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gaucher disease (GD) can be classified into three clinical types .type 1,the most common type ,is the chronic non neuronpathic form of the disease,which shows gighly variable signs and symptoms and variable course,with visceral,skeletal and hematologic involvement among others.the neurologocal involvement can be observed in types 2 and 3
enzymatic defeciency in gaucher disease patients may induce a cascade of events that result in side effects, such as the production of reactive oxygen species(ROS) and reactive nitrogen species(RNS) that can then generate the oxidative stress whereas in body of healthy individuals,the production and degradation of ROS and RNS are generally balanced.
neurochemical abnormalities in patients with gaucher disease might be related to oxidative stress and inflammation in the brain.
oxidative stress induces peroxiredoxin-2 as cytoprotective response against RNS .it is able to detoxify a vast range of organic peroxides.
vitamin E well accepted nature most effective lipid soluble chain breaking antioxidant .
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| cases who are taking vitamin E | Experimental | gaucher disease patients with oxidative stress and vitamin E defeciency taking vitamin E treatment (weigh below 20 kg dose will be 200mg daily and whose weight above 20 kg dose will be 400mg daily for duration 6 months ) |
|
| controls who are not taking vitamin E treatment | No Intervention | gaucher disease patients with oxidative stress and vitamin E defeciency not taking vitamin E treatment but take the standard of care which is enzyme replacement therapy |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Vitamin E | Drug | Vitamin E will be taken for 6 months for gaucher disease patients who have oxidative stress and vitamin E defecient |
|
| Measure | Description | Time Frame |
|---|---|---|
| effect of vitamin E on oxidative stress and antioxidant markers in gaucher disease patients | Measuring the oxidative stress markers in gaucher disease MDA and anti oxidant markers which are peroxiredoxin 2 ,Glutathione peroxidase,superoxide dismutase and reduced glutathione | 6 months |
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Inclusion Criteria:
children and adolescents aged fron 2 to 18 years old with gaucher disease both type 1 and type 3 diagnosed clinically and confirmed by laboratory analysis patients who are on stable enzyme replacement therapy for at least 6 months -
Exclusion Criteria:
patients with infection or another inflammatory condition patients on multivitamin therapy known chronic liver disease (viral hepatitis,HIV) patients with renal impairement defined as creatinine level greater 1.2 for female and greater than 1.4 for male.
-
self representation of gender identity
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| Name | Affiliation | Role |
|---|---|---|
| Amira A Adly, Phd | Ain Shams University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Ain Shams University | Cairo | Abbasia | 11517 | Egypt |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 23523857 | Background | Pacheco N, Uribe A. Enzymatic analysis of biomarkers for the monitoring of Gaucher patients in Colombia. Gene. 2013 May 25;521(1):129-35. doi: 10.1016/j.gene.2013.03.044. Epub 2013 Mar 21. | |
| 33335836 | Background | Kartha RV, Terluk MR, Brown R, Travis A, Mishra UR, Rudser K, Lau H, Jarnes JR, Cloyd JC, Weinreb NJ. Patients with Gaucher disease display systemic oxidative stress dependent on therapy status. Mol Genet Metab Rep. 2020 Dec 9;25:100667. doi: 10.1016/j.ymgmr.2020.100667. eCollection 2020 Dec. |
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| ID | Term |
|---|---|
| D005776 | Gaucher Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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| ID | Term |
|---|---|
| D014810 | Vitamin E |
| ID | Term |
|---|---|
| D001578 | Benzopyrans |
| D011714 | Pyrans |
| D006573 | Heterocyclic Compounds, 1-Ring |
| D006571 | Heterocyclic Compounds |
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| 39183538 | Derived | Adly AAM, Ismail EAR, Ibrahim FA, Atef M, El Sayed KA, Aly NH. A 6-month randomized controlled trial for vitamin E supplementation in pediatric patients with Gaucher disease: Effect on oxidative stress, disease severity and hepatic complications. J Inherit Metab Dis. 2025 Jan;48(1):e12792. doi: 10.1002/jimd.12792. Epub 2024 Aug 25. |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D006574 |
| Heterocyclic Compounds, 2-Ring |
| D000072471 | Heterocyclic Compounds, Fused-Ring |