Hyperhomocysteinemia, Thrombotic, Cbs-RelatedNCT04287881
Methylenetetrahydrofolate Reductase Deficiency in Ischemic Stroke
A study testing Methylenetetrahydrofolate reductase (MTHFR) deficiency in people with Hyperhomocysteinemia, Thrombotic, Cbs-Related and Ischemic Stroke, run by Istanbul Medeniyet University at 2 sites in Turkey (Türkiye).
Trial summary
Adult onset epileptic seizures is rare and often associated with metabolic disorders, drugs and intracranial pathologies such as ischemia, hemorrhage or space-occupying lesions. Methylenetetrahydrofolate reductase (MTHFR) deficiency is one of the reasons that cause epileptic seizures in adults and can be ignored. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hyperhomocysteinemia, Thrombotic, Cbs-Related, Ischemic Stroke, Epilepsy
- What is being tested?
- Methylenetetrahydrofolate reductase (MTHFR) deficiency
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 32 participants
- Where
- 2 sitesTurkey (Türkiye)
- Study dates
- 31 Oct 2019to 20 Feb 2020
- Phase
- Interventional
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- The patients with adult-onset epileptic seizures and diagnosed ischemic stroke in 3 years period.
Who cannot join
- Pediatric patients with epileptic seizures
Trial locations and contacts
2 sites in 1 country.
Turkey (Türkiye)2 sites
Zeynep Orhon
Istanbul, 34722
Istanbul MU Goztepe Training and Research Hospital
Istanbul, 34730
About this study
Official title: Investigation the Incidence of Methylenetetrahydrofolate Reductase Deficiency in Ischemic Cerebrovascular Diseases Presenting With Epileptic Seizures in Adults
Adult onset epileptic seizures is rare and often associated with metabolic disorders, drugs and intracranial pathologies such as ischemia, hemorrhage or space-occupying lesions. Methylenetetrahydrofolate reductase (MTHFR) deficiency is one of the reasons that cause epileptic seizures in adults and can be ignored. MTHFR deficiency is an autosomal recessive disorder that results in hyperhomocysteinemia and causes a predisposition to venous and arterial thrombosis. The incidence of the polymorphism is around 40% in some countries. The aim of the retrospective study is to investigate the incidence of MTHFR deficiency in patients with adult-onset epileptic seizures.
Read the detailed description
Epileptic seizures that begin in adulthood seriously affect patients, their relatives and the society in which they live financially and psychologically. The etiology of epileptic seizures starting at adult age includes head trauma, central nervous system infections, intracranial lesions, cerebrovascular events, metabolic diseases and drugs. While the causes of childhood epileptic seizures are generally considered idiopathic, adult-onset epileptic seizures are almost always due to a pathological process. Epileptic seizures in adults may be a symptom of ischemic stroke. MTHFR deficiency is associated with raised homocysteine concentration in the body and increased risk of stroke (1). Studies have demonstrated that hyperhomocysteinemia is an independent risk factor for stroke (2).
MTHFR is the key enzyme in remethylation of homocysteine to methionine. MTHFR deficiency is an autosomal-recessive disease characterized by high homocysteine and low or normal methionine. MTHFR deficiency can cause vascular thrombosis in adults at early age; increased osteoporosis in elderly people; deep vein thrombosis, abortus during pregnancy; and infertility in adult males. In children, it is associated with intrauterine growth retardation, congenital heart diseases, neural tube defects, chromosome anomalies and hematologic tumors. In any age group, it might cause convulsions, increased thrombosis risk with some anticonvulsants and with the use of nitrogen protoxide in surgeries, and neuromotor retardation (3).
The aim of this retrospective study is to investigate the incidence of MTHFR deficiency in patients presenting with adult-onset epileptic seizures and diagnosed as ischemic cerebrovascular disease as a result of diagnostic tests.
- Being tested
- Methylenetetrahydrofolate reductase (MTHFR) deficiency
- Keywords
- Methylenetetrahydrofolate reductase (MTHFR) deficiency, Ischemic Stroke, Epileptic seizures, Adult patients
- Medical subject headings
- Hyperhomocysteinemia, Ischemic Stroke, Epilepsy, Seizures
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Methylenetetrahydrofolate reductase (MTHFR) deficiencyGenetic
To investigate the incidence of MTHFR deficiency in patients with adult-onset epileptic seizures and diagnosed ischemic stroke
| Study group | Role | What they receive |
|---|---|---|
| Adult patients who have epileptic seizures | Other | Patients with adult-onset epileptic seizures and diagnosed ischemic stroke. Receives: Genetic: Methylenetetrahydrofolate reductase (MTHFR) deficiency |
What is being measured
The primary outcome is the main question the study is designed to answer.
Methylenetetrahydrofolate reductase (MTHFR) deficiency
The incidence of methylenetetrahydrofolate reductase (MTHFR) deficiency in ischemic stroke
Measured: Up to 6 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Feb 2020
- Study start31 Oct 2019
- Primary completion15 Feb 2020
- Study completion20 Feb 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hyperhomocysteinemia, Thrombotic, Cbs-RelatedStudies of the same condition, open and under way.
- 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 N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 32 participants (actual)
Sponsor and investigators
- Lead sponsor
- Istanbul Medeniyet University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Zeynep Nur Orhon, Istanbul Medeniyet University
- Investigators
- ZEYNEP ORHON, MD, Principal investigator, Istanbul Medeniyet University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04287881
- Sponsor's protocol ID
- İstanbulMUZEYNEP2
- Status last verified
- Feb 2020
- First submitted
- 22 Feb 2020
- Last updated
- 27 Feb 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Feb 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigation the Incidence of Methylenetetrahydrofolate Reductase Deficiency in Ischemic Cerebrovascular Diseases Presenting With Epileptic Seizures in Adults
- ClinicalTrials.gov ID
- NCT04287881
- Acronym / sponsor ID
- İstanbulMUZEYNEP2
- Keywords
- Methylenetetrahydrofolate reductase (MTHFR) deficiency, Ischemic Stroke, Epileptic seizures, Adult patients
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 32 participants (actual)
- Lead sponsor
- Istanbul Medeniyet UniversityUniversity, hospital or other
- Study start
- 31 Oct 2019 (actual)
- Primary completion
- 15 Feb 2020 (actual)
- Study completion
- 20 Feb 2020 (actual)
- First posted
- 27 Feb 2020 (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.
Adult onset epileptic seizures is rare and often associated with metabolic disorders, drugs and intracranial pathologies such as ischemia, hemorrhage or space-occupying lesions. Methylenetetrahydrofolate reductase (MTHFR) deficiency is one of the reasons that cause epileptic seizures in adults and can be ignored. MTHFR deficiency is an autosomal recessive disorder that results in hyperhomocysteinemia and causes a predisposition to venous and arterial thrombosis. The incidence of the polymorphism is around 40% in some countries. The aim of the retrospective study is to investigate the incidence of MTHFR deficiency in patients with adult-onset epileptic seizures.
Detailed description
Epileptic seizures that begin in adulthood seriously affect patients, their relatives and the society in which they live financially and psychologically. The etiology of epileptic seizures starting at adult age includes head trauma, central nervous system infections, intracranial lesions, cerebrovascular events, metabolic diseases and drugs. While the causes of childhood epileptic seizures are generally considered idiopathic, adult-onset epileptic seizures are almost always due to a pathological process. Epileptic seizures in adults may be a symptom of ischemic stroke. MTHFR deficiency is associated with raised homocysteine concentration in the body and increased risk of stroke (1). Studies have demonstrated that hyperhomocysteinemia is an independent risk factor for stroke (2).
MTHFR is the key enzyme in remethylation of homocysteine to methionine. MTHFR deficiency is an autosomal-recessive disease characterized by high homocysteine and low or normal methionine. MTHFR deficiency can cause vascular thrombosis in adults at early age; increased osteoporosis in elderly people; deep vein thrombosis, abortus during pregnancy; and infertility in adult males. In children, it is associated with intrauterine growth retardation, congenital heart diseases, neural tube defects, chromosome anomalies and hematologic tumors. In any age group, it might cause convulsions, increased thrombosis risk with some anticonvulsants and with the use of nitrogen protoxide in surgeries, and neuromotor retardation (3).
The aim of this retrospective study is to investigate the incidence of MTHFR deficiency in patients presenting with adult-onset epileptic seizures and diagnosed as ischemic cerebrovascular disease as a result of diagnostic tests.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Adult patients who have epileptic seizures | Other | Genetic: Methylenetetrahydrofolate reductase (MTHFR) deficiencyPatients with adult-onset epileptic seizures and diagnosed ischemic stroke. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- The patients with adult-onset epileptic seizures and diagnosed ischemic stroke in 3 years period.
Key exclusion criteria (1 listed)
- Pediatric patients with epileptic seizures
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 |
|---|---|---|
| Methylenetetrahydrofolate reductase (MTHFR) deficiencyTo investigate the incidence of MTHFR deficiency in patients with adult-onset epileptic seizures and diagnosed ischemic stroke | Genetic | Adult patients who have epileptic seizures |
Primary outcome
Methylenetetrahydrofolate reductase (MTHFR) deficiency
Time frame: Up to 6 weeks
The incidence of methylenetetrahydrofolate reductase (MTHFR) deficiency in ischemic stroke
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 27 Feb 2020.
- Individual participant dataSharing planned: No
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.
ZEYNEP ORHON, MD principal investigator
Istanbul Medeniyet University
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Methylenetetrahydrofolate reductase (MTHFR) deficiency in people with Hyperhomocysteinemia, Thrombotic, Cbs-Related and Ischemic Stroke, run by Istanbul Medeniyet University at 2 sites in Turkey (Türkiye).
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 1 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 27 Feb 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Turkey (Türkiye). 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.
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?
Methylenetetrahydrofolate reductase (MTHFR) deficiency (time frame: Up to 6 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 27 Feb 2020.