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Methylenetetrahydrofolate Reductase Deficiency in Ischemic Stroke

Primary Purpose

Hyperhomocysteinemia, Thrombotic, Cbs-Related, Ischemic Stroke, Epilepsy

Status
Completed
Phase
Not Applicable
Locations
Turkey
Study Type
Interventional
Intervention
Methylenetetrahydrofolate reductase (MTHFR) deficiency
Sponsored by
Istanbul Medeniyet University
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional screening trial for Hyperhomocysteinemia, Thrombotic, Cbs-Related focused on measuring Methylenetetrahydrofolate reductase (MTHFR) deficiency, Ischemic Stroke, Epileptic seizures, Adult patients

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

  • The patients with adult-onset epileptic seizures and diagnosed ischemic stroke in 3 years period.

Exclusion Criteria:

  • Pediatric patients with epileptic seizures

Sites / Locations

  • Zeynep Orhon
  • Istanbul MU Goztepe Training and Research Hospital

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

Adult patients who have epileptic seizures

Arm Description

Patients with adult-onset epileptic seizures and diagnosed ischemic stroke.

Outcomes

Primary Outcome Measures

Methylenetetrahydrofolate reductase (MTHFR) deficiency
The incidence of methylenetetrahydrofolate reductase (MTHFR) deficiency in ischemic stroke

Secondary Outcome Measures

Full Information

First Posted
February 22, 2020
Last Updated
February 25, 2020
Sponsor
Istanbul Medeniyet University
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1. Study Identification

Unique Protocol Identification Number
NCT04287881
Brief Title
Methylenetetrahydrofolate Reductase Deficiency in Ischemic Stroke
Official Title
Investigation the Incidence of Methylenetetrahydrofolate Reductase Deficiency in Ischemic Cerebrovascular Diseases Presenting With Epileptic Seizures in Adults
Study Type
Interventional

2. Study Status

Record Verification Date
February 2020
Overall Recruitment Status
Completed
Study Start Date
October 31, 2019 (Actual)
Primary Completion Date
February 15, 2020 (Actual)
Study Completion Date
February 20, 2020 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Istanbul Medeniyet University

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

Brief 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. 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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Hyperhomocysteinemia, Thrombotic, Cbs-Related, Ischemic Stroke, Epilepsy
Keywords
Methylenetetrahydrofolate reductase (MTHFR) deficiency, Ischemic Stroke, Epileptic seizures, Adult patients

7. Study Design

Primary Purpose
Screening
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
32 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Adult patients who have epileptic seizures
Arm Type
Other
Arm Description
Patients with adult-onset epileptic seizures and diagnosed ischemic stroke.
Intervention Type
Genetic
Intervention Name(s)
Methylenetetrahydrofolate reductase (MTHFR) deficiency
Intervention Description
To investigate the incidence of MTHFR deficiency in patients with adult-onset epileptic seizures and diagnosed ischemic stroke
Primary Outcome Measure Information:
Title
Methylenetetrahydrofolate reductase (MTHFR) deficiency
Description
The incidence of methylenetetrahydrofolate reductase (MTHFR) deficiency in ischemic stroke
Time Frame
Up to 6 weeks

10. Eligibility

Sex
All
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria: The patients with adult-onset epileptic seizures and diagnosed ischemic stroke in 3 years period. Exclusion Criteria: Pediatric patients with epileptic seizures
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
ZEYNEP ORHON, MD
Organizational Affiliation
Istanbul Medeniyet University
Official's Role
Principal Investigator
Facility Information:
Facility Name
Zeynep Orhon
City
İstanbul
ZIP/Postal Code
34722
Country
Turkey
Facility Name
Istanbul MU Goztepe Training and Research Hospital
City
Istanbul
ZIP/Postal Code
34730
Country
Turkey

12. IPD Sharing Statement

Plan to Share IPD
No

Learn more about this trial

Methylenetetrahydrofolate Reductase Deficiency in Ischemic Stroke

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