ArticleOrphanet journal of rare diseases2021
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review.Journal of inherited metabolic disease · 2026Article
- Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion.Nutrients · 2026Review
- Case Report: Wolman disease caused by LIPA variants in two Chinese infants and a focused literature synthesis.Frontiers in pediatrics · 2026Article
- Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group.Orphanet journal of rare diseases · 2025Review
- Lysosomal acid lipase deficiency: The forgotten link between liver and cardiovascular disease.World journal of cardiology · 2025Review
- The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives.Journal of inherited metabolic disease · 2025Review
- Sebelipase Alfa Improves Aminotransferase Levels in Lysosomal Acid Lipase Deficiency: Data From an International Registry.Liver international : official journal of the International Association for the Study of the Liver · 2025Observational
- Plant molecular farming: a promising frontier for orphan drug production.Biotechnology letters · 2025Review
- Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transfer.Communications medicine · 2025Article
- Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening.International journal of neonatal screening · 2025Article
- Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.Nutrients · 2024Review
- NICE Approaches to Expert Opinion Evidence in Highly Specialised Technologies: Time to Change? Evidence Assessment Group Perspective.PharmacoEconomics · 2024Article
- Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains.Orphanet journal of rare diseases · 2024Article
- Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.Orphanet journal of rare diseases · 2024Article
- Recent insights into lysosomal acid lipase deficiency.Trends in molecular medicine · 2023Review
- Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots.Molecular genetics and metabolism reports · 2022Article
- Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five.Canadian liver journal · 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death before 12 months of age. In clinical trials, enzyme replacement therapy (ERT) with sebelipase alfa led to improved survival, growth and biological parameters in WD patients followed up to 5 years. Long-term follow-up and health-related quality of life (HRQoL) evaluation are lacking.
resultsWe performed a nationwide, retrospective study of sebelipase alfa in WD patients. Five patients with abolished LAL activity and bi-allelic LIPA mutations were included with a median follow-up of 7 years (1-10). ERT was initiated at a median age of 1 month (0-4). Infusion tolerance was excellent on the long-term with only one patient requiring systematic pre-medication. Cholestyramine, fat-soluble vitamin supplements and a specific diet (high in medium-chain triglycerides and low in long-chain fatty acids) were prescribed. Liver function tests, plasma lipid profiles, fat-soluble vitamin levels and growth parameters improved. Three patients transiently exhibited a neuromyopathic phenotype (footdrop gait, waddling walk or muscle fatigue) but electromyography and muscle strength testing were normal. At last follow-up, all patients were alive with normal growth parameters and a satisfactory HRQoL, no patient had special education needs, and one patient required parenteral nutrition since an acute gastroenteritis.
conclusionsEarly ERT initiation allowed 100% survival with positive outcomes. Very long-term follow-up and hematopoietic stem cell transplantation while on ERT should be evaluated to strengthen the benefits of sebelipase alfa.
Indexed as
Identifiers
What OpenQuestion holds
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.