@article{52b591dfa9384a3fb8894369a6afb3b3,
title = "A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study",
abstract = "Introduction: X-linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few. Methods: RECENSUS is a multicenter chart review of male XLMTM patients characterizing disease burden and unmet medical needs. Data were collected between September 2014 and June 2016. Results: Analysis included 112 patients at six clinical sites. Most recent patient age recorded was ≤18 months for 40 patients and >18 months for 72 patients. Mean (SD) age at diagnosis was 3.7 (3.7) months and 54.3 (77.1) months, respectively. Mortality was 44% (64% ≤18 months; 32% >18 months). Premature delivery occurred in 34/110 (31%) births. Nearly all patients (90%) required respiratory support at birth. In the first year of life, patients underwent an average of 3.7 surgeries and spent 35% of the year in the hospital. Discussion: XLMTM is associated with high mortality, disease burden, and healthcare utilization. Muscle Nerve 57: 550–560, 2018.",
keywords = "X-linked myotubular myopathy, centronuclear myopathy, congenital myopathy, disease burden, natural history, retrospective chart review",
author = "Beggs, {Alan H.} and Byrne, {Barry J.} and {De Chastonay}, Sabine and Tmirah Haselkorn and Imelda Hughes and James, {Emma S.} and Kuntz, {Nancy L.} and Jennifer Simon and Swanson, {Lindsay C.} and Yang, {Michele L.} and Yu, {Zi fan} and Yum, {Sabrina W.} and Suyash Prasad",
note = "Funding Information: We thank the patients and families with XLMTM who allowed their data to be collected for the RECENSUS study, and are grateful for support from the XLMTM patient advocacy community: The Joshua Frase Foundation; MTM-CNM Family Connection; The Myo-tubular Trust; Where There{\textquoteright}s a Will There{\textquoteright}s A Cure Foundation for Myotubular Myopathy; and ZNM – Zusammen Stark! Thanks also to the Clinical Operations team at Audentes Therapeutics and IND2Results for assistance with data acquisition; Martin Childers and Mike O{\textquoteright}Callaghan for their advice on inclusion of key data elements; and Laurie LaRusso of Chestnut Medical Communications for medical writing support funded by Audentes Therapeutics. Data aggregation was also achieved through neuromuscular clinics supported by the Muscular Dystrophy Association (USA). Funding Information: We thank the patients and families with XLMTM who allowed their data to be collected for the RECENSUS study, and are grateful for support from the XLMTM patient advocacy community: The Joshua Frase Foundation; MTM-CNM Family Connection; The Myotubular Trust; Where There's a Will There's A Cure Foundation for Myotubular Myopathy; and ZNM ? Zusammen Stark! Thanks also to the Clinical Operations team at Audentes Therapeutics and IND2Results for assistance with data acquisition; Martin Childers and Mike O'Callaghan for their advice on inclusion of key data elements; and Laurie LaRusso of Chestnut Medical Communications for medical writing support funded by Audentes Therapeutics. Data aggregation was also achieved through neuromuscular clinics supported by the Muscular Dystrophy Association (USA). Ethical Publication Statement: We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines. Funding Information: Abbreviations: AAV, adeno-associated virus; BiPAP, bilevel positive airway pressure; CPAP, continuous positive airway pressure; CRF, case report form; IPPV, intermittent positive pressure ventilation; IRB, institutional review board; LOVD, Leiden Open Variation Database; SIMV, synchronized intermittent mechanical ventilation; XLMTM, X-linked myotubular myopathy Key words: centronuclear myopathy; congenital myopathy; disease burden; natural history; retrospective chart review; X-linked myotubular myopathy Funding: Support for subject ascertainment, enrollment, and data acquisition was provided by National Institutes of Health grant R01 AR044345 and Muscular Dystrophy Association (USA) grant MDA383249. Support for data entry and analysis was provided by Audentes Therapeutics. Publisher Copyright: {\textcopyright} 2017 The Authors Muscle & Nerve Published by Wiley Periodicals, Inc.",
year = "2018",
month = apr,
doi = "10.1002/mus.26018",
language = "English (US)",
volume = "57",
pages = "550--560",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",
number = "4",
}