Aceruloplasminemia

This study tests a new type of stem cell transplant for children with primary immune deficiencies or inherited metabolic disorders. The transplant uses stem cells from a half-matched family donor, which are specially processed to remove certain immune cells. The goal is to see if…

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 bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This study tests whether testicular tissue frozen before puberty can be transplanted back into adult men to restore sperm production. Five men who had fertility-threatening treatments as children will receive their own preserved tissue. The goal is to see if sperm can be found in…

This study is checking whether unlicensed cord blood units are safe to use for stem cell transplants in children and adults with blood disorders. Researchers will closely watch for any infusion-related problems. The goal is to see if these units can be a safe option for patients …

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 the drug lusutrombopag can help restore platelet levels faster in patients who have had a stem cell transplant for blood disorders. About 45 adults will receive the drug after transplant, and doctors will check platelet counts at 21 days. The goal is to i…

This study compares a new approach to managing infections in nursing home residents with dementia against usual care. The goal is to see if the new method reduces antibiotic use and avoids stressful procedures like hospital transfers. About 750 residents aged 60 and older with de…

This study tests whether a non-invasive brain stimulation technique called TMS can help people with mental illness quit smoking. Forty daily smokers with psychiatric conditions will receive either TMS or standard care. The goal is to see if TMS is practical and effective in real-…

This study is for adults with blood disorders who are getting a stem cell transplant from a matched donor. Researchers want to see if giving a special potato starch along with a drug that lowers iron (deferasirox) can help prevent serious complications like graft-versus-host dise…

This program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

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 tests a new PET imaging method that uses 10 to 100 times less radiation than current scans to detect Alzheimer's disease and other dementias. Researchers will scan 200 adults (including healthy volunteers) after injecting a radioactive tracer, aiming to see if shorter …

This study is testing a new eye imaging device called the VG200D, which uses advanced technology to take detailed pictures of the eye. Researchers want to see if it works as well as a standard device for measuring parts of the eye in people with glaucoma, retina problems, corneal…

This study is testing a smartphone app that records and analyzes speech to help diagnose and monitor neurodegenerative conditions like dementia, Parkinson's disease, multiple sclerosis, and motor neuron disease. Researchers will compare speech patterns from 150 people with these …

This study tests whether a safe, non-invasive brain stimulation technique called transcranial magnetic stimulation (TMS) can improve working memory in people with dementia. The stimulation is timed to each person's brain waves, measured by EEG, to help brain regions communicate b…

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 tests a program called SKILLS that focuses on common factors across different mental health conditions, rather than treating each disorder separately. About 60 adults with stable psychiatric diagnoses will take part. The goal is to see if this approach reduces symptoms…

This study compares two support programs for family and friends caring for Veterans with dementia after a hospital stay. One program, Hospital GamePlan4Care, offers a handbook, online training, and phone coaching tailored to the caregiver. The other provides general education and…

This study tests whether combining mental exercises (cognitive stimulation therapy) with physical activities (motor stimulation) can improve thinking and mobility in people with mild-to-moderate dementia. About 421 participants aged 65 and older will attend 14 sessions over 7 wee…

This study tests whether listening to personalized music enhanced with binaural beats (sound patterns that may influence brain waves) or spatialized (3D-like) audio can reduce behavioral and psychological symptoms of dementia, such as agitation and anxiety. Researchers will enrol…

This study tests an online education program called iSupport-Korea, designed for family caregivers of people with dementia. About 160 caregivers will be randomly assigned to use the program or receive usual support, and researchers will track changes in their well-being and confi…

This study is testing a culturally adapted online education program called Tele-Savvy for Latino caregivers of people with Alzheimer's or related dementias. The program includes weekly video group sessions and short instructional videos over seven weeks. Researchers want to see i…

This study tests whether a virtual, home-based exercise program can reduce depression and anxiety in family caregivers of people with Alzheimer's disease. Twenty-five caregivers will be randomly assigned to either the exercise program or a wait-list group. The program includes we…

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 cognitive stimulation therapy (CST) delivered by trained volunteers can improve thinking and quality of life for people with mild to moderate dementia. 520 participants in Hong Kong will either receive 7 weeks of volunteer-led CST sessions or continue wit…

This study tests whether a non-invasive brain stimulation technique called tDCS, combined with cognitive training, can improve thinking skills and mood in people with mild cognitive impairment or early dementia. Fifty participants will receive both real and placebo stimulation in…

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 small pilot study tests whether repetitive transcranial magnetic stimulation (rTMS), a non-invasive brain stimulation technique, can reduce apathy in people with dementia or mild cognitive impairment. Ten participants will receive rTMS, some also taking the medication methyl…

This study tests a program called Connect-Home ADRD that helps nursing home staff and caregivers support dementia patients when they move to home, assisted living, or long-term care. About 360 patients and their caregivers will take part. The goal is to see if the program reduces…

This study tests a workshop series designed for people aged 60 and older with early-stage memory loss who live alone. The program provides education and skills training via Zoom to reduce stress, improve well-being, and help with future planning. Researchers will gather feedback …

This study is testing whether a virtual reality version of a therapy exercise is practical and helpful for adults (ages 18-65) with psychiatric disorders. Participants will try one VR session and answer questions about their experience. The goal is to see if this approach is acce…

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 is testing a type of talk therapy called Emotion Regulation Therapy (ERT) delivered over video for people in New York who struggle with worry, overthinking, or being hard on themselves. The goal is to see if the therapy helps people better manage their emotions and fee…

This study is testing a mobile app called CarePair that helps family caregivers of people with dementia find services and support. About 80 caregivers will use the app for six weeks to see if it is easy to use and helps reduce stress and depression. The goal is to see if the app …

This study looks at how well and how safely a new sleep medication, lemborexant, works for people who have both a mental health condition and trouble sleeping. About 121 adults will take the drug for 8 weeks, and researchers will track changes in their sleep quality and any side …

This study tests whether sailing can help people with psychiatric disorders feel better. Forty adults in France will either take sailing lessons or continue their usual care. Researchers will measure changes in quality of life, mental well-being, and self-esteem to see if sailing…

This study tests a program called COTID, where an occupational therapist visits the homes of older adults with dementia who have recently been hospitalized for a fall. The therapist helps make the home safer and trains the caregiver to support the patient. The goal is to see if t…

This study tests if a liquid medicine called midazolam can help elderly patients with moderate to severe memory problems who refuse care. About 30 hospitalized patients will receive the medicine before care to see if it reduces their resistance. The goal is to make necessary care…

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 tests whether a gentle electrical current applied to the scalp (called transcranial electrical stimulation) can improve memory and thinking in people with dementia. Two hundred participants will receive different types of stimulation (tACS or tRNS) while doing memory g…

This study tests a program that teaches family caregivers how to help their loved ones with mild to moderate dementia manage chronic pain. Researchers will work with 60 people (30 patients and their caregivers) to see if the training improves pain coping and quality of life. The …

This study tests whether a personal sound amplifier, along with hearing training, can reduce troubling symptoms like agitation and distress in older adults with Alzheimer's or related dementias who also have hearing loss. Researchers will enroll 300 people aged 60-100 and their c…

This study tests whether mild electrical stimulation on the scalp, combined with memory games on an iPad, can improve thinking and memory in people with dementia. About 100 older adults with mild to moderate dementia will receive either real or fake stimulation to see which works…

This study tests an 8-week online program called STELLA-R that teaches dementia caregivers a simple ABC method to understand and respond to upsetting behaviors. About 238 caregivers in Oregon, Washington, and Idaho will try the program and report how it affects their stress and r…

This study tests an online course for people who have recently become caregivers for a family member or friend with dementia. The program includes weekly video sessions and self-paced materials to help caregivers feel more confident and less stressed. Researchers will measure cha…

This study is adapting a program called SHARE to better support African-American families dealing with early to moderate dementia. Researchers will work with 120 pairs of people with dementia and their caregivers to test the adapted program. The goal is to see if the program is h…

This study explores whether personalised music playlists can help improve behavioural and psychological symptoms in people with dementia. Researchers will work with care home residents and families to create custom playlists and monitor emotional responses. The goal is to develop…

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 study collects blood stem cells and immune cells from healthy volunteers and patients with primary immune deficiencies or blood disorders. The cells are used in the lab to develop new gene and cell therapies. Up to 850 adults aged 18-70 will participate. The goal is to advan…

This study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

This study is creating a large collection of health information and biological samples (like blood, saliva, and eye tissue) from people with and without retinal diseases. Researchers aim to use this database to better understand conditions like age-related macular degeneration an…

This study at Necker Hospital in Paris is checking how well patients with inherited metabolic diseases follow their daily oral medication routines. About 200 patients (children aged 7 and up, teens, and adults) will fill out a questionnaire during a regular visit. The goal is to …

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 study screens people with eye diseases to see if they can join other research studies at the National Eye Institute. No treatment is given. Participants undergo eye exams, blood tests, and other procedures to diagnose or evaluate their condition. The goal is simply to determ…

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 collects blood, bone marrow, urine, and tissue samples from up to 6,000 people with solid tumors, blood cancers, or non-cancerous blood disorders, as well as from their healthy family members who are stem cell donors. The samples are stored and used in research to bett…

This study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

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 looks for better ways to detect lung inflammation and infections early in people who have received a stem cell transplant from a donor. About 40 participants aged 5 to 70 will get regular lung scans, breathing tests, blood draws, and a procedure where a tube collects f…

This study looks at early changes in mitochondria (the energy centers of cells) and metabolic markers in blood cells of people with Alzheimer's or related dementias. Researchers will compare these measures between those with and without Alzheimer's to find clues about how the dis…

This study tests a special camera that takes super-detailed pictures of the back of the eye (the retina). The goal is to see if this technology can find eye diseases earlier than standard methods. Up to 1,000 people aged 12 and older, with or without eye disease, will have their …

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 compares two ways to help adults with mental health issues get follow-up care. One group gets usual care after an emergency room visit, while the other uses a new system that books a psychiatrist appointment within 48 hours through their general doctor. Researchers wil…

This study looks at the mental health of 200 teenagers aged 12 to 16 who attend special educational institutes (ITEPs) in France. Researchers will use psychiatric interviews to find out how many have conditions like depression or anxiety. The goal is to better understand their ne…

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This study aims to improve suicide prevention for people who move between healthcare and the criminal-legal system. Researchers will link health records, Medicaid data, and jail booking information to identify individuals at risk and coordinate care. Over 1,000 adults with past p…

This study aims to learn more about eye diseases by observing and providing standard care to up to 1,000 people over 5 years. Participants receive regular eye exams, tests, and treatments as needed. The goal is to better understand how eye diseases progress and are inherited, not…

This study looks at how well people with retinal diseases like retinitis pigmentosa and Stargardt's disease see in the dark. Researchers want to find out if measuring dark adaptation can help detect and track these conditions. Healthy volunteers and people with retinal disease ag…

This study is testing a new, non-invasive ultrasound technique called Tissue Pulsatility Imaging (TPI) to measure tiny brain movements. Researchers will compare these measurements in 300 people with mild versus major cognitive disorders. The goal is to see if brain pulse patterns…

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 is a large registry that collects health information from up to 200,000 people with blood disorders such as hemophilia, thrombosis, and sickle cell disease. Participants are seen at Hemophilia Treatment Centers across the U.S. The goal is to gather real-world data to h…

This study tests a new AI-powered conversation tool called LUMEN. It helps caregivers describe changes in a loved one's memory and thinking. The goal is to see if the tool is easy to use and can improve the quality of information doctors receive. Sixty caregivers and doctors will…

This study tests whether a special training toolkit helps doctors and nurses have better conversations about future medical care with people living with Alzheimer's or related dementias. The researchers will compare clinics that use the toolkit to those that continue usual care, …

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 is testing a web-based platform called LEAD that helps people in the early stages of Alzheimer's or dementia talk about and document their end-of-life care preferences. The goal is to make it easier for them and their care partners to feel confident in making future me…

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 a program with a nurse case manager can help people leaving prison visit a doctor or clinic instead of the emergency room. About 488 adults with a history of substance use and a chronic health condition will take part. Some will get extra support from …

This study looks at how gut bacteria and the immune system interact in children and adults receiving stem cell transplants or CAR-T therapy. Researchers will collect stool and blood samples over time to find patterns linked to complications like infections or graft-versus-host di…

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 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 tests whether artificial intelligence can create simple summaries of eye doctor notes that are easier for patients to understand. About 460 English-speaking adults receiving eye care will get either standard notes or notes plus an AI-generated plain language summary. P…

This study is following 1,200 people from two memory clinics in Paris to see how sleep patterns, daily routines, and other personal factors relate to different types and stages of dementia. Participants will wear an activity tracker, answer questionnaires, and have cognitive test…

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 uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

This study follows 102 women who had fertility preservation before cancer treatment to see what happens long-term. Researchers want to know if they get pregnant naturally, use stored eggs or tissue, or decide not to have children. The goal is to improve support and care for femal…

This study tests a new 4D microscope-integrated OCT system for the first time in people during eye surgery. Researchers want to see if the system is easy to use, safe, and can clearly show eye structures. Five adults having eye surgery will take part. The goal is to improve imagi…

This study is collecting long-term safety and effectiveness data on treatments for various blood disorders, including hemophilia, sickle cell disease, and clotting disorders. It aims to enroll 3000 people of any age with these conditions. Researchers will monitor side effects, co…

This study is creating a collection of blood samples from 2,000 people with various blood disorders. The samples will be stored and used for future research approved by an ethics board. No treatments or drugs are being tested, and participants continue their normal care.

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 looks at how dementia and mild cognitive impairment (MCI) affect thinking, daily activities, and mood. Researchers will assess 151 adults aged 50-86 with these conditions to better understand their challenges. The goal is to improve care by tailoring treatments to each…

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 looks at families who carry a change in the DDX41 gene, which may raise the risk of blood cancers like leukemia. Researchers will collect health questionnaires and saliva samples from up to 910 people to track who develops blood problems and when. The goal is to better…

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 gathers standard eye movement and pupil data from 200 healthy volunteers, children, and people with eye or brain conditions using a VR headset called neos™. The headset shows images and tracks where participants look, how their pupils react, and how their eyes move. Th…

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…

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 how often young children (ages 1 to 6) with inherited metabolic diseases develop eating disorders when they are on special diets. Researchers will use a feeding scale to measure eating problems in 200 children. The goal is to understand the link between these …

This study looks at using a needle placed into the bone marrow (intraosseous infusion) to give fluids and medicines quickly to critically ill patients with blood diseases. Researchers will enroll 52 adults aged 18-65 to see how often the first attempt works and how safe it is. Th…

This study tests a new, more comfortable eye camera (WiSLO) designed for children and adults. Researchers want to see if it takes better pictures and is less bothersome than current cameras. About 42 people with or without eye disease will have their eyes photographed with both t…

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

This study is a registry that tracks patients with blood diseases who receive stem cell transplants at a hospital on the Qinghai-Tibet Plateau. Researchers will collect information on recovery, complications, and costs over time. The goal is to understand how high altitude affect…

This study collects blood or brain tissue from families with two or more members diagnosed with Alzheimer's or dementia. The goal is to build a large DNA bank that researchers can use to find genes linked to the disease. No individual results are returned, but the data may lead t…

This study is creating a program called START-VET to help veterans with mental illness or substance use disorders who have recently left prison. Researchers will work with 20 veterans to develop transition materials and tools. The goal is to improve quality of life and reduce cri…

This study looks at whether a quick ultrasound of the thigh muscle can detect muscle loss (sarcopenia) in people who have finished cancer treatment. Researchers will compare the ultrasound results with a standard whole-body scan (DEXA) in 55 adults aged 18-74 with certain cancers…

This pilot study is testing whether a simple saliva test can help doctors prescribe mental health medications more safely and effectively. 200 adults in Manitoba who are starting or changing psychiatric drugs will provide a DNA sample. The results will be shared with their doctor…

This study looks at whether training psychiatric care teams to talk about sexual health with young patients (ages 15 and up) increases those conversations. Researchers will survey 770 teens hospitalized for psychiatric disorders about their sexual health and any side effects from…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…