Zobrazeno 1 - 10
of 456
pro vyhledávání: '"Barry J. Byrne"'
Autor:
Priya S. Kishnani, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz-Manera, Mazen M. Dimachkie, Hani Kushlaf, Tahseen Mozaffar, Mark Roberts, Benedikt Schoser, Noemi Hummel, Agnieszka Kopiec, Fred Holdbrook, Simon Shohet, Antonio Toscano, on behalf of the PROPEL Study Group
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 8, Iss 1, Pp 1-9 (2024)
Abstract Background Late-onset Pompe disease (LOPD), a rare autosomal recessive multisystemic disorder, substantially impacts patients’ day-to-day activities, outcomes, and health-related quality of life (HRQoL). The PROPEL trial compared cipagluco
Externí odkaz:
https://doaj.org/article/6c94129535e0439fa3e890c6a89ede54
Autor:
Barry J. Byrne, Giancarlo Parenti, Benedikt Schoser, Ans T. van der Ploeg, Hung Do, Brian Fox, Mitchell Goldman, Franklin K. Johnson, Jia Kang, Nickita Mehta, John Mondick, M. Osman Sheikh, Sheela Sitaraman Das, Steven Tuske, Jon Brudvig, Jill M. Weimer, Tahseen Mozaffar
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Enzyme replacement therapy (ERT) is the only approved disease-modifying treatment modality for Pompe disease, a rare, inherited metabolic disorder caused by a deficiency in the acid α-glucosidase (GAA) enzyme that catabolizes lysosomal glycogen. Fir
Externí odkaz:
https://doaj.org/article/80f9631db5ec471a9488eaff38c0f152
Autor:
Francesco Muntoni, Barry J. Byrne, Hugh J. McMillan, Monique M. Ryan, Brenda L. Wong, Juergen Dukart, Amita Bansal, Valerie Cosson, Roxana Dreghici, Maitea Guridi, Michael Rabbia, Hannah Staunton, Giridhar S. Tirucherai, Karl Yen, Xiling Yuan, Kathryn R. Wagner, the Taldefgrobep Alfa Study Group
Publikováno v:
Neurology and Therapy, Vol 13, Iss 1, Pp 183-219 (2024)
Abstract Introduction Duchenne muscular dystrophy (DMD) is a genetic muscle disorder that manifests during early childhood and is ultimately fatal. Recently approved treatments targeting the genetic cause of DMD are limited to specific subpopulations
Externí odkaz:
https://doaj.org/article/202c472942a04da4895185c648dc27dc
Autor:
Laurent Servais, Lindsey Lee Lair, Anne M. Connolly, Barry J. Byrne, Karen S. Chen, Vlad Coric, Irfan Qureshi, Susan Durham, Daniel J. Campbell, Grant Maclaine, Jackie Marin, Clifford Bechtold
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10273 (2024)
Spinal muscular atrophy (SMA) is a rare, genetic neurodegenerative disorder caused by insufficient production of survival motor neuron (SMN) protein. Diminished SMN protein levels lead to motor neuron loss, causing muscle atrophy and weakness that im
Externí odkaz:
https://doaj.org/article/d7a10014be99478c9be2a7d34b212786
B cell focused transient immune suppression protocol for efficient AAV readministration to the liver
Autor:
Jyoti Rana, Roland W. Herzog, Maite Muñoz-Melero, Kentaro Yamada, Sandeep R.P. Kumar, Anh K. Lam, David M. Markusic, Dongsheng Duan, Cox Terhorst, Barry J. Byrne, Manuela Corti, Moanaro Biswas
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 1, Pp 101216- (2024)
Adeno-associated virus (AAV) vectors are used for correcting multiple genetic disorders. Although the goal is to achieve lifelong correction with a single vector administration, the ability to redose would enable the extension of therapy in cases in
Externí odkaz:
https://doaj.org/article/dbfee83096ee41878357669ddf1b4522
Autor:
Shandra J. Trantham, Mackenzi A. Coker, Samantha Norman, Emma Crowley, Julie Berthy, Barry J. Byrne, Sub Subramony, XiangYang Lou, Manuela Corti
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 1, Pp 101179- (2024)
Gene therapy is a potential treatment for Friedreich ataxia, with multiple programs on the horizon. The purpose of this study was to collect opinions about gene therapy from individuals 14 years or older with Friedreich ataxia or parents/caregivers o
Externí odkaz:
https://doaj.org/article/f968620348454beeb01c65b48a304bd6
Autor:
Manuela Corti, Barry J. Byrne, Dominic J. Gessler, Grace Thompson, Samantha Norman, Jenna Lammers, Kirsten E. Coleman, Cristina Liberati, Melissa E. Elder, Maria L. Escolar, Ibrahim S. Tuna, Clementina Mesaros, Gary I. Kleiner, Deborah S. Barbouth, Heather L. Gray-Edwards, Nathalie Clement, Brian D. Cleaver, Guangping Gao
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 303-314 (2023)
Gene replacement therapy is a rational therapeutic strategy and clinical intervention for neurodegenerative disorders like Canavan disease, a leukodystrophy caused by biallelic mutations in the aspartoacylase (ASPA) gene. We aimed to investigate whet
Externí odkaz:
https://doaj.org/article/9c3eeeaf5a4542ada6da05e007811039
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101147- (2023)
The first generation of adeno-associated virus (AAV) vectors composed of the naturally occurring capsids and genomes, although effective in some instances, are unlikely to be optimal for gene therapy in humans. The use of the first generation of two
Externí odkaz:
https://doaj.org/article/ac8785c443034e108a8cac0109fe16e2
Autor:
Cristina Liberati, Barry J. Byrne, David D. Fuller, Chasen Croft, Teresa Pitts, Jessica Ehrbar, Carmen Leon-Astudillo, Barbara K. Smith
Publikováno v:
Frontiers in Rehabilitation Sciences, Vol 4 (2023)
IntroductionPompe disease is an inherited disease characterized by a deficit in acid-α-glucosidase (GAA), an enzyme which degrades lysosomal glycogen. The phrenic-diaphragm motor system is affected preferentially, and respiratory failure often occur
Externí odkaz:
https://doaj.org/article/292b7b39d47a4b3b81d7426c04bfa252
Publikováno v:
Viruses, Vol 15, Iss 12, p 2378 (2023)
Efficient and targeted delivery of a DNA payload is vital for developing safe gene therapy. Owing to the recent success of commercial oncolytic vector and multiple COVID-19 vaccines, adenovirus vectors are back in the spotlight. Adenovirus vectors ca
Externí odkaz:
https://doaj.org/article/5048d7ebbfa346a095adc3911ff3d32e