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INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy
Authors
LN Alfano
AH Beggs
+33 more
DA Bilder
A Blaschek
CG Bönnemann
S Christensen
J Coats
JJ Dowling
T Duong
C Finlay
RJ Graham
M Jain
ES James
NL Kuntz
MW Lawlor
J Lee
C Lilien
LP Lowes
V MacBean
W Miller
F Muntoni
W Müller-Felber
S Neuhaus
M Noursalehi
T Pitts
S Prasad
G Rafferty
S Rico
AM Seferian
B Sepulveda
L Servais
PB Shieh
BK Smith
E Tsuchiya
MC Vila
Publication date
7 June 2022
Publisher
'IOS Press'
Doi
Abstract
Supplementary Material: The supplementary material is available in the electronic version of this article: https://doi.org/10.3233/JND-210871.Copyright © 2022 The authors. Background X-linked myotubular myopathy (XLMTM) is a life-threatening congenital myopathy that, in most cases, is characterized by profound muscle weakness, respiratory failure, need for mechanical ventilation and gastrostomy feeding, and early death. Objective We aimed to characterize the neuromuscular, respiratory, and extramuscular burden of XLMTM in a prospective, longitudinal study. Methods Thirty-four participants 16 hours/day); 20% required non-invasive support (6–16 hours/day). Median age at tracheostomy was 3.5 months (95% CI: 2.5, 9.0). Thirty-three participants (97%) required gastrostomy. Thirty-one (91%) participants had histories of hepatic disease and/or prospectively experienced related adverse events or laboratory or imaging abnormalities. CHOP INTEND scores ranged from 19–52 (mean: 35.1). Seven participants (21%) could sit unsupported for≥30 seconds (one later lost this ability); none could pull to stand or walk with or without support. These parameters remained static over time across the INCEPTUS cohort. Conclusions INCEPTUS confirmed high medical impact, static respiratory, motor and feeding difficulties, and early death in boys with XLMTM. Hepatobiliary disease was identified as an under-recognized comorbidity. There are currently no approved disease-modifying treatments.The INCEPTUS and ASPIRO studies are sponsored by Astellas Gene Therapies
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Last time updated on 11/07/2022