Results 11 to 20 of about 676 (154)

Role of elosulfase alfa in mucopolysaccharidosis IVA [PDF]

The Application of Clinical Genetics, 2016
Debra S Regier, Pranoot Tanpaiboon Division of Genetics and Metabolism, Children’s National Medical Center, Washington, DC, USA Abstract: Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease
Regier DS, Tanpaiboon P
doaj   +6 more sources

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome. [PDF]

J Inherit Metab Dis, 2016
OBJECTIVE: To present long-term respiratory function outcomes from an open-label, multi-center, phase 3 extension study (MOR-005) of elosulfase alfa enzyme replacement therapy (ERT) in patients with Morquio A syndrome.
Hendriksz CJ, Berger KI, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart F, Hughes DA, Matousek R, Jurecki E, Decker C, Harmatz PR.   +14 more
europepmc   +10 more sources

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study. [PDF]

Am J Med Genet A, 2017
Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test.
Harmatz PR, Mengel E, Geberhiwot T, Muschol N, Hendriksz CJ, Burton BK, Jameson E, Berger KI, Jester A, Treadwell M, Sisic Z, Decker C.   +11 more
europepmc   +8 more sources

Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time [PDF]

Genetics in Medicine Open
Purpose: To assess the real-world effectiveness of enzyme replacement therapy (ERT; elosulfase alfa) on endurance in the treatment of mucopolysaccharidosis type IVA (MPS IVA) using cross-sectional data. Methods: The 6-minute walk test (6MWT) distances of
Barbara K. Burton, Karolina M. Stepien, Philippe M. Campeau, Jaim Sutton, Abigail Hunt, Pascal Reisewitz, David Hinds   +6 more
doaj   +3 more sources

Pharmacokinetic and pharmacodynamic evaluation of elosulfase alfa, an enzyme replacement therapy in patients with Morquio A syndrome. [PDF]

Clin Pharmacokinet, 2014
BACKGROUND AND OBJECTIVES: Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase, an enzyme required for degradation of the glycosaminoglycan keratan sulfate ...
Qi Y, Musson DG, Schweighardt B, Tompkins T, Jesaitis L, Shaywitz AJ, Yang K, O'Neill CA.   +7 more
europepmc   +5 more sources

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. [PDF]

J Inherit Metab Dis, 2014
ObjectiveTo assess the efficacy and safety of enzyme replacement therapy (ERT) with BMN 110 (elosulfase alfa) in patients with Morquio A syndrome (mucopolysaccharidosis IVA).MethodsPatients with Morquio A aged ≥5 years (N = 176) were randomised (1:1:
Hendriksz CJ, Burton B, Fleming TR, Harmatz P, Hughes D, Jones SA, Lin SP, Mengel E, Scarpa M, Valayannopoulos V, Giugliani R, STRIVE Investigators, Slasor P, Lounsbury D, Dummer W.   +14 more
europepmc   +10 more sources

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

JIMD Reports, 2021
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by mutations in the GALNS gene, which leads to deficient activity of N‐acetylglucosamine‐6‐sulfate sulfatase.
Juan Politei, Gloria Liliana Porras‐Hurtado, Norberto Guelbert, Alejandro Fainboim, Dafne Dain Gandelman Horovitz, José María Satizábal   +5 more
doaj   +2 more sources

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. [PDF]

Am J Med Genet A, 2015
The primary treatment outcomes of a phase 2, randomized, double-blind, pilot study evaluating safety, physiological, and pharmacological effects of elosulfase alfa in patients with Morquio A syndrome are herewith presented.
Burton BK, Berger KI, Lewis GD, Tarnopolsky M, Treadwell M, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Genter F, Shaywitz AJ, Harmatz P.   +14 more
europepmc   +3 more sources

Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome [PDF]

Molecular Genetics and Metabolism Reports
Background: Morquio A syndrome is associated with progressive loss of ambulatory capacity. The impact of elosulfase alfa enzyme replacement therapy (ERT), the approved treatment for Morquio A, remains understudied in non-ambulatory patients.
Carolina F.M. de Souza, Barbara K. Burton, Philippe M. Campeau, Roberto Giugliani, Nathalie Guffon, Christina Lampe, Nicole Muschol, Serap Sivri, Martha Solano, Karolina M. Stepien   +9 more
doaj   +2 more sources

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS) [PDF]

Orphanet Journal of Rare Diseases
Background Mucopolysaccharidosis (MPS) IVA is a rare disease with substantial, multisystemic morbidity. We assessed real-world safety and effectiveness of the enzyme replacement therapy (ERT) elosulfase alfa in patients with MPS IVA in the multinational,
Karolina M. Stepien, Barbara K. Burton, Michael B. Bober, Philippe M. Campeau, Carolyn Ellaway, Kaustuv Bhattacharya, Nathalie Guffon, David Hinds, Abigail Hunt, Alice Lail, Shuan-Pei Lin, Martin Magner, Elaine Murphy, Pascal Reisewitz, John J. Mitchell   +14 more
doaj   +2 more sources