Related Experiment Video
Updated: Jun 13, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Enzyme replacement therapy for Anderson-Fabry disease
Regina P El Dib1, Gregory M Pastores
1Department of Surgery, St. Joseph's Healthcare Hamilton, McMaster University, 50 Charlton Avenue East, Hamilton, ON, Canada, L8N 4A6.
The Cochrane Database of Systematic Reviews
|May 14, 2010
Summary
Enzyme replacement therapy for Anderson-Fabry disease shows limited evidence. Agalsidase alfa did not significantly reduce glycosphingolipid levels, while agalsidase beta demonstrated some improvements in specific markers, but overall trial quality is low.
Area of Science:
- Biochemistry
- Genetics
- Pharmacology
Background:
- Anderson-Fabry disease is an X-linked genetic disorder impacting glycosphingolipid metabolism.
- It leads to progressive renal insufficiency, cardiovascular complications, and reduced survival rates in affected males and carriers.
Purpose of the Study:
- To assess the efficacy and safety of enzyme replacement therapy (ERT) for Anderson-Fabry disease.
- Comparisons were made against placebo, no intervention, or other treatments.
Main Methods:
- A systematic search was conducted across multiple databases including Cochrane Library, MEDLINE, EMBASE, and LILACS.
- Included were randomized controlled trials (RCTs) of agalsidase alfa or beta in patients diagnosed with Anderson-Fabry disease.
Main Results:
- Agalsidase alfa trials showed non-significant changes in glycosphingolipid levels but reported improvements in pain scores and quality of life in some analyses.
- Agalsidase beta trials indicated significant reductions in glycosphingolipid levels in kidney and heart, and for composite endpoints, but not for mortality.
- No deaths were reported in agalsidase alfa trials; pain was not assessed. No significant difference in death was found for agalsidase beta.
Conclusions:
- The current evidence from five small, low-quality RCTs is insufficient to robustly support the use of agalsidase alfa or beta for treating Anderson-Fabry disease.
- Further high-quality research is needed to establish the definitive benefits and risks of ERT in this condition.
More Related Videos
Related Concept Videos
01:30Continuous Renal Replacement Therapy
Continuous Renal Replacement Therapy, also known as CRRT, is a procedural treatment for acute kidney injury (AKI) that gradually removes uremic toxins and fluids while maintaining acid-base balance and stabilizing electrolytes. It is particularly useful for hemodynamically unstable patients. Unlike intermittent hemodialysis, which is faster, CRRT provides a gentler approach over 24 hours, closely mimicking the function of natural kidneys. However, CRRT is not ideal for patients with...
01:26Extracorporeal Removal of Drugs: Continuous Renal Replacement Therapy
Continuous Renal Replacement Therapy (CRRT) is an essential intervention for patients experiencing severe kidney dysfunction. This therapy offers a continuous mechanism for removing fluids and toxins from the bloodstream, leveraging the patient’s blood pressure to facilitate filtration through a specialized filter. This method contrasts with intermittent dialysis, providing a gentler and more consistent removal of waste products and excess fluid, which is particularly beneficial in critically...
00:59Gene Therapy
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
00:59Gene Therapy
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
01:25Aortic Regurgitation III: Medical Management
Aortic regurgitation (AR) is when the aortic valve does not close or seal properly, leading to backward blood circulation from the aorta into the left ventricle during diastole. Common causes of AR include rheumatic heart disease, congenital valve defects, and aortic root dilation. Managing AR requires a multifaceted approach to alleviate symptoms, preserve left ventricular function, and address the underlying cause of the regurgitation. Patients with symptomatic AR or significant left...
01:30Heart Failure V: Medical Management
Medical Management of Acute Decompensated Heart Failure (ADHF)The primary goals of therapy for patients hospitalized with acute decompensated heart failure (ADHF) include:Relieving symptomsOptimizing volume statusSupporting oxygenation and ventilationMaintaining cardiac output (CO) and end-organ perfusionIdentifying and addressing the cause of ADHFPreventing complicationsProviding patient education on factors precipitating HF exacerbationPlanning for dischargeOngoing monitoring and assessment...