Results 1 to 10 of about 285 (98)

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan [PDF]

Molecular Genetics & Genomic Medicine
Background Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal disorder with diverse clinical presentations and often delayed diagnosis. This study investigates the clinical features, genetic variants, and treatment outcomes in Taiwanese patients.
Hsu‐Heng Lin, Hui‐An Chen, Shyh‐Jer Lin, Rai‐Hseng Hsu, Ni‐Chung Lee, Wuh‐Liang Hwu, Yen‐Hsuan Ni, Yen‐Yin Chou, Pao‐Chin Chiu, Steven Shinn‐Forng Peng, Yin‐Hsiu Chien   +10 more
doaj   +5 more sources

Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinase.
Conan Donnelly, Justin Hopkin
exaly   +5 more sources

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-controlled trial in adults with ASMD
Eugen Mengel, Maurizio Scarpa, Robin Lachmann   +2 more
exaly   +8 more sources

Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency [PDF]

Molecular Genetics and Metabolism Reports
Olipudase alfa is indicated for the non-central nervous system manifestations of Acid sphingomyelinase deficiency (ASMD). Anaphylaxis is a very rare and life-threatening adverse reaction described for this drug.
Dario Dilillo, Carmela Zizzo, Enza D'Auria   +2 more
exaly   +8 more sources

Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency [PDF]

Frontiers in Pediatrics
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase, leading to sphingomyelin accumulation and multi-organ damage. ASMD presents a broad phenotypic spectrum with a
Carlo Dionisi-Vici, Federica Deodato, Sara Boenzi   +2 more
exaly   +6 more sources

Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results [PDF]

Orphanet Journal of Rare Diseases, 2022
Background Olipudase alfa is a recombinant human acid sphingomyelinase (ASM) enzyme replacement therapy (ERT) for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD).
George Diaz, Eugen Mengel, Roberto Giugliani   +2 more
exaly   +6 more sources

Changes in PCSK 9 and apolipoprotein B100 in Niemann–Pick disease after enzyme replacement therapy with olipudase alfa [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Enzyme replacement therapy (ERT) with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is being developed to treat patients with ASM deficiency (ASMD), commonly known as Niemann–Pick disease (NPD) types A or B.
Bethanie Garside, Jan Hoong Ho, See Kwok, Yifen Liu, Shaishav Dhage, Rachelle Donn, Zohaib Iqbal, Simon A. Jones, Handrean Soran   +8 more
doaj   +5 more sources

Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Enzyme replacement therapy with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is indicated for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children and adults.
George Diaz, Robin Lachmann, Melissa Wasserstein   +2 more
exaly   +3 more sources

Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency—results from an international survey study [PDF]

Orphanet Journal of Rare Diseases
Background Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder caused by SMPD1 mutations, resulting in sphingomyelin accumulation and diverse manifestations.
Shaun Bolton, Justin Hopkin
exaly   +3 more sources

Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup [PDF]

Molecular Genetics and Metabolism Reports
Objectives: To present key features of pediatric acid sphingomyelinase deficiency (ASMD) and assess the clinical and safety outcomes of enzyme replacement therapy with olipudase alfa.
Nehal Abdelaziz Arafa, Aml Mahfouz, Shimaa Anwar, Iman Marzouk   +3 more
doaj   +4 more sources