Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

Autor: Adrian Quartel MD, Paul R. Harmatz MD, Christina Lampe MD, Nathalie Guffon MD, David Ketteridge MD, Elisa Leão-Teles MD, Simon A. Jones MD, Roberto Giugliani MD, PhD

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)

Mucopolysaccharidosis VI (MPS VI) is a progressive lysosomal storage disorder with multiorgan and multisystemic pathology. Currently, galsulfase enzyme replacement therapy (ERT) is the only approved treatment for MPS VI. A cross-sectional survey stud

Externí odkaz: https://doaj.org/article/4a9c62a9950844ac9f3dbed541e62319

Immediate-release/extended-release amantadine (OS320) to treat Parkinson's disease with levodopa-induced dyskinesia: Analysis of the randomized, controlled ALLAY-LID studies

Autor: Olivier Rascol, Lars Tönges, Tina deVries, Mark Jaros, Adrian Quartel, David Jacobs, Jean-Philippe Azulay, Ernest Balaguer, Perminder Bhatia, Ivan Bodis-Wollner, Paul Brownstone, Nicolas Boulloche, Gerald J. Calegan, Giovanni Castelnovo, Kelvin L. Chou, Jean-Christophe Corvol, Fabio Danisi, Luc Defebvre, Lydia Vela Desojo, Franck Durif, Reinhard Ehret, Bradley K. Evans, Concetta Forchetti, Joseph H. Friedman, Wolfgang Fogel, Matilde Calopa Garniga, Ramon A. Gil, Paul L. Ginsberg, Mark R. Glasberg, Alida Griffith, Jeffrey W. Groves, Mark Gudesblatt, Neal Hermanowicz, Maria A. Herrera, Jean-Luc Houeto, Robert M. Hutchman, Stuart H. Isaacson, Singar Jagadeesan, Mandar Jog, Andrew Keegan, Fabian Klostermann, Pierre Krystkowiak, Jaime Kulisevsky Bojarsky, Rajeev Kumar, Dennis Lacey, Bruce Lasker, John LaVaccare, Michelle M. Lavallee, Maria Rosario Luquin Piudo, Andreas Mahler, Maria José Martí Domenech, Juan Carlos Martinez Castrillo, Laszlo J. Mate, Tilak Mendis, Leonard Verhagen Metman, Siegfried Martin Muhlack, Thomas Müller, Ariane Park, James Patton, Elizabeth Peckham, Francisco Grandas Pérez, Marcie Rabin, Gerd Reifschneider, Philippe Remy, Pablo Mir Rivera, Johannes Schwarz, Isabelle Roullet-Solignac, Gabriel Salazar, Stephen M. Sergay, Scott Sherman, Richard Shubin, Lorraine Spikol, Frank Steigerwald, Daniel D. Truong, Antonio Ugarte, Francisco Vivancos Matellano, Arnold Witte, Theresa Zesiewicz, Sarah Elizabeth Zauber

Publikováno v: Parkinsonismrelated disorders. 96

Immediate-release (IR) amantadine has been used for treatment of levodopa induced dyskinesia (LID). The immediate-release/extended-release (IR/ER) amantadine formulation OS320 (OSMOLEX ER®) contains an IR outer layer and ER core for once-daily dosin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e400f18e2a2737bd0b1b24fdaa997460
https://pubmed.ncbi.nlm.nih.gov/35227940

Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease

Autor: Mark Roberts, Kenneth I. Berger, Erin M. Johnson, Peter Young, Adrian Quartel, Tahseen Mozaffar

Publikováno v: Neuromuscular Disorders. 26(2):136-145

In patients with Late-Onset Pompe Disease (LOPD), progressive respiratory muscle involvement leads to reduced pulmonary function, with respiratory failure the most common cause of mortality. Early disease manifestations include sleep-disordered breat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4a620ddb16601712aa247391fc7798f

Clinical outcomes in a subpopulation of adults with Morquio A syndrome : results from a long-term extension study of elosulfase alfa

Autor: Roberto Giugliani, Derralynn Hughes, Karl Eugen Mengel, Rossella Parini, Sara M. Hawley, Adrian Quartel, Simon Jones, Robert Matousek, Nathalie Guffon

Publikováno v: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Orphanet Journal of Rare Diseases
Hughes, D, Giugliani, R, Guffon, N, Jones, S A, Mengel, K E, Parini, R, Matousek, R, Hawley, S M & Quartel, A 2017, ' Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa ', Orphanet Journal of Rare Diseases, vol. 12, no. 1 . https://doi.org/10.1186/s13023-017-0634-0
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)

Background This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 years of age evaluated in a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ded2d8ce02448156b6d2cfe3e81b0fa9

A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences

Autor: Adrian Quartel, Haoling H. Weng, Sumitra SriBhashyam, Janet A. Thomas, Roberto T. Zori, Nicola Longo, Ari Gershman, Kevin Marsh

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)

Background: Phenylketonuria (PKU) leads to an accumulation of phenylalanine (Phe) in the blood and subsequent neurologic, cognitive, psychiatric, and behavioral dysfunction. Many patients report social isolation and decreased quality of life. Pegvali

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef4ee91074400e82180a25d4f108323b
https://doi.org/10.1016/j.ymgmr.2019.100507