Results 111 to 120 of about 783 (129)

Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis.

JAMA Netw Open
Sakaguchi H, Kosuga M, So T, Gocho Y, Ono S, Yasue S, Mizuno S, Minato S, Higuchi T, Kim Y, Sekiguchi M, Yamada M, Deguchi T, Ogiwara H, Kurosawa K, Okuyama T, Iguchi A, Tomizawa D, Matsumoto K.   +18 more
europepmc   +1 more source

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study [PDF]

Molecular Genetics and Metabolism, 2022
Two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have cognitive impairment. This phase 2/3, randomized, controlled, open-label, multicenter study (NCT02055118) investigated the effects of intrathecally administered ...
Michal Inbar-Feigenberg, David Alexanderian, Yuna Wu   +2 more
exaly   +6 more sources

Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II [PDF]

Molecular Genetics and Metabolism, 2022
Enzyme replacement therapy with weekly infused intravenous (IV) idursulfase is effective in treating somatic symptoms of mucopolysaccharidosis II (MPS II; Hunter syndrome).
Michal Inbar-Feigenberg, David Alexanderian, Yuna Wu   +2 more
exaly   +6 more sources

Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review [PDF]

International Journal of Molecular Sciences
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase. Signs and symptoms typically emerge at 1.5–4 years of age and may include cognitive impairment ...
David Whiteman, Walla Al-Hertani
exaly   +3 more sources

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II [PDF]

Genetics in Medicine, 2016
Approximately two-thirds of patients with the lysosomal storage disease mucopolysaccharidosis II have progressive cognitive impairment. Intravenous (i.v.) enzyme replacement therapy does not affect cognitive impairment because recombinant iduronate-2 ...
Luying Pan, Joseph Muenzer, Christian Hendriksz   +2 more
exaly   +2 more sources

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

Genetics in Medicine, 2011
Purpose: This study evaluated the safety and effectiveness of long-term enzyme replacement therapy with idursulfase (recombinant human iduronate-2-sulfatase) in patients with Hunter syndrome.
David Whiteman, Roberto Giugliani, Joseph Muenzer   +2 more
exaly   +2 more sources

Efficacy and safety of idursulfase beta in the treatment of mucopolysaccharidosis II: A phase-3, 2-part study compared with a historical placebo cohort

Genetics in Medicine
PURPOSE: To investigate the efficacy and safety of idursulfase beta (0.5 mg/kg weekly) in the treatment of mucopolysaccharidosis II, compared with a historical placebo from a previous idursulfase trial (TKT024).
Young Bae Sohn, Dong-Kyu Jin, Aram Yang   +2 more
exaly   +2 more sources

Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

Genetics in Medicine, 2011
Purpose: To use the Hunter Outcome Survey, an international database, to assess the safety and effectiveness of enzyme replacement therapy with idursulfase in patients with Hunter syndrome who started treatment before 6 years of age.
Anna Tylki-Szymanska, Roberto Giugliani, Joseph Muenzer   +2 more
exaly   +2 more sources