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Epilepsy, Drug ResistantNCT04166305

Drug Resistant Epilepsy: Clinical and Genetic Study

An observational study of Epilepsy, Drug Resistant, run by Mansoura University Hospital at 1 site in Egypt.

Unknown status

Status not confirmed. The sponsor has not verified this record for over two years, so it may be out of date.

Official record
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Trial summary

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. Read more about this study

Who is it for?
Ages 6 to 16 yearsHealthy volunteers can take part
Conditions the study is for
Epilepsy, Drug Resistant
What is being tested?
Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:
How many people
180 participants
Where
1 siteEgypt
Study dates
1 Nov 2019to 1 Nov 2020
Phase
Observational
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 6 to 16 years
  • All sexes
  • Healthy volunteers accepted
  • Child

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.

Who may be able to join

  • 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.

Who cannot join

  • 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.

Trial locations and contacts

1 site in 1 country.

Esmael M Ahmed, MD contact

00201000372787

deltaneuro@yahoo.com

Egypt1 site, 1 recruiting
  • Mansoura University Hospital

    Al Mansurah

    Esmael M Ahmed, MD, 00201000382898, deltaneuro@yahoo.com

    Recruiting

Other trials in Egypt

About this study

Official title: 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.

Read the 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).

Being tested
Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:
Keywords
Epilepsy, genetic and drug resistant
Medical subject headings
Drug Resistant Epilepsy, Epilepsy

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:Genetic

    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

Study groups in NCT04166305
Study groupRoleWhat they receive
Drug responders60 patients are drug responders
Receives: Genetic: Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:
Drug resistant60 patients are drug resistant
Receives: Genetic: Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:
The controlThe control consists of 60 Age and gender matched healthy individual with negative past and family history of epilepsy and febrile convulsion.
Receives: Genetic: Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 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

    Measured: 5-7 days

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted18 Nov 2019
  2. Study start1 Nov 2019
  3. Primary completion1 Oct 2020 (estimated)
  4. Study completion1 Nov 2020 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Case-control
Time perspective
Retrospective
Enrolment
180 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT04166305
Sponsor's protocol ID
Mansoura University Hospital 6
Status last verified
Nov 2019
First submitted
14 Nov 2019
Last updated
18 Nov 2019
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • He X, Li Y, Liu Z, Yue X, Zhao P, Hu J, Wu G, Mao B, Sun D, Zhang H, Song X, Wang Y, Shao J. The association between CCL2 polymorphisms and drug-resistant epilepsy in Chinese children. Epileptic Disord. 2013 Sep;15(3):272-7. doi: 10.1684/epd.2013.0603.

    PubMed 23996681
  • Kumari R, Lakhan R, Garg RK, Kalita J, Misra UK, Mittal B. Pharmacogenomic association study on the role of drug metabolizing, drug transporters and drug target gene polymorphisms in drug-resistant epilepsy in a north Indian population. Indian J Hum Genet. 2011 May;17 Suppl 1(Suppl 1):S32-40. doi: 10.4103/0971-6866.80357.

    PubMed 21747585
  • Kasperaviciute D, Sisodiya SM. Epilepsy pharmacogenetics. Pharmacogenomics. 2009 May;10(5):817-36. doi: 10.2217/pgs.09.34.

    PubMed 19450130
  • Kwan P, Arzimanoglou A, Berg AT, Brodie MJ, Allen Hauser W, Mathern G, Moshe SL, Perucca E, Wiebe S, French J. Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies. Epilepsia. 2010 Jun;51(6):1069-77. doi: 10.1111/j.1528-1167.2009.02397.x. Epub 2009 Nov 3.

    PubMed 19889013
  • Lakhan R, Kumari R, Misra UK, Kalita J, Pradhan S, Mittal B. Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population. Br J Clin Pharmacol. 2009 Aug;68(2):214-20. doi: 10.1111/j.1365-2125.2009.03437.x.

    PubMed 19694741
  • Lorigados Pedre L, Morales Chacon LM, Orozco Suarez S, Pavon Fuentes N, Estupinan Diaz B, Serrano Sanchez T, Garcia Maeso I, Rocha Arrieta L. Inflammatory mediators in epilepsy. Curr Pharm Des. 2013;19(38):6766-72. doi: 10.2174/1381612811319380009.

    PubMed 23530510
  • Manna I, Gambardella A, Bianchi A, Striano P, Tozzi R, Aguglia U, Beccaria F, Benna P, Campostrini R, Canevini MP, Condino F, Durisotti C, Elia M, Giallonardo AT, Iudice A, Labate A, La Neve A, Michelucci R, Muscas GC, Paravidino R, Zaccara G, Zucca C, Zara F, Perucca E. A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. Epilepsia. 2011 May;52(5):e40-4. doi: 10.1111/j.1528-1167.2011.03097.x.

    PubMed 21561445
  • Marchi N, Granata T, Freri E, Ciusani E, Ragona F, Puvenna V, Teng Q, Alexopolous A, Janigro D. Efficacy of anti-inflammatory therapy in a model of acute seizures and in a population of pediatric drug resistant epileptics. PLoS One. 2011 Mar 28;6(3):e18200. doi: 10.1371/journal.pone.0018200.

    PubMed 21464890
  • Pohlmann-Eden B, Weaver DF. The puzzle(s) of pharmacoresistant epilepsy. Epilepsia. 2013 May;54 Suppl 2:1-4. doi: 10.1111/epi.12174.

    PubMed 23646961
  • Sanchez MB, Herranz JL, Leno C, Arteaga R, Oterino A, Valdizan EM, Nicolas JM, Adin J, Armijo JA. Genetic factors associated with drug-resistance of epilepsy: relevance of stratification by patient age and aetiology of epilepsy. Seizure. 2010 Mar;19(2):93-101. doi: 10.1016/j.seizure.2009.12.004. Epub 2010 Jan 12.

    PubMed 20064729
  • Tellez-Zenteno JF, Hernandez-Ronquillo L, Buckley S, Zahagun R, Rizvi S. A validation of the new definition of drug-resistant epilepsy by the International League Against Epilepsy. Epilepsia. 2014 Jun;55(6):829-34. doi: 10.1111/epi.12633. Epub 2014 May 14.

    PubMed 24828683
  • Wirrell EC. Predicting pharmacoresistance in pediatric epilepsy. Epilepsia. 2013 May;54 Suppl 2:19-22. doi: 10.1111/epi.12179.

    PubMed 23646966
  • Walker L, Sills GJ. Inflammation and epilepsy: the foundations for a new therapeutic approach in epilepsy? Epilepsy Curr. 2012 Jan;12(1):8-12. doi: 10.5698/1535-7511-12.1.8.

    PubMed 22368518

Questions about this trial

What is this clinical trial studying?

An observational study of Epilepsy, Drug Resistant, run by Mansoura University Hospital 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 2 inclusion and 8 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: status not confirmed, as of the sponsor's last update on 18 Nov 2019. 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.

Are results available for this study?

Results are not available in the source record.

How can a doctor refer a patient or contact the research team?

Contact Esmael M Ahmed, MD (00201000372787, deltaneuro@yahoo.com), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism: (time frame: 5-7 days). 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 NCT04166305, which also lists 13 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 Nov 2019.

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