Myoclonic epilepsy

This Phase 3 trial tests a single inhaled dose of alprazolam (a fast-acting sedative) to stop prolonged seizures in people aged 12 and older. The goal is to see if it can end a seizure within 90 seconds and prevent it from coming back for at least 2 hours. About 350 participants …

This trial is testing the long-term safety of brivaracetam, an anti-seizure medication, when used alongside other epilepsy treatments in children. Researchers are monitoring for side effects, including serious ones, over an extended period. The study includes children who previou…

This study tests a new drug called ION283 in 10 people aged 10 to 18 with Lafora disease, a rare and severe form of epilepsy. The drug is given via a spinal injection to see if it is safe and can help control seizures and other symptoms. All participants will receive the same dos…

This study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …

This study investigates how rehearsal (repeating information) and sleep help solidify memories in people with epilepsy. Participants learn object-location pairs, with some pairs rehearsed and others not, and their memory is tested after a short delay and again after 12 hours—eith…

This study looks back at 483 patients who had small rectal neuroendocrine tumors (less than 2 cm) removed using one of two endoscopic techniques: endoscopic submucosal dissection (ESD) or endoscopic partial muscle resection (EPMR). The goal is to compare how often each method lea…

This study is following 200 people with a confirmed genetic diagnosis of EPM1, a rare and progressive epilepsy disorder. Researchers will collect clinical data and biological samples (blood and urine) over time to understand how the disease progresses. The goal is to identify bio…

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…

This study uses powerful MRI scanners to look at the brains and spinal cords of 700 people, including healthy volunteers and those with conditions like multiple sclerosis, Alzheimer's, and Parkinson's. The goal is to understand why some brains stay healthy while others decline. R…

This study aims to find the genetic causes of juvenile myoclonic epilepsy (JME) by collecting blood samples from over 1,000 people with JME across the UK, Europe, and North America. Researchers will compare their DNA to samples from 2,000 healthy controls. The goal is to improve …