Related Experiment Video
Updated: Jul 31, 2025
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.1K
Fabry Disease and Its Management: A Literature Analysis
Smruti M Besekar1,2, Sangita D Jogdand3, Waqar M Naqvi4
1Pharmacology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Cureus
|May 8, 2023
Summary
Migalastat and enzyme replacement therapy show promise for treating Fabry disease, a genetic disorder. Further research is needed to confirm these findings and explore new treatments for this multisystemic condition.
Area of Science:
- Biochemistry
- Genetics
- Pharmacology
Background:
- Fabry disease is a multisystemic, X-linked genetic disorder.
- Early intervention is crucial for managing Fabry disease.
- The condition requires comprehensive treatment strategies.
Purpose of the Study:
- To evaluate the effectiveness of interventional therapies for Fabry disease.
- To review existing studies on Fabry disease management.
- To identify successful and unsuccessful treatment approaches.
Main Methods:
- A literature review was conducted.
- Keywords such as "Fabry disease" and "Management" were used for database searches.
- Seven studies were selected from 90 for analysis.
Main Results:
- Migalastat and enzyme replacement medication demonstrated success in treating Fabry disease.
- Agalsidase beta did not show a positive effect in the reviewed studies.
- The analysis yielded ambiguous conclusions due to the limited number of studies.
Conclusions:
- Migalastat and enzyme replacement therapy are potential treatments for Fabry disease.
- Further randomized controlled trials and case studies are necessary.
- Continued research is vital for developing cures for genetic diseases like Fabry disease.
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