. 1093/jnen/nlv020.
U. S. National Library of Medicines (NLM). X-linked myotubular myopathy. Health Conditions. Causes., https://ghr. nlm. nih. gov/condition/x-linked-myotubular-myopathy #genes; 2017 [accessed 27 February 2019].
Amburgey K, Tsuchiya E, de Chastonay S, Glueck M, Alverez R, Nguyen CT, et al. A natural history study of X-linked myotubular myopathy. Neurology. 2017; 89(13): 1355-64. 10. 1212/WNL. 00000000000044150
Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, et al. X-linked myotubular myopathy: A prospective international natural history study. Neurology. 2019; 92(16): e1852-e1867.
Powers JH, 3rd, Patrick DL, Walton MK, Marquis P, Cano S, Hobart J, et al. Clinician-Reported Outcome Assessments of Treatment Benefit: Report of the ISPOR Clinical Outcome Assessment Emerging Good Practices Task Force. Value Health. 2017; 20(1): 2-14. 10. 1016/j. jval. 2016. 11. 005
European Medicines Agency (EMA). Reflection Paper on the Regulatory Guidance for the use of Health Related Quality of Life (HRQL) Measure in the Evaluation of Medicinal Products, 2005 [accessed].
Food and Drug Administration (FDA). Guidance for Industry. Patient-reported outcome measures: Use in medical product development to support labeling claims. Fed Regist. 2009; 7465132-65133.
GlanzmanAM, Mazzone E, Main M, Pelliccioni M, Wood J, Swoboda KJ, et al. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability. Neuromuscul Disord. 2010; 20(3): 155-61. 10. 1016/j. nmd. 2009. 11. 014
Glanzman AM, McDermott MP, Montes J, Martens WB, Flickinger J, Riley S, et al. Validation of the Children's Hospital of Philadelphia InfantTest of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther. 2011; 23(4): 322-6. 10. 1097/PEP. 0b013e3182351f04
Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, et al. Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Ann Clin Transl Neurol. 2016; 3(2): 132-45. 10. 1002/acn3. 283
Lowes L, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac L, Prior TW, et al. AVXS-101 Phase 1 Gene Therapy Clinical Trial in SMA Type 1: Correlation between CHOPINTEND and Motor Milestone achievements (S13. 002). Neurology. 2017; 88(16 Supplement): S13. 002.
Patrick DL, Burke LB, Gwaltney CJ, Leidy NK, Martin ML, Molsen E, et al. Content validity-establishing and reporting the evidence in newly developed patient-reported outcomes (PRO) instruments for medical product evaluation: ISPOR PRO good research practices task force report: Part 1-eliciting concepts for a new PRO instrument. Value Health. 2011; 14(8): 967-77. 10. 1016/j. jval. 2011. 06. 014
Patrick DL, Burke LB, Gwaltney CJ, Leidy NK, Martin ML, Molsen E, et al. Content validity-establishing and reporting the evidence in newly developed patient-reported outcomes (PRO) instruments for medical product evaluation: ISPOR PRO Good Research Practices Task Force report: Part 2-assessing respondent understanding. Value Health. 2011; 14(8): 978-88. 10. 1016/j. jval. 2011. 06. 013
Murphy MK, BlackNA, Lamping DL, McKee CM, Sanderson CF, Askham J, et al. Consensus development methods, and their use in clinical guideline development. HealthTechnol Assess. 1998; 2(3): i-iv, 1-88.
Dalkey NC. The Delphi Method: An experimental study of group opinion. Santa Monica, CA: The Rand Corporation. RM-58888-PR; 1969
Eubank BH, Mohtadi NG, Lafave MR, Wiley JP, Bois AJ, Boorman RS, et al. Using the modified Delphi method to establish clinical consensus for the diagnosis and treatment of patients with rotator cuff pathology. BMC Med Res Methodol. 2016; 1656. 10. 1186/s12874-016-0165-8
de Lattre C, Payan C, Vuillerot C, Rippert P, de Castro D, Berard C, et al. Motor function measure: Validation of a short form for young children with neuromuscular diseases. Arch Phys Med Rehabil. 2013; 94(11): 2218-2226. 10. 1016/j. apmr. 2013. 04. 001
Gaultier C, Zinman R. Maximal static pressures in healthy children. Respir Physiol. 1983; 51(1): 45-61.
Wilson SH, Cooke NT, Edwards RH, Spiro SG. Predicted normal values for maximal respiratory pressures in caucasian adults and children. Thorax. 1984; 39(7): 535-8.
Hays R, Revicki DA. Reliability and validity (including responsiveness). In: Fayers P, Hays R, eds. Assessing Quality of Life in Clinical Trials. 2 ed. New York, NY: Oxford University Press; 2005.
Abath O, Silva MR, Pesquero JB, Oliveira ASB, Carvalho M, Chadi G, et al. C. P. 11 Centronuclear and myotubular myopathies: Clinical, histological and molecular findings in a large series of Brazilian patients. Neuromuscular Disorders. 2012; 22(9-10): 844. https://doi. org/10. 1016/j. nmd. 2012. 06. 139
Akiyama C, Nonaka I. Afollow-up study of congenital nonprogressive myopathies. Brain Dev. 1996; 18(5): 404-8.
Amburgey K, Julian D, Howell E, Britt M, Dowling JJ. The natural history of myotubular myopathy, summary of the first year of enrollment. Neuromuscular Disorders. 2013; 23(9-10): 761.
Fattori F, Maggi L, Bruno C, Codemo V. P. 9. 15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies. Neuromuscular Disorders. 2013; 23(9-10): 788.
Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr. 1999; 134(2): 206-214.
Maggi L, Scoto M, Cirak S, Robb SA, Klein A, Lillis S, et al. Congenital myopathies-clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord. 2013; 23(3): 195-205. 10. 1016/j. nmd. 2013. 01. 004
Pierson CR, Agrawal PB, Blasko J, Beggs AH. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord. 2007; 17(7): 562-8. 10. 1016/j. nmd. 2007. 03. 010
R'guiba N, Annoussamy M, Cardas R, Lilien C, Ollivier G, Muntoni F, et al. Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study. Neuromuscul Disord. 2015; 25(2): S274. https://doi. org/10. 1016/j. nmd. 2015. 06. 320
Smith BK, Renno MS, Green MM, Sexton TM, Lawson LA, Martin AD, et al. Respiratory motor function in individuals with centronuclear myopathies. Muscle Nerve. 2016; 53(2): 214-21. 10. 1002/mus. 24899
Thaha F, Gayathri N, Nalini A. Congenital myopathies: Clinical and immunohistochemical study. Neurol India. 2011; 59(6): 879-83. 10. 4103/0028-3886. 91369
Weiss K, Shapira Y, Glick B, Lerman-Sagie T, Shahar E, Goez H, et al. Congenital myopathies in Israeli families. J Child Neurol. 2007; 22(6): 732-6. 10. 1177/0883073807304193
Yu S, Manson J, White S, Bourne A, Waddy H, Davis M, et al. X-linked myotubular myopathy in a family with three adult survivors. Clin Genet. 2003; 64(2): 148-52.
PNCR Network for SMA. CHOP INTEND Manual of Procedures, https://www. musculardystrophyuk. org/app/uploads/2017/06/CHOP-INTEND Manual. pdf; 2017 [accessed 21 August 2017]
Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014; 83(9): 810-17. 10. 1212/WNL. 0000000000000741
Food and Drug Administration (FDA). Rare Diseases: Common Issues in Drug Development Guidance for Industry. Draft Guidance, https://www. fda. gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/UCM458485. pdf; 2015 [accessed 14 September 2018]
Brazelton TB, Nugent KJ. Neonatal Behavioral Assessment Scale. 3 ed. London: Spastics International Medical Publications; 1995.
Cagan E, Peker E, Dogan M, Caksen H. Infant botulism. Eurasian J Med. 2010; 42(2): 92-4. 10. 5152/eajm. 2010. 25
Muscular Dystrophy Association (MDA). Congenital Myopathies. Centronuclear myopathies, including myotubular myopathy., https://www. mda. org/disease/co ngenital-myopathies/types/centronuclear-myotubular; [accessed 27 February 2019]
National Organization for Rare Disorders (NORD). Rare Disease Database. Nemaline Myopathy., https://raredisea ses. org/rare-diseases/nemaline-myopathy/; 2018 [accessed 27 February 2019]
U. S. National Library of Medicines (NLM). Health Conditions. Central core disease. https://ghr. nlm. nih. gov/condition/central-core-disease; 2018 [accessed 27 Febuary 2019]
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017; 377(18): 1723-32. 10. 1056/NEJMoa1702752
Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017; 377(18): 1713-22. 10. 1056/NEJMoa1706198
Kichula E, Duong, T, Glanzman A, Pasternak A, Finkel R, Darras D, et al. Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) feasibility for individuals with severe spinal muscular atrophy II. Neurology. 2018; 90(15 Suppl) S46. 004.
Finkel RS, Chiriboga CA, Vajsar J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: A phase 2, open-label, dose-escalation study. Lancet. 2016; 388: 3017-26.
