Joubert syndrome 5

This study tests whether custom 3D-printed cutlery handles can help people with neurodegenerative diseases eat more independently. 75 patients in rehabilitation care will try handles in different sizes, designed to fit their grip. Researchers will measure changes in eating abilit…

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 combining two types of non-invasive brain stimulation can improve balance and coordination in people with ataxia, a condition that affects movement. Researchers will enroll 30 adults with a confirmed ataxia diagnosis. Participants will receive a combinati…

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 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 looks at people with brain damage from strokes, tumors, or other conditions to understand why they have specific thinking problems. Researchers will use brain scans and cognitive tests to link brain areas to deficits. The goal is to learn more about how the brain works…

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

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 gathers medical information from 200 adults with possible nerve, muscle, or autonomic nervous system disorders who are not already in other NIH studies. Participants undergo standard tests like nerve conduction studies, EMG, and physical exams. The data is stored anony…

This study is looking at how people with conditions like schizophrenia, bipolar disorder, depression, and neurological diseases (such as Alzheimer's or stroke) perform on computer-based thinking tests. The goal is to create a detailed map of cognitive strengths and weaknesses acr…

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 whether using a swallow gel or a semi-solid vehicle can help people with neurological conditions swallow pills more easily and safely. Researchers will observe 500 participants, including patients with swallowing disorders and healthy volunteers, as they swall…

This study looks at the genetic causes of nephronophthisis, a rare kidney disease that leads to kidney failure before age 20. Researchers will collect urine and blood samples from 310 patients and healthy relatives to study cells and identify potential drug targets. The goal is t…

This study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…