Biology of Juvenile Myoclonic Epilepsy

Обзор

The investigators are collecting genetic information through blood samples as well as clinical and EEG data from over 1000 people with Juvenile Myoclonic Epilepsy (JME) across the UK, Europe and North America. This study will draw on both existing and new samples from JME patients. These will be compared to anonymised data from samples for 2000 controls. The goal of this study is to find the genetic cause of JME. Finding the cause will help create better treatments for JME, as well as improve patient outcomes by allowing us to detect it earlier.

Подробное описание

Epilepsy is a common neurological disorder affecting 1% of the population. There are over 30 types of epilepsy, some common, some rare. Most epilepsies arise in childhood and have a genetic cause. Approximately 40% of patients have the common forms of Genetic Generalised Epilepsy (GGE), and the commonest GGE is "Juvenile Myoclonic Epilepsy" or JME.

The goal of this study is to find the genetic cause for JME. The investigators will do this by comparing the genetic code in JME patients with that in people who do not have epilepsy. This study will use clues from their electroencephalograph or brainwave test that is used to help diagnose epilepsy. Participants will provide a single blood sample, along with permission to collect clinical data about their diagnosis and a copy of their clinical EEG. There is no direct benefit or risk to the research participants but the results from this study may help other people with epilepsy or brain impairments in the future.

There is overwhelming evidence that JME is caused by changes in genetic code. These changes are likely to be found in more than just one gene and there may be more than one type of change. In order to find these changes, this study will look at a large number of people with JME and compare their genetic code with people who do not have epilepsy. Finding the causes of JME will lead to better understanding of its cause, new treatments, and tailoring of treatments according to a person's genetic make-up.

Вмешательства

• Другое Blood draw
  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.
• Другое Existing samples
  Control DNA samples will be used that have been previously acquired in other studies.

Первичные конечные точки

• Genomewide DNA association study [Срок оценки: Day 1]

Вторичные конечные точки (1)

• Quantitative EEG endophenotype [Срок оценки: Day 1]

Критерии участия

Критерии включения

• Diagnosis of Juvenile Myoclonic Epilepsy in accordance with Consensus criteria

• Age of myoclonus onset 10-25 years
• Seizures comprising predominant or exclusive early morning myoclonus of upper extremities
• EEG interictal generalized spikes and/or polyspike and waves with normal background
• Current age 10-40 years

Критерии исключения

• Myoclonus only associated with carbamazepine or lamotrigine therapy
• EEG showing predominant focal interictal epileptiform discharges or abnormal background
• Any evidence of progressive or symptomatic myoclonus epilepsy or focal seizures
• Global learning disability
• Dysmorphic syndrome
• Unable to provide informed consent

Regrettably, we are currently unable to accept self-referrals to the BIOJUME study.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Случай-контроль

Центры проведения

Великобритания · 5 центров

• Walton Centre for Neurology and Neurosurgery — Liverpool
• Royal London Hospital — London
• St Thomas' Hospital — London
• King's College Hospital NHS Trust — London
• Swansea University — Swansea

США · 3 центра

• Mount Sinai-Beth Israel Medical Center — New York
• St Luke's Roosevelt Hospital — New York
• Nationwide Children's Hospital — Columbus

Канада · 1 центр

• Hospital for Sick Kids — Toronto

Чехия · 1 центр

• Charles University — Prague

Дания · 1 центр

• Danish National Epilepsy Centre — Dianalund

Эстония · 1 центр

• Tallinn Children's Hospital — Tallinn

Франция · 1 центр

• University Robert Debré — Paris

Италия · 1 центр

• Commissione Genetica Lega Italiana contro l'Epilepssia — Roma

Норвегия · 1 центр

• Vestre Viken Health Trust, Oslo — Drammen

Идентификаторы

NCT: NCT03400371 · 199351 · CIHR ID: MOP-142405

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

Открыть это исследование на ClinicalTrials.gov ↗