NCT03547050

Brief Summary

We have discovered a small change in the genetic code which increases the risk of the brainwave abnormality that is found in rolandic epilepsy. We now wish to confirm this using a second much larger sample of patients. We will investigate the other genetic changes that cause people with the brainwave abnormality to develop seizures, as well as problems with speech, coordination, attention and learning.

Trial Health

93
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
210

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jun 2018

Longer than P75 for all trials

Geographic Reach
7 countries

13 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

May 24, 2018

Completed
8 days until next milestone

Study Start

First participant enrolled

June 1, 2018

Completed
5 days until next milestone

First Posted

Study publicly available on registry

June 6, 2018

Completed
4.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 17, 2023

Completed
4 months until next milestone

Study Completion

Last participant's last visit for all outcomes

June 30, 2023

Completed
Last Updated

October 6, 2023

Status Verified

March 1, 2023

Enrollment Period

4.8 years

First QC Date

May 24, 2018

Last Update Submit

October 5, 2023

Conditions

Rolandic Epilepsy

Keywords

EpilepsyRolandicGeneticsGenomewide Association StudyRENeurologyPediatrics

Outcome Measures

Primary Outcomes (1)

  • Allelic association p value corrected for genome wide testing

    We will look to see if there are changes in the genetic code that cause brainwave abnormalities close to the genetic changes that we have already discovered.

    Day 1

Study Arms (2)

Patients diagnosed with RE

People who meet the eligibility requirements and have been diagnosed with rolandic epilepsy.

Other: Blood draw

Controls

People without a lifetime history of seizures.

Other: Existing samples

Interventions

Blood drawOTHER

Participation includes one visit for one blood draw per recruited patient. 10-20ml peripheral venous blood will be taken from the antecubital fossa. The DNA from the blood sample will then be extracted and resequenced for analysis.

Patients diagnosed with RE
Existing samplesOTHER

Control DNA samples will be used that have been previously acquired in other studies.

Controls

Eligibility Criteria

Age6 Years - 25 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Target population is 3,000 participants with a diagnosis of Rolandic Epilepsy (1,000 UK).

You may qualify if:

  • Diagnosis of Rolandic Epilepsy in accordance with the following international criteria:
  • Age of first afebrile seizure 3-12 years
  • Seizures comprising focal sensorimotor seizures affecting the vocal tract and face, with or without involvement of the arm
  • Predominant sleep-related seizures
  • EEG interictal centro-temporal spikes with normal background
  • Current age 6-25 years

You may not qualify if:

  • No history of focal seizure
  • Normal EEG or abnormal background features on EEG
  • Known structural causes (stroke, tuberous sclerosis, infection, post-infectious or metabolic)
  • Primary diagnosis of autism or global learning disability
  • Focal central neurological deficit on clinical exam,
  • Unable to provide informed consent
  • Unable to provide blood sample

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (13)

Columbia University Medical Center

New York, New York, 10032, United States

Location

Hasbro Children's Hospital

Providence, Rhode Island, 02903, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

Dr. Juan P. Garrahan Children's Hospital

Buenos Aires, C 1245, Argentina

Location

Hospital for Sick Kids

Toronto, Ontario, M5G 0A4, Canada

Location

Aghia Sophia Children's Hospital of Athens

Athens, 115 27, Greece

Location

Sicilian Epilepsy Network

Catania, 95124, Italy

Location

Commissione Genetica Lega Italiana contro l'Epilepssia

Roma, 00198, Italy

Location

Hospital Mutua de Terrassa

Barcelona, 08221, Spain

Location

Cardiff University School of Medicine

Cardiff, CF14 4XN, United Kingdom

Location

Guy's and St Thomas' NHS Foundation Trust

London, SE1 9HT, United Kingdom

Location

King's College Hospital NHS Foundation Trust

London, SE5 8RX, United Kingdom

Location

Swansea University College of Medicine

Swansea, SA2 8PP, United Kingdom

Location

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood

MeSH Terms

Conditions

Epilepsy, RolandicEpilepsy

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Epilepsies, PartialBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesEpileptic Syndromes

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
OTHER
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 24, 2018

First Posted

June 6, 2018

Study Start

June 1, 2018

Primary Completion

March 17, 2023

Study Completion

June 30, 2023

Last Updated

October 6, 2023

Record last verified: 2023-03

Locations

GR(1)GB(4)ES(1)IT(2)CA(1)US(3)AR(1)