Aceruloplasminemia

This study tests a device called PRIMA, which is implanted under the retina to help people with inherited retinal diseases like Stargardt disease and retinitis pigmentosa see better. The trial will enroll 5 adults with severe central vision loss and measure improvements in visual…

This study tests whether injecting a person's own bone marrow stem cells into or near the eye can help treat various retinal and optic nerve diseases, including age-related macular degeneration, retinitis pigmentosa, and glaucoma. Participants receive stem cell injections via dif…

This study tests a new eye imaging device (VG200D OCT) that takes detailed pictures of the retina. It compares these images to standard dye-based images (FA/ICGA) to see if the new device works just as well. About 30 adults with retina problems will take part. The goal is to see …

This study tests a special camera that takes detailed images of the retina using many wavelengths of light. Researchers hope it can find early signs of eye diseases like age-related macular degeneration, diabetic retinopathy, and glaucoma. About 1,000 adults in Melbourne, Austral…

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 early-stage study tests a new drug called APG-5918 in healthy volunteers and people with anemia (low red blood cells). The main goal is to check safety and how the body handles the drug, while also seeing if it can raise hemoglobin levels. About 105 participants will take pa…

This study tests whether adding emotional regulation therapy (ERT) to standard low vision rehabilitation (LVR) helps people with inherited retinal diseases who feel anxious or distressed about their vision. About 180 participants will receive LVR, which includes free vision-enhan…

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 looks at whether disulfiram (Antabuse), a drug used for alcohol use disorder, can improve vision in people with retinal degeneration (like macular degeneration or retinitis pigmentosa). Researchers believe it may calm overactive cells in the retina. The study involves …

This international study aims to collect genetic and health information from 1,500 people with rare inherited retinal diseases like retinitis pigmentosa. It has two parts: a registry to gather genetic and vision data, and a natural history study that follows participants over tim…

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 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 study aims to collect information and bone samples from up to 1,000 people with bone or mineral disorders, such as tumor-induced osteomalacia or familial tumoral calcinosis. Participants receive standard medical evaluations and may provide bone tissue from surgery or a biops…

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 children in Vietnam who have movement disorders—like tremors, jerks, or coordination problems—with no known cause. Researchers will collect medical information and blood samples to search for genetic changes that might explain these conditions. The goal is to …

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 uses a special camera (adaptive optics) to take detailed pictures of the back of the eye in people with inherited retinal diseases. Researchers want to see how individual cells change over time and after treatments. About 200 participants aged 5 to 70 will be observed,…

This study enrolls 25 people with severe retinal diseases like retinitis pigmentosa and Stargardt disease to test new ways of measuring visual function. Researchers will evaluate how well participants can perform various vision tests, such as navigating obstacles or detecting lig…

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 looks at whether doctors at Siriraj Hospital follow a new guideline for treating anemia in patients before major surgery. Anemia is common in surgical patients and can lead to more blood transfusions and worse outcomes. The researchers will track 93 anemic patients to …

This study gathers eye scan images from 180 people with healthy eyes or eye diseases like glaucoma and retinal disease. The goal is to collect data using a new optical coherence tomography (OCT) device called A10900. No treatment or medication is given. The information will help …

This study looks at how color vision changes over time in people with inherited retinal diseases (IRDs). Researchers will study 200 participants, including those with IRDs and healthy volunteers, to see how color vision loss relates to changes in the retina's structure. They are …

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 is observing 1000 adults having moderate- to high-risk surgery to see if the type and severity of anemia they have before surgery affects their risk of complications like heart injury, kidney injury, or stroke. Researchers will compare patients with iron-deficiency ane…