ArticleHospital pharmacy2016
Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options.
Article in Hospital pharmacy, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 48 citations in OpenAlex.
- Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up.The American journal of case reports · 2026Article
- persistent pain and fatigue drive reduced quality of life in treated Gaucher disease type 1: a cross-sectional analysis.Orphanet journal of rare diseases · 2026Article
- Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.Neurogenetics · 2025Review
- Evaluation and study of adverse reactions to imiglucerase based on the FAERS database.Orphanet journal of rare diseases · 2025Article
- The bioactive sphingolipid playbook. A primer for the uninitiated as well as sphingolipidologists.Journal of lipid research · 2025Review
- Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease.Indian journal of pediatrics · 2025Article
- Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy.Pharmaceutics · 2025Article
- Developing Allosteric Chaperones forInternational journal of molecular sciences · 2024Article
- Review
- Gaucher disease in Brazil: a comprehensive 16 year retrospective study on survival, cost, and treatment insights.Frontiers in pharmacology · 2024Article
- Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.Frontiers in pharmacology · 2024Review
- Cardiovascular Involvement in Fabry's Disease: New Advances in Diagnostic Strategies, Outcome Prediction and Management.Cardiac failure review · 2023Review
- Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH.Fundamental research · 2022Article
- Gaucher Disease for HematologistsTurkish journal of haematology : official journal of Turkish Society of Haematology · 2022Review
- The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system.Molecular genetics and metabolism · 2022Observational
- Article
- Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan.Orphanet journal of rare diseases · 2021Article
- C5a Activates a Pro-Inflammatory Gene Expression Profile in Human Gaucher iPSC-Derived Macrophages.International journal of molecular sciences · 2021Article
- Sphingolipid lysosomal storage diseases: from bench to bedside.Lipids in health and disease · 2021Review
- Therapeutic Potential of αS Evolvability for Neuropathic Gaucher Disease.Biomolecules · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGaucher disease is a rare lysosomal storage disease resulting from a deficiency or reduced activity in the acid β-glucocosidase enzyme. Only 1 treatment option was available for 15 years, but several new treatment options have come to market since 2003.
objectiveThe article will detail the pathophysiology and review current therapies in the literature for all 3 major clinical types of Gaucher disease, with a focus on considerations for selecting therapy in type 1 disease.
methodsExtracted and summarized applicable studies and reviews from Cochrane Review, ClinicalTrials.gov, CINAHL, IPA, and PubMed.
resultsEnzyme replacement therapy is preferred for the management of Gaucher disease. Current literature does not favor any enzyme replacement product over another. However, velaglucerase alfa and taliglucerase alfa theoretically have a lower risk of immunogenicity reactions compared with imiglucerase. Alternative treatments for type 1 disease include substrate reduction therapy; however, these treatments require evaluation of patient-specific variables (eg, genotype evaluation, renal function) and consideration of adverse effect and dosing profiles. Evaluation of current literature found no substrate reduction therapy is preferred over another. There are no approved therapies for type 2 and type 3 disease, but enzyme replacement therapy may be used with limited efficacy for symptom management.
conclusionEnzyme replacement therapy is preferred for treating type 1 Gaucher disease and substrate replacement therapy may be considered in patients who do not tolerate or cannot receive enzyme replacement therapy.
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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.