Gaucher DiseasePhase 3NCT06211478
Role of Vitamin E in Gaucher Disease Patients
A Phase 3 study testing Vitamin E in people with Gaucher Disease, run by Ain Shams University at 1 site in Egypt.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 2 to 18 years
- Conditions the study is for
- Gaucher Disease
- What is being tested?
- Vitamin E
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- 1 siteEgypt
- Study dates
- 3 Mar 2023to 5 Oct 2023
- Phase
- Phase 3
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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 -
Who cannot join
- 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.
- -
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Role of Vitamin E as an Adjuvant Therapy for Patients With Gaucher Disease Under Enzyme Replacement Therapy in Relation to Oxidative Stress
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
Read the detailed description
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 .
- Conditions
- Gaucher Disease
- Being tested
- Vitamin E
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Vitamin EDrug
Also called No other alternatives
Vitamin E will be taken for 6 months for gaucher disease patients who have oxidative stress and vitamin E defecient
| Study group | Role | What they receive |
|---|---|---|
| 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 ) Receives: Drug: Vitamin E |
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jan 2024
- Study start3 Mar 2023
- Primary completion5 Sep 2023
- Study completion5 Oct 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- More trials run by Ain Shams UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 3
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Lead sponsor
- Ain Shams University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Amira Abd el moneam, Ain Shams University
- Investigators
- Amira A Adly, Phd, Principal investigator, Ain Shams University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06211478
- Sponsor's protocol ID
- FMASU MD72/2022
- Status last verified
- Dec 2023
- First submitted
- 9 Jan 2024
- Last updated
- 18 Jan 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 23523857Kartha 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.
PubMed 33335836Adly 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.
PubMed 39183538
Study at a glance
From the registry record, last updated by the sponsor on 18 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Role of Vitamin E as an Adjuvant Therapy for Patients With Gaucher Disease Under Enzyme Replacement Therapy in Relation to Oxidative Stress
- ClinicalTrials.gov ID
- NCT06211478
- Acronym / sponsor ID
- FMASU MD72/2022
- Conditions
- Gaucher Disease
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- Ain Shams UniversityUniversity, hospital or other
- Study start
- 3 Mar 2023 (actual)
- Primary completion
- 5 Sep 2023 (actual)
- Study completion
- 5 Oct 2023 (actual)
- First posted
- 18 Jan 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Detailed description
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 .
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| cases who are taking vitamin E | Experimental | Drug: Vitamin Egaucher 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 |
Who may qualify
- Ages
- 2 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (1 listed)
- 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 -
Key exclusion criteria (2 listed)
- 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.
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Vitamin EAlso: No other alternativesVitamin E will be taken for 6 months for gaucher disease patients who have oxidative stress and vitamin E defecient | Drug | cases who are taking vitamin E |
Primary outcome
effect of vitamin E on oxidative stress and antioxidant markers in gaucher disease patients
Time frame: 6 months
Measuring the oxidative stress markers in gaucher disease MDA and anti oxidant markers which are peroxiredoxin 2 ,Glutathione peroxidase,superoxide dismutase and reduced glutathione
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jan 2024.
- Background: PubMed 23523857Pacheco 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.
- Background: PubMed 33335836Kartha 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.
- Derived from this study: PubMed 39183538Adly 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Amira A Adly, Phd principal investigator
Ain Shams University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing Vitamin E in people with Gaucher Disease, run by Ain Shams University at 1 site in Egypt.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Jan 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Egypt. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
effect of vitamin E on oxidative stress and antioxidant markers in gaucher disease patients (time frame: 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06211478, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jan 2024.