International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA

Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23:185–8.

Article  CAS  PubMed  Google Scholar 

Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, de Klerk N, Leonard H. Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res. 2011;70:313–9.

Article  PubMed  PubMed Central  Google Scholar 

Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK. The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. Am J Med Genet B Neuropsychiatr Genet. 2019;180:55–67.

Article  CAS  PubMed  Google Scholar 

Fagiolini M, Patrizi A, LeBlanc J, Jin LW, Maezawa I, Sinnett S, Gray SJ, Molholm S, Foxe JJ, Johnston MV, Naidu S, Blue M, Hossain A, Kadam S, Zhao X, Chang Q, Zhou Z, Zoghbi H. intellectual and developmental disabilities research centers: a multidisciplinary approach to understand the pathogenesis of Methyl-CpG binding protein 2-related disorders. Neuroscience. 2020;445:190–206.

Article  CAS  PubMed  Google Scholar 

Neul J, Kaufmann W, Glaze D, Christodoulou J, Clarke A, Bahi-Buisson N, Leonard H, Bailey M, Schanen N, Zappella M, Renieri A, Huppke P, Percy AK. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68:944–50.

Article  PubMed  PubMed Central  Google Scholar 

Leonard H, Cobb S, Downs J. Clinical and biological progress over 50 years in Rett syndrome. Nat Rev Neurol. 2017;13:37–51.

Article  CAS  PubMed  Google Scholar 

Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Lane J, Dinkel T, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T. Multisystem comorbidities in classic Rett syndrome: a scoping review. BMJ Paediatr Open. 2020;4:e000731.

Article  PubMed  PubMed Central  Google Scholar 

Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology. 2008;70:868–75.

Article  CAS  PubMed  Google Scholar 

Cuddapah V, Pillai R, Shekar K, Lane J, Motil K, Skinner S, Tarquinio D, Glaze D, McGwin G, Kaufmann W, Percy A, Neul J, Olsen M. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J Med Genet. 2014;51:152–8.

Article  CAS  PubMed  Google Scholar 

Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008;70:1313–21.

Article  CAS  PubMed  Google Scholar 

Halbach NS, Smeets EE, van den Braak N, van Roozendaal KE, Blok RM, Schrander-Stumpel CT, Frijns JP, Maaskant MA, Curfs LM. Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. Am J Med Genet A. 2012;158:340–50.

Article  Google Scholar 

Leonard H, Gold W, Samaco R, Sahin M, Benke T, Downs J. Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome. Orphanet J Rare Dis. 2022;17:108.

Article  PubMed  PubMed Central  Google Scholar 

Newron Pharmaceuticals. Newron Reports Top-Line Results From Its STARS Study Evaluating Sarizotan in Patients With Rett Syndrome. https://www.newron.com/news-and-media/regulatory-news/newron-reports-top-line-results-its-stars-study-evaluating-sarizotan .Accessed 15 Apr 2023.

Neul JL, Percy AK, Benke TA, Berry-Kravis E, M., Glaze DG, Marsh ED, Lin T, Stankovic S, Bishop KM, Youakim JM. Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study. Nat Med. 2023;29:1468–75.

O’Leary HM, Kaufmann WE, Barnes KV, Rakesh K, Kapur K, Tarquinio DC, Cantwell NG, Roche KJ, Rose SA, Walco AC, Bruck NS, Bazin GA, Holm IA, Alexander ME, Swanson LC, Torres JMM, Nelson CA III, Sahin M. Placebo controlled crossover efficacy assessment of Mecasermin for the treatment of Rett syndrome. Ann Clin Transl Neurol. 2018;5:323–32.

Article  PubMed  PubMed Central  Google Scholar 

Naegelin Y, Kuhle J, Schädelin S. Fingolimod in children with Rett syndrome: the FINGORETT study. Orphanet J Rare Dis. 2021;16:19.

Article  PubMed  PubMed Central  Google Scholar 

Neul JL, Percy AK, Benke TA, Berry-Kravis EM, Glaze DG, Peters SU, Marsh ED, An D, Bishop KM, Youakim JM. Trofinetide treatment demonstrates a benefit over placebo for the ability to communicate in Rett syndrome. Pediatr Neurol. 2024;152:63–72.

Article  PubMed  Google Scholar 

Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Improved diagnosis and care for rare diseases through implementation of precision public health framework. Adv Exp Med Biol. 2017;1031:55–94.

Erickson CA, Kaufmann WE, Budimirovic DB, Lachiewicz A, Haas-Givler B, Miller RM, Weber JD, Abbeduto L, Hessl D, Hagerman RJ, Berry-Kravis E. Best practices in fragile X syndrome treatment development. Brain Sci. 2018;8(12):224. https://doi.org/10.3390/brainsci8120224.

Thompson R, Robertson A, Lochmüller H. Natural history, trial readiness and gene discovery: advances in patient registries for neuromuscular disease. Adv Exp Med Biol. 2017;1031:97–124.

Article  PubMed  Google Scholar 

Coenraads M, Von Hen J, Frank T, Kennedy M, Pichard DC, Palaty C. Voice of the patient report: Rett syndrome externally-led patient-focused drug development meeting. 2022. https://rettpfdd.org/site/assets/files/1/2022-rett-syndrome-voice-of-the-patient-report.pdf. Access 13 Dec 2024.

Neul JL, Benke TA, Marsh ED, Suter B, Silveira L, Fu C, Peters SU, Percy AK. Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study. J Neurodevelopmental disorders 2023;15.

Food and Drug Administration. Incorporating Clinical Outcome Assessments into Endpoints for Regulatory Decision-Making. US Department of Health and Human Services; 2023. https://fda.gov/regulatory-information/search-fda-guidance-documents/patient-focused-drug-development-incorporatingclinical-outcome-assessments-endpoints-regulatory. Accessed 13 Dec 2024.

Food and Drug Administration. Patient-Focused Drug Development: Collecting Comprehensive and Representative Input,. US Department of Health and Human Services; 2020. https://fda.gov/media/139088/download. Accessed 13 Dec 2024.

Food and Drug Administration. Patient-focused drug development: Methods to identify what is important to patients. US Department of Health and Human Services; 2022. https://fda.gov/media/131230/download. Accessed 13 Dec 2024.

Food and Drug Adminstration. Patient-Focused Drug Development: Incorporating Clinical Outcome Assessments Into Endpoints for Regulatory Decision-Making, draft guidance. US Department of Health and Human Services; 2023. https://fda.gov/regulatory-information/search-fda-guidance-documents/patient-focused-drug-development-incorporatingclinical-outcome-assessments-endpoints-regulatory. Accessed 13 Dec 2024.

Kaufmann WE, Stallworth JL, Everman DB, Skinner SA. Neurobiologically-based treatments for Rett syndrome: opportunities and challenges. Expert Opin Orphan Drugs. 2016;4:1043–55.

Article  PubMed  PubMed Central  Google Scholar 

Lotan M, Downs J, Stahlhut M, Romano A. Evaluation tools developed for Rett syndrome. Diagnostics. 2023;13:1708.

Article  PubMed  PubMed Central  Google Scholar 

Percy AK, Neul JL, Benke TA, Marsh ED, Glaze DG. A review of the Rett Syndrome Behaviour Questionnaire and its utilization in the assessment of symptoms associated with Rett syndrome. Front Pediatr. 2023;11:1229553.

Article  PubMed  PubMed Central  Google Scholar 

Inductive KH, Analysis C. In: Kyngäs H, Mikkonen K, Kääriäinen M, editors. The Application of Content Analysis in Nursing Science Research. Cham: Springer International Publishing; 2020. p. 13–21.

Google Scholar 

Prinsen CAC, Mokkink LB, Bouter LM, Alonso J, Patrick DL, de Vet HCW, Terwee CB. COSMIN guideline for systematic reviews of patient-reported outcome measures. Qual Life Res. 2018;27:1147–57.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mokkink LB, de Vet HCW, Prinsen CAC, Patrick DL, Alonso J, Bouter LM, Terwee CB. COSMIN Risk of Bias checklist for systematic reviews of Patient-Reported Outcome Measures. Qual Life Res. 2018;27:1171–9.

Article  CAS  PubMed  Google Scholar 

Singh J, Fiori F, Law ML, Ahmed R, Ameenpur S, Basheer S, Chishti S, Lawrence R, Mastroianni M, Mosaddegh A, Santosh P. Development and Psychometric Properties of the Multi-System Profile of Symptoms Scale in Patients with Rett Syndrome. J Clin Med. 2022;11:5094.

Article  PubMed  PubMed Central  Google Scholar 

Reeve BB, Lucas N, Chen D, McFatrich M, Jones HN, Gordon KL, Leiva LZ, Lin L, Coenraads M, von Hehn J, Carpenter RL, Marsh ED, Zigler CK. Validation of the Observer-Reported Communication Ability (ORCA) measure for individuals with Rett syndrome. Eur J Paediatr Neurol. 2023;46:74–81.

Article  PubMed  Google Scholar 

Oberman LM, Leonard H, Downs J, Cianfaglione R, Stahlhut M, Larsen JL, Madden KV, Kaufmann WE. Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure. Am J Intellect Dev Disabil. 2023;128:237–53.

Article  PubMed  Google Scholar 

Downs J, Jacoby P, Leonard H, Epstein A, Murphy N, Davis E, Reddihough D, Whitehouse A, Williams K. Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure. Qual Life Res. 2019;28:783–94.

Article  PubMed  Google Scholar 

Lane JB, Salter AR, Jones NE, Cutter G, Horrigan J, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Assessment of Caregiver Inventory for Rett Syndrome. J Autism Dev Disord. 2017;47:1102–12.

Article  PubMed  PubMe

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