Related Experiment Video
Updated: May 28, 2025
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.0K
Home Enzyme Replacement Therapy in Gaucher Disease: A Review
Beata Kieć-Wilk1,2, Paul Guijt3, Michaela Dan4
1Unit of Rare Metabolic Diseases, Department of Pathophysiology, Jagiellonian University Medical College, 31-121 Krakow, Poland.
Journal of Clinical Medicine
|February 13, 2025
Summary
Home-based enzyme replacement therapy (ERT) for Gaucher Disease is safe and improves patient quality of life. Expanding access to home ERT globally is recommended, provided specific conditions are met.
Area of Science:
- Biochemistry
- Genetics
- Pharmacology
Background:
- Gaucher Disease management has evolved with home-based enzyme replacement therapy (ERT) since the 1990s.
- Home ERT adoption varies globally, presenting implementation challenges.
Purpose of the Study:
- To explore the implementation of home ERT for Gaucher Disease.
- To assess patient expectations, safety, compliance, economic benefits, and practicalities of home ERT.
Main Methods:
- Systematic literature review following PRISMA guidelines.
- Analysis of twenty articles focusing on home ERT for Gaucher Disease.
Main Results:
- Home ERT for Gaucher Disease is consistently safe and effective.
- Significant improvements in patient quality of life and reduced hospital resource utilization were observed.
- No compliance issues were reported with home ERT programs.
Conclusions:
- Home ERT for Gaucher Disease should be expanded to all accessible regions.
- Key conditions for initiating home ERT programs are identified based on the literature review.
More Related Videos
Related Concept Videos
00:59Gene Therapy
25.1K
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...
25.1K
01:22Lysosomal Hydrolases
3.7K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.7K
01:22Alzheimer's Disease: Treatment
155
Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
155
01:22Bone Marrow Sampling and Transplants
276
Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
276
01:24Glucagon-like Receptor Agonists
291
Incretins include glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic polypeptide (GIP), which stimulate insulin secretion post-meals. In type 2 diabetes, GIP's efficacy is reduced, making GLP-1 a viable drug target. GIP originates from preproGIP.
GLP-1, when administered in high doses intravenously, triggers insulin secretion, inhibits glucagon release, slows gastric emptying, reduces food intake, and restores normal insulin secretion. However, its rapid inactivation by...
GLP-1, when administered in high doses intravenously, triggers insulin secretion, inhibits glucagon release, slows gastric emptying, reduces food intake, and restores normal insulin secretion. However, its rapid inactivation by...
291