Hereditary dementia

This study tests a vaccine called AADvac1, which targets tau tangles in the brain, a hallmark of Alzheimer's. It will be given alone or with another drug (donanemab) to 450 adults aged 50-80 with very early Alzheimer's. The goal is to see if this approach can reduce tau buildup a…

This study tests whether deep brain stimulation (DBS) can improve thinking and memory in people with early Alzheimer's disease. Two participants will have electrodes implanted in a brain area that produces a key chemical for memory. The goal is to see if daily, one-hour stimulati…

This study tests whether metformin, a widely used diabetes drug, is safe for people with a specific genetic form of ALS (C9orf72). Over 24 weeks, 41 participants will take metformin to see if it reduces toxic proteins linked to the disease. The goal is to determine if metformin c…

This study tests a vaccine called AADvac1 in 146 people with progressive supranuclear palsy (PSP), a rare brain disorder that affects movement and thinking. The vaccine aims to target a protein linked to the disease and slow its progression. Participants will receive injections o…

This Phase 2 trial tests whether the drug LM11A-31 can slow the progression of Progressive Supranuclear Palsy (PSP), a rare brain disorder that affects movement and balance. About 147 people with early-stage PSP will receive either the drug or a placebo twice daily for several mo…

This early-stage study tests the safety of acamprosate, a drug used for alcohol dependence, in 30 adults with ALS who have a specific mutation in the C9orf72 gene. Participants take the pill three times daily for 24 weeks and undergo regular checkups, breathing tests, and spinal …

This Phase 3 study tests whether the drug leriglitazone can help adult men with cerebral adrenoleukodystrophy (cALD), a rare and serious brain disease. The main goal is to see if the drug delays death or the need for permanent breathing support compared to a placebo. About 40 men…

This study tests lecanemab, an antibody that targets amyloid plaques in the brain, in 40 people who carry a gene mutation that causes early-onset Alzheimer's. Participants previously received another anti-amyloid drug and will now receive lecanemab to see if it can fully clear am…

This study tests whether two drugs, E2814 and lecanemab, can slow the progression of Alzheimer's in people who carry a gene mutation that causes the disease. About 197 participants will receive either the drugs or a placebo over 2 to 4 years. Researchers will measure changes in t…

This study tests whether experimental drugs can slow down memory and thinking problems in people who have a gene mutation that causes Alzheimer's disease. About 490 adults aged 18-80 with this genetic risk are taking either a study drug or a placebo. The goal is to see if the dru…

This study tests an experimental drug called ION363 in people with a rare, inherited form of ALS caused by FUS gene mutations. The goal is to see if the drug can slow the disease and help people live longer. About 89 participants will receive the drug via spinal injection. This i…

This study investigates whether intensively lowering systolic blood pressure with FDA-approved medications can reduce the buildup of amyloid and tau proteins in the brain—hallmarks of Alzheimer's disease. The trial enrolls adults aged 60-85 with high blood pressure who are cognit…

This study tests a single-dose gene therapy called LY3884963 in 35 people with frontotemporal dementia caused by GRN gene mutations. The therapy aims to raise levels of a missing protein (progranulin) in the brain. Participants receive the treatment via injection into the fluid a…

This study tests a personalized antisense oligonucleotide drug designed for a single person with ALS caused by a specific TARDBP gene mutation. The drug aims to reduce harmful TDP-43 protein and slow disease progression. The participant's clinical function, survival, and biomarke…

This study tests a personalized medicine called an antisense oligonucleotide, designed specifically for one person with dentatorubral-pallidoluysian atrophy (DRPLA), a rare genetic brain disorder. The treatment aims to reduce seizures and improve quality of life by targeting the …

This study tests a new drug called PMN310 in people with early Alzheimer's disease. The goal is to see if it is safe and if it can reduce signs of the disease in the brain. About 144 participants will receive multiple doses of the drug or a placebo. This is an early-phase trial, …

This study tests an experimental drug called THN391 in 15 people with early Alzheimer's disease who also have small vessel disease in the brain. Participants receive three monthly IV infusions of either THN391 or a placebo. The main goal is to check safety and how the drug behave…

This early-stage trial tests an oral drug called verdiperstat in 64 people with semantic variant primary progressive aphasia (svPPA), a rare dementia that affects language. The study is double-blind and placebo-controlled, meaning some participants get the drug and some get a pla…

This phase 2 trial tests whether allopregnanolone, a natural hormone, can safely help repair the brain in people with early Alzheimer's disease. About 100 volunteers aged 55 to 80 will receive weekly infusions of the drug or a placebo for several months. Researchers will measure …

This early-stage trial tests a single injection of ARO-ATXN2 in 36 adults with spinocerebellar ataxia type 2, a rare genetic disorder that affects movement and coordination. The main goal is to see if the drug is safe and how the body processes it. Participants are randomly assig…

This phase 3 trial tests whether the drug troriluzole can slow the progression of spinocerebellar ataxia, a rare genetic disorder that affects coordination and balance. About 300 adults with different types of SCA are randomly assigned to take either troriluzole or a placebo dail…

This early-stage trial tests whether a single infusion of donated mesenchymal stem cells is safe for children with cerebral adrenoleukodystrophy (cALD), a rare and life-threatening brain disease. The stem cells are given as a temporary bridge to buy time before a more definitive …

This clinical trial is testing whether dimethyl fumarate, a drug already used for multiple sclerosis, can improve balance and walking in adults with adrenomyeloneuropathy (AMN), a rare nerve disease. Forty participants will take either the drug or a placebo daily for 36 months, w…

This study looks at whether the drug troriluzole can slow the progression of spinocerebellar ataxia (SCA), a rare genetic disease that affects movement and balance. Researchers will compare 909 patients who took troriluzole for up to three years with similar patients who did not …

This early-stage trial tests a gene therapy called PBFT02 for frontotemporal dementia (FTD) in people with specific genetic mutations. The therapy delivers a working copy of the GRN gene directly into the brain. The study involves 30 adults and primarily checks for safety and sid…

This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with dentatorubral-pallidoluysian atrophy (DRPLA), a rare genetic disorder that affects movement and brain function. The drug aims to reduce the harmful effects of the mutated AT…

This study tests a custom-made genetic medicine (called an antisense oligonucleotide) designed for one person with dentatorubral-pallidoluysian atrophy (DRPLA), a rare inherited brain disorder. The treatment aims to reduce seizures and improve quality of life. Only one participan…

This phase 2 trial is testing whether a combination of two drugs, dasatinib and quercetin, is safe and feasible for people with early-stage Alzheimer's or mild cognitive impairment. The drugs aim to clear aging 'senescent' cells that may contribute to brain damage. 48 participant…

This phase 2 trial tests whether glycerol phenylbutyrate (GPB) can slow corticobasal syndrome (CBS), a rare and fast-progressing brain disease. 32 adults with CBS will receive either GPB or a placebo for 26 weeks. The main goal is to see if GPB lowers levels of a nerve damage mar…

This study tests whether using focused ultrasound to temporarily open the blood-brain barrier can safely help standard antibody therapy reach the brain in people with mild Alzheimer's or mild cognitive impairment. About 15 participants will receive the combined treatment. The goa…

This study tests an experimental drug called DNL593 in healthy volunteers and people with frontotemporal dementia (FTD), a rare brain disease that causes personality changes and memory loss. The trial aims to check if the drug is safe, how the body processes it, and whether it mi…

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This study tests a single infusion of OTL-200 gene therapy in 6 people with late juvenile metachromatic leukodystrophy (MLD), a rare genetic disease that damages the brain and nerves. The therapy uses the patient's own blood stem cells, modified to produce a missing enzyme. Resea…

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study uses special brain scans (PET imaging) to measure amyloid buildup—a protein linked to Alzheimer's—in healthy older adults, people with mild memory problems, and those with dementia. Participants receive scans every 2-3 years for up to 20 years to see how amyloid change…

This study compares a new ultra-high resolution PET/CT scanner, the NeuroEXPLORER, with standard clinical PET/CT scanners for imaging the head and neck. Researchers aim to see if the new device provides more detailed images to improve diagnosis of conditions like dementia, Parkin…

This study is developing a web-based app that analyzes how you speak and remember things to quickly detect early cognitive problems like dementia or Alzheimer's. Researchers will enroll 500 people (healthy adults over 45 and those already diagnosed with mild cognitive impairment …

This study tests if a drug called dalargin can prevent serious organ problems like kidney injury, lung failure, or heart damage after major abdominal surgery. About 200 adults having high-risk surgery will get either dalargin or a placebo for 3 days. The goal is to see if dalargi…

This study tests whether a safe, painless brain stimulation technique called tDCS can improve verbal learning in people with Alzheimer's disease. Researchers will compare active stimulation to a sham (fake) version in 90 participants with typical or language-based Alzheimer's. Th…

This study tests a drug called neflamapimod in 20 people with a language disorder called nonfluent variant primary progressive aphasia (nfvPPA). The goal is to see if the drug is safe and if it can improve language symptoms. Participants will receive either the drug or a placebo …

This study looks at whether pramipexole, a drug used for restless leg syndrome, can ease leg symptoms in women with X-linked adrenoleukodystrophy (ALD). About 24 women will take the drug or a placebo for two months. The goal is to see if it improves sleep, walking, and quality of…

This study tests whether combining music-based movement cues (patterned sensory enhancement) with mild brain stimulation can improve arm and hand function in people with corticobasal syndrome, a rare brain disorder. Twenty participants will be split into two groups: one receiving…

This study tests a new way to match dementia caregivers with each other for emotional support using a computer algorithm. Researchers want to see if matching based on personal preferences leads to better satisfaction and less stress than random matching. About 355 caregivers of p…

This study looks at whether a ketogenic diet (high-fat, low-carb) is practical and safe for people with early-stage Alzheimer's disease over one year. The diet may provide an alternative energy source for the brain and reduce inflammation. Researchers will track diet adherence, b…

This study tests whether a non-invasive brain stimulation technique called theta-burst stimulation (TBS) can improve cognitive function in people diagnosed with young-onset Alzheimer's disease (before age 65). Seventy participants will receive TBS to a specific brain area, and re…

This study looks at whether a gentle brain stimulation technique (tDCS) combined with a special exercise program can reduce symptoms of spinocerebellar ataxia, a disease that affects coordination and balance. Fifteen adults who can walk (with or without help) will receive either …

This study is testing a device called MemorEM, which is a cap that sends low-level electromagnetic waves to the head. The goal is to get feedback from 1,000 patients with neurological diseases like Alzheimer's or Parkinson's, and their caregivers, on how easy the device is to use…

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This study explores whether a simple music activity—tapping along to rhythms together—can improve social attention and feelings of closeness in people with frontotemporal dementia or Alzheimer's disease, and their caregivers. Eighty patient-caregiver pairs will participate in a c…

This study tests whether a non-invasive brain stimulation technique called transcranial direct current stimulation (tDCS) can improve movement in people with degenerative ataxia, a rare condition that damages the cerebellum and impairs balance and coordination. Sixteen participan…

This study tests two types of speech therapy for people with primary progressive aphasia, a brain disorder that slowly destroys language skills. Sixty participants will work on word retrieval or script practice with a clinician and at home. Researchers will measure changes in com…

This study tests if shining a special near-infrared light on the head and through the nose can improve memory and brain function in older adults at risk for Alzheimer's disease. The treatment, called photobiomodulation, is low-risk and aims to boost brain cell energy. 168 partici…

This study tests whether combining speech therapy with a gentle brain stimulation technique (tDCS) can help people with primary progressive aphasia (PPA) communicate better. Ten participants will receive treatment at home via video calls. The goal is to see if this approach is fe…

This study tests a speech-language telerehabilitation program for people with primary progressive aphasia (PPA), a dementia that slowly destroys language abilities. The program includes online therapy sessions and care partner training. Researchers will enroll 21 participants to …

This study follows 1,500 volunteers with normal memory, mild cognitive impairment, or Alzheimer's over several years. Researchers use brain scans, memory tests, and blood samples to track how the disease progresses. The goal is to find better ways to diagnose and treat Alzheimer'…

This study follows 25 people with spinocerebellar ataxia type 7 (SCA7) for up to 5 years to learn how the disease changes vision, coordination, and thinking. Participants will have yearly eye exams, brain scans, and neurological tests. No treatment is given; the goal is to gather…

This study aims to find biological markers (biosignatures) in people with ALS and FTD to make diagnosis more precise. Researchers will analyze samples like spinal fluid, skin, and tears from 230 participants using advanced techniques. The goal is to create a 'disease fingerprint'…

This study investigates whether people with neurodegenerative diseases—like Alzheimer's, Parkinson's, or ALS—show changes in behavior, social circumstances, or health before and after their diagnosis. Researchers will compare the records of over 61,000 patients with those of matc…

This study follows 850 people aged 40-64 with early-onset cognitive impairment to understand how Alzheimer's disease progresses. Participants undergo cognitive tests, brain scans, and genetic analysis, but no experimental treatment is given. The goal is to gather data that could …

This study examines walking patterns in people with Parkinson's disease and similar neurological conditions, as well as healthy volunteers. Researchers aim to identify unique 'gait signatures'—speed-dependent measures of walking—that could help distinguish between different disor…

This study tests a short guide called the 'Jumpstart Guide' to help doctors have better conversations with dementia patients and their families about healthcare goals. Over 1,800 patients and their caregivers are taking part. Researchers will compare whether those whose doctors u…

This study looks at how adults at risk for Alzheimer's disease react after learning their amyloid and tau biomarker test results. Researchers will track changes in distress, stigma, quality of life, and future planning over time. The goal is to understand the psychological and be…

This study tracks a protein called neurofilament light chain in the blood of 342 people who carry genetic mutations linked to frontotemporal dementia (FTD). Participants provide blood samples every three months for three years, often from home. The goal is to see if this biomarke…

This study is observing 217 people with ALS and related conditions like frontotemporal dementia and hereditary spastic paraplegia. Researchers aim to connect each person's genetic makeup with their symptoms and find biological markers in blood and spinal fluid. No new treatments …

This study looks at people with ALS and similar diseases like frontotemporal dementia and hereditary spastic paraplegia. Researchers want to understand how genes affect the disease and find biological markers (biomarkers) to help develop future treatments. About 708 participants,…

This study enrolls people with ALS and related disorders, as well as healthy volunteers, to track biological markers (biomarkers) in urine, blood, and spinal fluid. The goal is to better understand how these markers change over time, which could help design more effective future …

This study tests a new radioactive compound called F 18 T807 that lights up tau tangles in the brain during a PET scan. Researchers want to see if the amount of tau relates to memory and thinking problems in people with a rare, inherited form of Alzheimer's disease. About 130 adu…

This study uses a radioactive tracer called [18F]MK-6240 to take detailed pictures of tau protein clumps in the brain, a hallmark of Alzheimer's disease. Researchers will scan 200 people from families with a rare genetic form of Alzheimer's to see how tau buildup changes over tim…

This study was designed to see if a smartphone app called iBlink can measure how well the brain learns new movements in people with spinocerebellar ataxia, a rare and serious movement disorder. Researchers planned to compare aerobic exercise with balance training to see which bet…

This study uses advanced MRI scans and genetic tests to track how neurodegenerative diseases like frontotemporal dementia and ALS spread across the brain's network. Researchers will follow 645 participants, including patients, family members, and healthy controls, for up to 2 yea…

This study looks at how things like social support, income, and health habits are linked to mental health and brain diseases such as depression, Alzheimer's, and Parkinson's. Researchers will collect surveys, blood samples, and optional brain scans from over 1,300 adults in Europ…

This study is creating a simple test to check if people with Alzheimer's or similar conditions can understand and agree to medical decisions. Researchers will work with 100-150 participants to compare the new test with existing methods and look at brain scans and blood markers. T…

This study is building an online platform called DBS MatchMaker to connect doctors around the world who treat rare movement disorders with deep brain stimulation (DBS). The goal is to help doctors share knowledge and find the best ways to treat patients. Up to 500 people of all a…

This study aims to create more sensitive cognitive tests for Huntington's disease by combining brain imaging (PET and MRI) with blood markers. Researchers will study 90 participants—healthy controls, pre-symptomatic gene carriers, and early-stage patients—to understand how brain …

This study from Mayo Clinic is creating a large collection of blood, urine, stool, spinal fluid, and skin samples from 1000 people with ataxia and related genetic diseases, plus their healthy family members. The goal is to better understand the genetic and physical features of th…

This study uses a portable 48-hour EEG monitor to check for hidden seizures in people with early-onset Alzheimer's disease (ages 40-64). Researchers want to learn how common seizures and epilepsy are in this group. The study involves 20 participants and is purely observational, m…

This long-term study uses yearly brain scans, genetic tests, and thinking/memory assessments to track changes in nearly 1,800 people with various dementias (like Alzheimer's and vascular dementia) and over 140 healthy older adults. The goal is to better diagnose, monitor, and eve…

This study is analyzing blood samples from 1,799 people with Alzheimer's, dementia, depression, bipolar disorder, schizophrenia, or Parkinson's disease. Researchers want to see if certain substances in the blood can help doctors diagnose and manage these conditions more accuratel…

This study is testing whether wearable sensors can reliably monitor movement problems in people with progressive supranuclear palsy (PSP) and related frontotemporal disorders. About 60 participants will wear pendant-like devices for 12 months to track their activity. The goal is …

This study follows 432 adults who were in the ICU after a traumatic injury or burn. Researchers want to see if and why patients develop long-term problems with memory, thinking, and daily function. By tracking cognitive skills and inflammation over time, they hope to uncover link…

This study looks at brain tissue and lab-grown nerve cells from people with schizophrenia, depression, bipolar disorder, frontotemporal dementia, and Alzheimer's. Researchers want to find out how problems with synapses—the connections between brain cells—differ in these condition…

This study aims to learn more about diseases that affect the brain, such as Parkinson's disease and different types of dementia. Researchers will follow 500 adults with symptoms of these conditions over time, using brain scans and genetic tests to see how the diseases progress. T…

This observational study looks at how brain inflammation contributes to frontotemporal lobar degeneration (FTLD), a group of disorders that cause dementia. Researchers will use advanced brain scans, blood tests, and spinal fluid analysis in 110 participants to find biomarkers tha…