Trial reportHepatology (Baltimore, Md.)2013
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease.
Trial report in Hepatology (Baltimore, Md.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 4 registered trials, which are not on this map. Cited by 40 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
An Open-Label Multicenter Study to Evaluate the Safety, Tolerability and Pharmacokinetics of SBC-102 in Adult Participants With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency
An Open Label Multicenter Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 in Adult Subjects With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency Who Previously Received Treatment in Study LAL-CL01
A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency
The Frequency of Cholesteryl Ester Storage Disease in Children With Unexplained Transaminase Elevation and Chronic Liver Disease
Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 117 citations in OpenAlex.
- Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.Arteriosclerosis, thrombosis, and vascular biology · 2013Pooled it
- Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study.Liver international : official journal of the International Association for the Study of the Liver · 2020Trial
- Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.Orphanet journal of rare diseases · 2017Trial
- Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.Journal of hepatology · 2014Trial
- Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France.Advances in therapy · 2026Article
- Case Report: Wolman disease caused by LIPA variants in two Chinese infants and a focused literature synthesis.Frontiers in pediatrics · 2026Article
- LIPA, a risk locus for coronary artery disease: decoding the variant-to-function relationship.European heart journal · 2025Article
- Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group.Orphanet journal of rare diseases · 2025Review
- Screening for Lysosomal Acid Lipase Deficiency in a Lipid Clinic.Arquivos brasileiros de cardiologia · 2025Article
- Liver-directed AAV gene therapy normalizes disease symptoms and provides cross-correction in a model of lysosomal acid lipase deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- NICE Approaches to Expert Opinion Evidence in Highly Specialised Technologies: Time to Change? Evidence Assessment Group Perspective.PharmacoEconomics · 2024Article
- Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.Orphanet journal of rare diseases · 2024Article
- Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.Arquivos de neuro-psiquiatria · 2023Review
- Recent insights into lysosomal acid lipase deficiency.Trends in molecular medicine · 2023Review
- Natural history and management of liver dysfunction in lysosomal storage disorders.World journal of hepatology · 2022Review
- Therapeutic efficacy of rscAAVrh74.miniCMV.Molecular therapy. Methods & clinical development · 2022Article
- Advancing the Research and Development of Enzyme Replacement Therapies for Lysosomal Storage Diseases.GEN biotechnology · 2022Article
- Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis.Molecular genetics and metabolism reports · 2022Article
- Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease.Frontiers in genetics · 2022Review
- Crystal structure of human lysosomal acid lipase and its implications in cholesteryl ester storage disease.Journal of lipid research · 2020Article
Corrections and comments
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Authors and funding
16 authors at 9 institutions in 4 countries.
Funding
Abstract
unlabelledCholesteryl ester storage disease (CESD), an inherited deficiency of lysosomal acid lipase (LAL), is an underappreciated cause of progressive liver disease with no approved therapy. Presenting features include dyslipidemia, elevated transaminases, and hepatomegaly. To assess the clinical effects and safety of the recombinant human LAL, sebelipase alfa, nine patients received four once-weekly infusions (0.35, 1, or 3 mg·kg(-1) ) in LAL-CL01, which is the first human study of this investigational agent. Patients completing LAL-CL01 were eligible to enroll in the extension study (LAL-CL04) in which they again received four once-weekly infusions of sebelipase alfa (0.35, 1, or 3 mg·kg(-1) ) before transitioning to long-term every-other-week infusions (1 or 3 mg·kg(-1) ). Sebelipase alfa was well tolerated, with mostly mild adverse events unrelated to sebelipase alfa. No antidrug antibodies were detected. Transaminases decreased in patients in LAL-CL01 and increased between studies. In seven patients receiving ongoing sebelipase alfa treatment in LAL-CL04, the mean ± standard deviation (SD) decreases for alanine transaminase and aspartate aminotransferase at week 12 compared to the baseline values in LAL-CL01 were 46 ± 21 U/L (-52%) and 21 ± 14 U/L (-36%), respectively (P ≤ 0.05). Through week 12 of LAL-CL04, these seven patients also showed mean decreases from baseline in total cholesterol of 44 ± 41 mg/dL (-22%; P = 0.047), low density lipoprotein-cholesterol of 29 ± 31 mg/dL (-27%; P = 0.078), and triglycerides of 50 ± 38 mg/dL (-28%, P = 0.016) and increases in high density lipoprotein-cholesterol of 5 mg/dL (15%; P = 0.016).
conclusionThese data establish that sebelipase alfa, an investigational enzyme replacement, in patients with CESD is well tolerated, rapidly decreases serum transaminases, and that these improvements are sustained with long-term dosing and are accompanied by improvements in serum lipid profile.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.