Combined dystonia

This study tests an investigational drug called relutrigine in 160 children with a severe form of epilepsy called developmental and epileptic encephalopathy (DEE). The goal is to see if the drug can safely reduce monthly seizure frequency compared to a placebo. After the initial …

This study is testing whether a new, more detailed DNA reading technique (long-read genome sequencing) can find genetic causes of dystonia that standard tests miss. Researchers will analyze blood samples from 150 people with dystonia and their family members. If it works, this co…

This study is testing a device called ViBandz, which uses small vibrating motors strapped to the body to provide vibration therapy. Researchers want to see if it is easy and comfortable for children with neurological conditions to use at home. The study will involve 30 children a…

This study looks at whether adjusting deep brain stimulation (DBS) can improve movement, speech, and swallowing in people already implanted with DBS for conditions like tremor, stroke, or traumatic brain injury. Researchers will test hand dexterity, grip strength, facial movement…

This study aims to understand the link between genes and symptoms in people with inherited movement disorders. Researchers will study up to 2,500 participants, including patients and their family members, to identify new disease-causing genes and improve diagnosis. The goal is to…

This natural history study is collecting information from up to 4,000 people with movement disorders (like Parkinson's disease or tremor) and their family members. Participants undergo exams, blood tests, and imaging, but receive no new treatments. The goal is to gather data that…

This study aims to find the genetic causes of movement disorders and dementias by analyzing DNA from up to 12,000 participants, including patients and their family members. Researchers will collect blood or saliva samples and look for gene mutations linked to these conditions. Th…

This study is gathering medical information and samples from up to 5,000 people with neurosurgical conditions like brain tumors, epilepsy, and Parkinson's disease. Participants receive standard care while their data is collected for future research. No new treatments are being te…

This study looks at brain activity in a person with a rare genetic condition called PRRT2 mutation, which causes sudden, uncontrollable movements. The participant will undergo brain scans (fMRI and EEG) during and after these episodes, and also when they voluntarily mimic the mov…

This study explores whether a non-invasive brain-computer interface (BCI) can help people with motor disorders, such as spinal cord injury or stroke, control assistive devices using their thoughts. Researchers will record brain signals with EEG and use machine learning to interpr…

This study is creating a shared database of children who have received deep brain stimulation (DBS) for movement disorders like dystonia, epilepsy, or Tourette syndrome. By pooling data from multiple hospitals, researchers hope to answer key questions about who benefits most and …

This study collects information from 500 children worldwide who have both epilepsy and movement disorders caused by specific gene changes. Researchers will analyze medical records to find patterns linking symptoms to genetics. The goal is to create a shared database that helps do…

This study aims to translate the Hypertonia Assessment Tool (HAT) into Turkish and check if it works correctly. The HAT helps doctors identify different types of increased muscle tone in children with motor disorders. Researchers will test the tool on 70 children under 18 who hav…

This study looks at how deep brain stimulation (DBS) — a treatment already used for movement disorders — affects voice and speech in people with laryngeal dystonia or voice tremor. Researchers will record brain signals during surgery and measure voice changes afterward. The goal …