• Publication

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

Christian J. Hendriksz, Barbara Burton, Thomas R. Fleming, Paul Harmatz, Derralynn Hughes, Simon A. Jones, Shuan-Pei Lin, Eugen Mengel, Maurizio Scarpa, Vassili Valayannopoulos, Roberto Giugliani, STRIVE Investigators, Peter Slasor, Debra Lounsbury, Wolfgang Dummer

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News

• Publication

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

P. Harmatz, C.J. Hendriksz, C. Lampe , J.J. McGill, R. Parini, E. Leão-Teles, V. Valayannopoulos , T.J. Cole , R. Matousek, S. Graham , N. Guffon, A. Quartel, MPS VI Study Group

• Leadership Profile

Brian R. Mueller

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Board of Directors

• Publication

Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

Julie Hoover-Fong, Moira S. Cheung, Virginia Fano, Lars Hagenas, Jacqueline T. Hecht, Penny Ireland, Melita Irving, Klaus Mohnike, Amaka C. Offiah, Ericka Okenfuss, Keiichi Ozono, Cathleen Raggio, Louise Tofts, Dominique Kelly, Renée Shediac, Wayne Pan, Ravi Savarirayan

• Publication

Two-Year Outcomes of Valoctocogene Roxaparvovec Therapy for Hemophilia A

Johnny Mahlangu, M.B., B.Ch., M.Med., Radoslaw Kaczmarek, Ph.D., Annette von Drygalski, M.D., Pharm.D., Susan Shapiro, M.D., Ph.D., Sheng-Chieh Chou, M.D., Margareth C. Ozelo, M.D., Ph.D., Gili Kenet, M.D., Flora Peyvandi, M.D., Ph.D., Michael Wang, M.D., Bella Madan, M.D., Nigel S. Key, M.D., Michael Laffan, D.M., Ph.D., et al., for the GENEr8-1 Trial Group*

• Publication

Valoctogene Roxaparvovec Gene Therapy for Hemophilia A

Margareth C. Ozelo, M.D., Ph.D., Johnny Mahlangu, M.B., B.Ch., M.Med., K. John Pasi, M.D., Ph.D., Adam Giermasz, M.D., Ph.D., Andrew D. Leavitt, M.D., Michael Laffan, M.D., Ph.D., Emily Symington, M.D., Doris V. Quon, M.D., Ph.D., Jiaan-Der Wang, M.D., Ph.D., Kathelijne Peerlinck, M.D., Ph.D., Steven W. Pipe, M.D., Bella Madan, M.D., et al., for the GENEr8-1 Trial Group*

• Publication

Interindividual variability in transgene mRNA and protein production following adeno-associated virus gene therapy for Hemophilia A

Sylvia Fong, Bridget Yates, Choong-Ryoul Sihn, Aras N. Mattis, Nina Mitchell, Su Liu, Chris B. Russel, Benjamin Kim, Adebayo Lawal, Savita Rangarajan, Will Lester, Stuart Bunting, Glenn F. Pierce, K. John Pasi and Wing Yen Wong

• Publication

Molecular analysis of AAV5-hFVIII-SQ vector-genome-processing kinetics in transduced mouse and nonhuman primate livers

Choong-Ryoul Sihn, Britta Handyside, Su Liu, Lening Zhang, Ryan Murphy, Bridget Yates, Lin Xie, Richard Torres, Chris B. Russel, Charles A. O’Neill, Erno Pungor, Stuart Bunting, Sylvia Fong.

• Publication

Assessing the potential cost-effectiveness of a gene therapy for the treatment of hemophilia A

Keziah Cook, Shaun P. Forbes, Kelly Adamski, Janice J. Ma, Anita Chawla & Louis P. Garrison Jr

• Publication

Deciphering conundrums of adeno-associated virus liver-directed gene therapy: focus on hemophilia

Glenn F. Pierce, Sylvia Fong, Brian R. Long, Radoslaw Kaczmarek

• Publication

The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

Paul Harmatz, Karl Eugen Mengel, Roberto Giugliani, Vassili Valayannopoulos, Shuan-Pei Lin, Rossella Parini, Nathalie Guffon, Barbara K. Burton, Christian J. Hendriksz, John Mitchell, Ana Martins, Simon Jones, Norberto Guelbert, Ashok Vellodi, Carla Hollak, Peter Slasor, Celeste Decker

• Publication

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

Christian J. Hendriksz, Rossella Parini, Moeenaldeen D. AlSayed, Julian Raiman, Roberto Giugliani, Martha L. Solano Villarreal, John J. Mitchell, Barbara K. Burton, Norberto Guelbert, Fiona Stewart, Derralynn A. Hughes, Kenneth I. Berger, Peter Slasor m, Robert Matousek, Elaina Jurecki, Adam J. Shaywitz, Paul R. Harmatz

• Publication

Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial

Christian J. Hendriksz, Roberto Giugliani, Paul Harmatz, Eugen Mengel, Nathalie Guffon, Vassili Valayannopoulos, Rossella Parini, Derralynn Hughes, Gregory M. Pastores, Heather A. Lau, Moeenaldeen D. Al-Sayed, Julian Raiman, STRIVE Investigators, Ke Yang, Matthew Mealiffe, Christine Haller

• Publication

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Christina Lampea, Paul R. Harmatz, Rossella Parinic, Reena Sharmae, Elisa Leão Telesf, Julie Johnsong, Debbie Sivamg, Zlatko Sisic

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Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy

Paula Garcia, Dawn Phillips, JoAnn Johnson, Kenneth Martin, Linda M. Randolph, Howard Rosenfeld, Paul Harmatz

• Publication

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Michael Fietz, Moeenaldeen AlSayed, Derek Burke, Jessica Cohen-Pfeffer, Jonathan D. Cooper, Lenka Dvořáková, Roberto Giugliani, Emanuela IzzO, Helena Jahnová, Zoltan Lukacs, Sara E. Mole, Ines Noher de Halac, David A. Pearce, Helena Poupetova, Angela Schulz, Nicola SpecchiO, Winnie Xin, Nicole Miller

• Publication

Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics

Emily de los Reyes, MD, Lenora Lehwald, MD, Erika F. Augustine, MD, MS, Elizabeth Berry-Kravis, MD, PhD, Karen Butler, BSN, RN, Natalie Cormier, MSN, Scott Demarest, MD, Sam Lu, MD, Jacqueline Madden, RN, PNP, Joffre Olaya, MD, Susan See, MSN, Amy Vierhile, DNP, RN, James W. Wheless, BPharm, MD, Amy Yang, MD, Jessica Cohen-Pfeffer, MD, Dorna Chu, PharmD, Fernanda Leal-Pardinas, MD, Raymond Y. Wang, MD

• Publication

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

Nicola Specchio, Nicola Pietrafusa, Marina Trivisano