Sebelipase Alfa Improves Aminotransferase Levels in Lysosomal Acid Lipase Deficiency: Data From an International Registry [PDF]
Liver InternationalABSTRACT Background and Aims In patients with lysosomal acid lipase deficiency (LAL‐D), elevations in alanine and aspartate aminotransferases (ALT, AST) are associated with liver damage. The objective of this analysis was to evaluate aminotransferase levels in patients treated with sebelipase alfa enzyme replacement therapy and untreated patients ...
Lorenzo D'Antiga +2 more
exaly +6 more sources
Correction to: Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization. [PDF]
JIMD Rep, 2020 JIMD Reports, Volume 53, Issue 1, Page 111-111, May 2020.
europepmc +5 more sources
Long‐Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency
Journal of Pediatric Gastroenterology and Nutrition, Volume 74, Issue 6, Page 757-764, June 2022., 2022 ABSTRACT Objectives: Sebelipase alfa is approved for treatment of lysosomal acid lipase deficiency (LAL‐D). This single‐arm, open‐label study (NCT02112994) evaluated sebelipase alfa efficacy and safety in patients with LAL‐D. Methods: Patients >8 months of age diagnosed with LAL‐D received sebelipase alfa 1.0 mg/kg by intravenous infusion every other ...
Barbara K. Burton +6 more
wiley +4 more sources
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study [PDF]
Orphanet Journal of Rare Diseases, 2017 أظهر الرضع الذين يعانون من نقص حمض الليباز الليزوزومي فشلًا في النمو، والإسهال، وتضخم الكبد والطحال الهائل، وفقر الدم، وأمراض الكبد سريعة التقدم، والوفاة عادة في الأشهر الستة الأولى من الحياة ؛ كان العلاج المحتمل الوحيد المتاح هو زرع الخلايا الجذعية المكونة للدم، والذي يرتبط بارتفاع المراضة والوفيات في هذه الفئة من السكان.
Roshni Vara +2 more
exaly +10 more sources
A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy. [PDF]
J Pediatr Gastroenterol Nutr, 2020 ABSTRACTLysosomal acid lipase (LAL) deficiency, or cholesterol ester storage disease, is a disorder affecting the breakdown of cholesterol esters and triglycerides within lysosomes. Clinical findings include hepatomegaly, hepatic dysfunction, and dyslipidemia with a wide range of phenotypic variability and age of onset.
Shen JJ +5 more
europepmc +6 more sources
Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism. [PDF]
Clin Transl Sci, 2023 Abstract This paper summarizes key features of the dose‐finding strategies used in the development of 11 approved new molecular entities that are first‐in‐class enzyme replacement therapy (ERT), with a goal to gain insight into the dose exploration approaches to inform efficient dose‐finding in future development of biological products for Inborn ...
Hon YY +8 more
europepmc +2 more sources
Response to Drs. Strong and Ficicioglu. [PDF]
J Pediatr Gastroenterol Nutr, 2023 Journal of Pediatric Gastroenterology and Nutrition, Volume 76, Issue 6, Page e89-e89, June 2023.
Burton BK.
europepmc +2 more sources
Molecular Genetics and Metabolism Reports, 2022 Wolman Disease (WD) is a severe multi-system metabolic disease due to lysosomal acid lipase (LAL) deficiency. We report on a WD infant who developed an unusual hemophagocytic lymphohistiocytosis (HLH) phenotype related to WD treated with sebelipase alfa.
Federico Baronio +12 more
doaj +1 more source
Long-term clinical outcomes in lysosomal acid lipase deficiency: Fibrosis regression with sebelipase alfa therapy. [PDF]
Can Liver JBackground: Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive disorder caused by mutations in the LIPA gene, leading to accumulation of cholesterol esters and triglycerides, particularly in the liver and spleen. The disease manifests as either severe infantile Wolman disease or the milder chronic cholesteryl ester storage disease ...
MacDonald M +6 more
europepmc +4 more sources
Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. [PDF]
J Inherit Metab DisABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Ain NU, Vaishnaw M, Mistry PK.
europepmc +2 more sources