Inherited 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 early-stage trial is testing a new drug called ziftomenib combined with standard chemotherapy or another targeted drug for people with relapsed or treatment-resistant acute myeloid leukemia (AML) that has specific genetic changes. The main goal is to see if these combination…

This early-stage trial is testing an experimental drug called ziftomenib alongside standard treatments for acute myeloid leukemia (AML) in people with specific gene mutations. About 420 participants with newly diagnosed or relapsed AML will be assigned to one of three treatment a…

This early-stage study tests whether MRI-guided focused ultrasound can safely treat task-specific focal hand dystonia, a condition that causes hand cramps during activities like writing or playing an instrument. Ten adults who have not improved with standard treatments will recei…

This study tests a non-invasive procedure called focused ultrasound for adults with limb dystonia that hasn't improved with medication or Botox. The treatment uses sound waves to create a tiny lesion in a brain area that controls movement. Researchers will compare real treatment …

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 computer program called DystoniaNet that uses artificial intelligence to help doctors diagnose isolated dystonia, a movement disorder. The trial will enroll 1000 people with dystonia or other conditions that look like it, such as Parkinson's disease or ess…

This phase 2 trial tests whether VIM0423, a combination of two drugs, can reduce symptoms of isolated dystonia (a movement disorder causing muscle spasms). About 100 adults aged 18-65 with dystonia in at least two body areas will receive either VIM0423 or a placebo. Researchers w…

This study looks at whether doing resistance exercises (like leg presses) can reduce swelling in the lower legs of people with lymphedema. It also checks if wearing compression garments during exercise makes a difference. Thirty-six adults with lower limb lymphedema will exercise…

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 tests whether injections of Xeomin (a botulinum toxin type A) can reduce hand cramps in people with focal hand dystonia, a condition that causes involuntary muscle contractions. About 48 adults will receive either Xeomin or a placebo injection into hand muscles. The ma…

This study tests whether adding aerobic exercise to standard lymphedema therapy (complex decongestive physiotherapy) can improve walking, balance, leg strength, and daily function. Twenty-four adults with bilateral lower limb lymphedema will be randomly assigned to either standar…

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 watches 200 people with isolated dystonia (affecting more than one body part) to see how the condition changes over time. Researchers will collect information on symptoms, daily activities, pain, and social life using standard rating scales. No experimental treatment i…

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 uses brain scans and genetic tests to explore why different forms of focal dystonia develop. Researchers will compare brain activity and structure in people with dystonia, their unaffected relatives, and healthy volunteers. The goal is to identify unique brain markers …

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 …