Drug Resistant Epilepsy: Clinical and Genetic Study

November 14, 2019 updated by: Ahmed Esmael, Mansoura University Hospital

Clinical and Genetic Factors Associated With Drug Resistance of Epilepsy

This study is to identify the clinical criteria of drug resistant epilepsy and to explore whether SCN1A c.3184 A/G (rs2298771) and ccl2(rs1024611) polymorphisms could serve as genetic based biomarkers to predict drug resistance among epileptic patient.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Detailed Description

This retrospective case control study will be conducted on 120 epileptic patients treated with AEDs, 60 patients are drug responders and 60 patients are drug resistant. All epileptic patient will be recruited from outpatient epilepsy clinic, Department of Neurology, Mansoura University hospital. The control consists of 60 Age and gender matched healthy individual with negative past and family history of epilepsy and febrile convulsion.

Subjects:

Inclusion criteria:

  1. Patient with diagnosis of epilepsy (idiopathic or cryptogenic/symptomatic), according to the International League Against Epilepsy classification confirmed by electroencephalogram.
  2. Treatment with at least one AED, long enough to achieve the optimal dose; drug-resistance and drug-responsiveness, according to the criteria ILAE 2010.
  3. Written consent obtained from a patient or legal guardian.

Exclusion criteria:

  1. Patient with severe adverse anti epileptic drug reactions.
  2. Patient with unreliable records of seizure frequency.
  3. Patient with poor compliance with AEDs,.
  4. Patient with significant psychiatric comor- bidity,
  5. Patient with progressive systemic disorders .
  6. Patient with history of alcohol or drug abuse.
  7. Epileptic patients in clinical remission or with gradual withdrawal of therapy.
  8. Epileptic patients with therapy titration phase.

Methods:

After an informed consent, all participants will be subjected to the following;

  1. A detailed history taking; including age, sex, age of onset , type of seizure, duration of epilepsy, pretreatment and post treatment seizure frequency , and drugs (antiepileptic drugs, others).
  2. Full laboratory investigation including (complete blood count, liver function test, serum creatinine, electrolyte assay, thyroid profile, blood sugar test).
  3. Serum level of antiepileptic drug.
  4. Electroencephalogram in order to localize site of paroxysmal activity.
  5. MRI brain: T1, T2 and FLAIR: axial and coronal cuts to detect any structural abnormalities,

  6. Both control and epileptic patient will underwent genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:

    • DNA analysis:

Genomic DNA will be extracted from EDTA-anticoagulated peripheral blood (QIAamp DNA Blood mini kit,QIAGEN).

Study Type

Observational

Enrollment (Anticipated)

180

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Egypt
      • Mansoura, Egypt
        • Recruiting
        • Mansoura University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 years to 16 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

This retrospective case control study will be conducted on 120 epileptic patients treated with AEDs, 60 patients are drug responders and 60 patients are drug resistant. The control consists of 60 Age and gender matched healthy individual with negative past and family history of epilepsy and febrile convulsion.

Description

Inclusion Criteria:

  • Patient with diagnosis of epilepsy (idiopathic or cryptogenic/symptomatic), according to the International League Against Epilepsy classification confirmed by electroencephalogram.
  • Treatment with at least one AED, long enough to achieve the optimal dose; drug-resistance and drug-responsiveness, according to the criteria ILAE 2010.

Exclusion Criteria:

  • Patient with severe adverse anti-epileptic drug reactions.
  • Patient with unreliable records of seizure frequency.
  • Patient with poor compliance with AEDs,.
  • Patient with significant psychiatric comorbidity,
  • Patient with progressive systemic disorders .
  • Patient with history of alcohol or drug abuse.
  • Epileptic patients in clinical remission or with gradual withdrawal of therapy.
  • Epileptic patients with therapy titration phase.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Retrospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Drug responders
60 patients are drug responders
Genetic: Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:

DNA analysis: Genomic DNA will be extracted from EDTA-anticoagulated peripheral blood (QIAamp DNA Blood mini kit,QIAGEN).

Genotyping of SCN1A c.3184 A/G(rs2298771) polymorphism
Drug resistant
60 patients are drug resistant
Genetic: Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:

DNA analysis: Genomic DNA will be extracted from EDTA-anticoagulated peripheral blood (QIAamp DNA Blood mini kit,QIAGEN).

Genotyping of SCN1A c.3184 A/G(rs2298771) polymorphism
The control
The control consists of 60 Age and gender matched healthy individual with negative past and family history of epilepsy and febrile convulsion.
Genetic: Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:

DNA analysis: Genomic DNA will be extracted from EDTA-anticoagulated peripheral blood (QIAamp DNA Blood mini kit,QIAGEN).

Genotyping of SCN1A c.3184 A/G(rs2298771) polymorphism

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:
Time Frame: 5-7 days

• DNA analysis: Genomic DNA will be extracted from EDTA-anticoagulated peripheral blood (QIAamp DNA Blood mini kit,QIAGEN).

• Genotyping of SCN1A c.3184 A/G(rs2298771) polymorphism
5-7 days

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Mansoura University Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 1, 2019

Primary Completion (Anticipated)

October 1, 2020

Study Completion (Anticipated)

November 1, 2020

Study Registration Dates

First Submitted

November 14, 2019

First Submitted That Met QC Criteria

November 14, 2019

First Posted (Actual)

November 18, 2019

Study Record Updates

Last Update Posted (Actual)

November 18, 2019

Last Update Submitted That Met QC Criteria

November 14, 2019

Last Verified

November 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Mansoura University Hospital 6

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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