Inherited neurodegenerative disorder

This early-phase study tested the drug baricitinib in 17 people with Alzheimer's disease, ALS, or mild cognitive problems. The goal was to see if the drug reaches the brain and lowers inflammation linked to these diseases. Participants took baricitinib pills for 24 weeks, and res…

This study is testing the drug risdiplam in newborn babies with spinal muscular atrophy (SMA), a serious muscle-weakening disease. The goal is to see how the drug moves through the body and if it is safe for infants under 20 days old. Ten babies will take part, and researchers wi…

This study tested a drug called PTC518 in 159 adults with Huntington's disease to see if it is safe and can lower a harmful protein in the blood. Participants received different doses of the drug or a placebo for up to 12 months. The goal is to slow disease progression by targeti…

This completed Phase 2 trial tested an oral drug called LY3372689 in 327 people with early symptomatic Alzheimer's disease. The goal was to see if the drug could safely slow down declines in thinking and daily living skills compared to a placebo. The study focused on participants…

This study tests an experimental drug called AT-007 (Govorestat) in 56 adults with SORD deficiency, a rare genetic condition that causes nerve damage and muscle weakness. The drug aims to lower high levels of sorbitol, a sugar that builds up and harms nerves. Researchers will mea…

This study tested whether a special oil called triheptanoin can slow brain damage in people with early Huntington's disease. 100 participants took either the oil or a placebo for 6 months, followed by 6 months where everyone got the oil. The main goal was to see if it reduced bra…

This early-phase study tested a new drug called ER2001 in 8 adults with early Huntington's disease. The main goal was to check if the drug is safe and tolerable when given repeatedly through an IV. Researchers also looked at how the drug moves through the body and if it shows any…

This study looked at the long-term safety and effectiveness of the drug leuprorelin in 1,905 people with spinal and bulbar muscular atrophy (SBMA), a rare muscle-weakening disease. Participants were followed for up to 8 years in routine medical care. The main goals were to track …

This study tested a malaria drug called artesunate in 20 people with Friedreich ataxia, a rare genetic disorder that affects movement and coordination. The goal was to find a safe dose that could help control iron levels in cells, which may slow the disease. Researchers started w…

This study tested an oral drug called AZ-3102 in 13 people with GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) or Niemann-Pick type C disease. The main goal was to check safety and how the drug moves through the body over 12 weeks. It was a randomized, double-blind, placebo-c…

This study tested whether a nerve block called stellate ganglion block can improve swallowing in people with bulbar palsy after an ischemic stroke. 124 participants were randomly assigned to receive either standard rehabilitation alone or standard rehabilitation plus the nerve bl…

This study tested an oral drug called ADX-629 in 8 people with Sjögren-Larsson syndrome, a rare inherited disorder that causes harmful fatty substances to build up in the skin, brain, and eyes. The main goals were to see if the drug is safe and can reduce these fatty aldehydes. P…

This completed Phase 2b/3 trial tested the drug AMX0035 in 139 people with progressive supranuclear palsy (PSP), a rare brain disease that causes problems with balance, movement, and thinking. The study compared the drug to a placebo to see if it could slow the disease. The resul…

This Phase 3 trial tested a treatment called EryDex for people with ataxia telangiectasia (A-T), a rare genetic disease that affects movement and coordination. EryDex is a steroid (dexamethasone) packaged inside the patient's own red blood cells and given as an IV infusion every …

This study followed 24 people with metachromatic leukodystrophy (MLD), a rare and serious brain disease, who were already receiving an experimental drug called HGT-1110. The main goal was to check for side effects and immune reactions over a long period. Researchers wanted to see…

This study tested the drug D-cycloserine in a single patient with a rare genetic form of hereditary spastic paraplegia. The goal was to see if the drug is safe and can slow the disease by lowering certain fats (sphingolipids) in the body. The patient also took pyridoxine to help …

This Phase 3 trial tested a gene therapy called GS010 in 98 people with Leber hereditary optic neuropathy (LHON), a genetic condition that leads to rapid vision loss. Participants received injections of the therapy or a placebo into both eyes. The study measured changes in vision…

This study tested an experimental drug called vatiquinone in 146 people with Friedreich ataxia, a rare genetic disease that affects movement and coordination. Participants took either the drug or a placebo for 72 weeks to see if it slowed worsening of symptoms, measured by a stan…

This study tested a drug called TPN-101 in 42 people with progressive supranuclear palsy (PSP), a rare brain disease that affects movement and thinking. The main goal was to see if the drug is safe and tolerable over 48 weeks. Researchers also looked at how the drug moves in the …

This phase 2 trial tested darolutamide, a drug that blocks male hormones, in 57 people with a rare type of salivary gland cancer that has male hormone receptors. Some patients received darolutamide alone, while others also got goserelin to lower hormone levels. The goal was to se…

This trial tested a custom-made drug called nL-TARD-001 in one person with ALS caused by a specific genetic mutation in TARDBP. The drug is an antisense oligonucleotide designed to target the faulty gene. The study measured changes in muscle function, breathing, and thinking over…

This study tested a drug called TPN-101 in 42 people with ALS or frontotemporal dementia caused by a specific gene change (C9orf72). The main goal was to check if the drug is safe and tolerable over 48 weeks. Researchers also looked at how the drug moves in the body and whether i…

This study tested a drug called alemtuzumab (Campath) as a first treatment for children with hemophagocytic lymphohistiocytosis (HLH), a rare and life-threatening immune disorder. The goal was to see if it could help children survive until they could receive a stem cell transplan…

This study tested an experimental drug called METAZYM (a lab-made enzyme) in one child with late infantile metachromatic leukodystrophy (MLD) who had already received a stem cell transplant. The goal was to see if the enzyme could improve nerve function and reduce harmful buildup…

This study tested a gene therapy called OTL-200 in 10 children with early-onset metachromatic leukodystrophy (MLD), a rare and severe brain disease. The treatment uses the child's own blood stem cells, modified to produce a missing enzyme, and aims to slow or stop disease progres…

This study tested whether narrow dental implants work as well as standard-sized implants placed with bone regeneration in people with narrow jawbone in the back of the mouth. Thirty adults with a ridge width between 5 and 6.5 mm received either a 3.0 mm narrow implant or a 4.0 mm…

This study followed 62 people with Leber Hereditary Optic Neuropathy (LHON), a rare inherited eye disease that causes vision loss, for up to 5 years after they received a single gene therapy treatment called GS010. The goal was to see if the treatment remained safe and if any vis…

This study tested an experimental drug called NIDO-361 in 54 men with spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease. The goal was to see if the drug is safe and can help maintain or improve muscle mass. Participants received either the drug or a place…

This phase 3 trial tested a single injection of GS010 gene therapy in 39 people with Leber Hereditary Optic Neuropathy (LHON) who had vision loss for 6 months or less. The treatment aims to improve vision by delivering a working copy of the ND4 gene to the eye. Results measured c…

This study tested a one-time gene therapy injection, GS010, in 37 adults with Leber Hereditary Optic Neuropathy (LHON), a genetic condition that causes rapid vision loss. Participants had vision loss for 6 to 12 months before treatment. The goal was to see if the therapy could im…

This study tested a gene therapy for children with early-onset metachromatic leukodystrophy (MLD), a rare and severe brain disease. Five children aged 6 months to 5 years received injections of a harmless virus carrying a working copy of the ARSA gene directly into their brains. …

This study tested a gene therapy called GS010 in 19 adults with Leber Hereditary Optic Neuropathy (LHON), a rare inherited eye disease that causes rapid vision loss. The main goal was to see if the treatment is safe and tolerable at different doses. The therapy uses a harmless vi…

This early-stage trial tested a single dose of the drug PGN-EDODM1 in 24 adults with myotonic dystrophy type 1, a genetic muscle disorder. The main goal was to check safety and how the body handles the drug. The study is complete, but results are not yet available.

This study tested a drug called GV1001 in 78 people with Progressive Supranuclear Palsy (PSP), a rare brain disease that affects movement and thinking. Participants received daily injections of either a low dose, a higher dose, or a placebo for 6 months. The goal was to see if th…

This phase 3 trial tested a one-time gene therapy called Zolgensma in 22 infants under 6 months old with spinal muscular atrophy (SMA) type 1, a severe muscle-weakening disease. The treatment delivers a working copy of the missing SMN gene via an IV infusion. The main goals were …

This study tested a one-time gene replacement therapy in infants under 6 months old with spinal muscular atrophy (SMA) type 1, a severe muscle-weakening disease. The main goal was to see if treated babies could sit without support for at least 10 seconds by 18 months of age. The …

This study tested a one-time gene replacement therapy in 33 infants under 6 months old with spinal muscular atrophy (SMA) type 1, a severe muscle-weakening disease. The treatment aims to replace the missing SMN1 gene to improve muscle function. Key results showed that many babies…

This study tested a single dose of Zolgensma gene therapy in 30 infants diagnosed with spinal muscular atrophy (SMA) before symptoms appeared. The goal was to see if the treatment helps them reach motor milestones like sitting or standing alone. The therapy delivers a working cop…

This study tested a drug called RTA 408 (omaveloxolone) in 172 people with Friedreich's ataxia, a rare genetic disease that affects movement and coordination. The goal was to see if the drug is safe and can improve exercise ability and daily function. Participants took the drug o…

This Phase 3 trial tested apitegromab, a drug that blocks a muscle-limiting protein, in 188 nonambulatory children and young adults with later-onset spinal muscular atrophy (SMA types 2 and 3). All participants were already taking standard SMA therapies (nusinersen or risdiplam).…

This study tested a one-time gene therapy called OAV101 (Zolgensma) in 27 children aged 2 to 18 with spinal muscular atrophy (SMA) who had previously stopped taking other SMA medications (Spinraza or Evrysdi). The goal was to see if the treatment is safe and can help maintain or …

This study tested a one-time gene therapy called OAV101 in 126 children aged 2 to 18 with type 2 spinal muscular atrophy (SMA) who had never received other SMA treatments. The therapy was given as a spinal injection and compared to a sham procedure. The goal was to see if it coul…

This phase 2 trial tested baricitinib (Olumiant), a drug used for rheumatoid arthritis, in 54 people with Aicardi Goutières Syndrome (AGS), a rare genetic disorder that causes brain inflammation and developmental problems. The goal was to see if the drug could stabilize or improv…

This early-stage trial tested a drug called NIO752 in 59 people with progressive supranuclear palsy (PSP), a rare brain disorder that affects movement and balance. The drug was given as a spinal injection to see if it is safe and how the body processes it. The main goal was to ch…

This study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…

This early phase 1 trial tested an experimental drug called ER2001 in 10 adults with early Huntington's disease. The drug was given by IV at increasing doses over 14 weeks to check safety and how the body processes it. The study also looked for early signs that the drug might aff…

This study tested a gene therapy for children with metachromatic leukodystrophy (MLD), a rare, inherited brain disease that causes severe disability and early death. The treatment uses the child's own blood stem cells, which are modified in a lab to carry a working copy of the mi…

This study tested a drug called AL001 in 33 people who carry a gene mutation that causes frontotemporal dementia, a brain disease that affects personality and language. The goal was to see if the drug is safe and how it affects certain proteins in the body. The trial was open-lab…

This study looked at the long-term safety of a daily injection called GV1001 in people with progressive supranuclear palsy (PSP), a rare brain disease that affects movement and balance. It included 67 patients who had already completed a previous GV1001 study. Researchers monitor…

This study looked at how people with PKAN, a rare genetic brain disorder, respond to a special vitamin metabolite. Researchers wanted to see if it is safe and if it changes any signs of the disease. 77 people aged 3 months to 89 years took part.

This phase 3 study tested the drug enzalutamide in 395 Asian men with metastatic prostate cancer that had stopped responding to standard hormone therapy. Participants had not yet received chemotherapy. The study compared enzalutamide to a placebo to see if it could delay rises in…

This study tested a one-time gene therapy for children with a rare, severe brain disease called variant late infantile Batten disease. The treatment delivers a working CLN6 gene into the spinal fluid to help slow the loss of motor and language skills. The trial included 13 childr…

This early-stage trial tested a gene therapy called LX1001 in 15 people with Alzheimer's who have two copies of the APOE4 gene, a high-risk form. The therapy delivers a healthy APOE2 gene to try to change the course of the disease. The main goal was to check safety and side effec…

This study tested a drug called nusinersen (Spinraza) in 25 infants who have a genetic diagnosis of spinal muscular atrophy (SMA) but no symptoms yet. The drug is given through a spinal injection to help delay or prevent the need for breathing support or early death. The goal was…

This study tested the drug nusinersen (Spinraza) in 46 children under 3 years old with spinal muscular atrophy (SMA) who had previously received gene therapy but still had health challenges. The goal was to see if adding nusinersen could improve their muscle and movement abilitie…

This study tested a drug called troriluzole in 141 adults with spinocerebellar ataxia, a rare disease that affects balance and coordination. Participants took either the drug or a placebo daily for 8 weeks. The main goal was to see if troriluzole could improve symptoms like walki…

This study is a follow-up to an earlier trial, testing the long-term safety and effects of a drug called AOC 1001 in adults with myotonic dystrophy type 1 (DM1), a genetic muscle disease. 37 participants who completed the first study received multiple doses of AOC 1001 by IV infu…

This study tested the safety and drug levels of risdiplam, a daily oral medication, in 174 adults and children with spinal muscular atrophy (SMA). Participants had previously received other SMA treatments. The main goals were to check for side effects and measure how the drug mov…

This study tested whether metformin, a widely used diabetes drug, can slow the loss of thinking skills in people with Huntington's disease. Sixty adults took either metformin or a placebo for one year. Researchers measured changes in memory, attention, and other cognitive functio…

This phase 2 trial tested a stem cell therapy called Cellavita HD in 49 people with Huntington's disease. Participants received either a low dose, high dose, or placebo through IV infusions over several months. The study measured changes in motor skills to see if the treatment co…

This early-stage trial tested the safety and tolerability of an experimental drug called SAGE-718 in 6 healthy adults and a small group of people with Huntington's disease. Researchers looked for side effects and measured how the drug moves through the body. The goal was to see i…

This study tested the drug miglustat in 6 adults aged 17 and older with CLN3 Batten disease, a rare genetic disorder that causes nerve damage. The goal was to see if the drug is safe and to find the best dose over 2 years. Researchers tracked side effects and how the drug moved t…

This small pilot study tested whether drugs normally used for HIV could help children with Aicardi-Goutières syndrome (AGS), a rare genetic disorder that causes severe brain inflammation. The trial gave 11 children a combination of three reverse transcriptase inhibitors to see if…

This phase 2 trial tested three drugs—Xenbilox, Tahor, and resveratrol—in 12 adults with SPG5, a rare genetic condition causing progressive leg weakness. The goal was to lower levels of a toxic cholesterol byproduct called 27-hydroxycholesterol. Each drug was taken for 2 months, …

This study tested an artificial intelligence platform that screens for cognitive dysfunction by analyzing eye movements. Over 1,500 participants, including people with various dementias and healthy individuals, took part. The AI aims to detect cognitive impairment and provide ref…

This study tested a new blood test that uses a microfluidic chip to detect Alzheimer's disease. Researchers collected blood and urine samples from 150 people, including those with Alzheimer's, other brain diseases, and healthy volunteers. The goal was to see if the test could acc…

This study is working on a blood test to help diagnose Alzheimer's disease. Researchers are measuring two specific markers in the blood of 200 people—some with Alzheimer's and some healthy—to see if these markers can reliably tell the difference. The goal is to create a simple, n…

This completed study looked at how well a camera test called FEES (flexible endoscopic evaluation of swallowing) can detect and track swallowing problems in people with spinal muscular atrophy (SMA). Researchers studied 79 SMA patients of different types and ages, using several s…

This study looked at a blood test called Beta-D-glucan (BDG) to see how well it detects invasive fungal infections in people with weak immune systems. Researchers tested 280 patients and checked if two positive results within 15 days confirmed an infection. The goal is to help do…

This study tested whether ultrasound of the nerves can help diagnose CANVAS, a rare genetic disorder that causes balance problems, nerve damage, and dizziness. Researchers measured nerve size in 35 people with confirmed CANVAS and compared them to healthy individuals. The goal wa…

This study aimed to develop a non-invasive prenatal test using fetal cells from a mother's blood to detect triplet repeat diseases like Huntington's disease, Fragile X syndrome, and certain types of muscular dystrophy and ataxia. Researchers enrolled 60 pregnant women at risk and…

Researchers tested an artificial intelligence program that analyzes retinal images to diagnose several nerve and brain conditions, such as optic neuropathy and brain tumors. The study used data from 693 patients with confirmed diagnoses. The goal is to create a fast triage tool f…

This study tested whether a single infusion of zoledronic acid (Reclast) can prevent fractures in men and women aged 60 and older with Parkinson's disease or related conditions. Over 2,700 participants were randomly assigned to receive either the drug or a placebo, and were follo…

This study tested whether lithium, a drug used for mood disorders, can prevent Alzheimer's dementia in older adults with mild cognitive impairment (MCI). 83 participants took either lithium or a placebo for a period, and researchers measured memory, thinking skills, and brain cha…

This study tested whether group drumming classes could improve quality of life and motor skills in people with Parkinson's or Huntington's disease. Eighteen participants took drum lessons twice a week for 12 weeks. Researchers measured changes in anxiety, depression, hand functio…

This Phase 3 study tested the long-term safety of valbenazine in 154 people with Huntington disease who have chorea (uncontrolled movements). Participants either continued from a previous study or joined new. The goal was to see if valbenazine is safe and helps control chorea ove…

This study tested whether a daily probiotic called Weizmannia coagulans BC99 can improve symptoms of chronic constipation in adults. One hundred participants took either the probiotic or a placebo for a period, and researchers measured changes in stool consistency and gut bacteri…

This study tested a combination of platelet-rich plasma (PRP) from the patient's own blood and hyaluronic acid injected into the jaw joint. Twenty-two adults with painful clicking and limited mouth opening received the treatment. Researchers used a jaw tracking device to measure …

This study looked at how well and how safely deutetrabenazine works for Chinese adults with Huntington's disease who have chorea (uncontrolled movements). Fifty patients took the drug as part of their normal care. The main goal was to see if chorea scores improved, especially in …

This early-stage trial tested a new oral drug called MTR-601 in 89 healthy adults to see if it is safe and how the body processes it. The drug aims to reduce muscle stiffness and spasms, which could help people with conditions like cerebral palsy, multiple sclerosis, or stroke. S…

This study looked at whether taking weekly dance classes for 8 months can help people with Huntington's disease and their caregivers. Researchers measured movement control, emotion, quality of life, and brain changes using tests and MRI scans. The goal was to see if dance trainin…

This study tested an experimental drug called NMD670 in 52 adults with type 3 spinal muscular atrophy who can still walk. The goal was to see if the drug helps them walk farther in 6 minutes and improves muscle strength compared to a placebo. The trial is now complete, and result…

This study tested whether adding acupuncture to standard care can slow down memory and thinking problems in people with mild Alzheimer's disease. Researchers compared real acupuncture to a fake (sham) procedure in 160 participants to see if the effects were real or just a placebo…

This study tested a portable knee training device in 13 children aged 6-12 with spinal muscular atrophy (SMA). The goal was to see if regular exercise with the device could improve leg muscle strength and function. Researchers measured muscle size, strength, and nerve activity ov…

This study tested a ketogenic drink made from medium chain triglycerides (MCTs) in 43 people with Alzheimer's disease or a type of frontotemporal dementia. The goal was to see if it was safe and tolerable, and to measure ketone levels in the blood. It was a small, early-stage tri…

This study tested whether virtual reality (using Xbox Kinect) or biofeedback training could improve motor function and balance in 24 children with neuromuscular diseases like Duchenne muscular dystrophy and spinal muscular atrophy. Participants were split into three groups: VR tr…

This study tested whether repeated sessions of transcranial magnetic stimulation (TMS) could improve language in people with primary progressive aphasia (PPA), a condition that slowly damages language areas of the brain. Ten participants received both real and sham (fake) TMS ove…

This pilot study tested whether a non-invasive treatment called extracorporeal shockwave therapy (ESWT) can safely reduce spasticity—muscle stiffness and spasms—in people with chronic spinal cord injury. Five participants received ESWT or a sham treatment, and researchers measure…

This study tested whether a virtual group therapy program called Cognitive Stimulation Therapy (V-CST) could help slow cognitive decline in people with mild to moderate dementia. 133 participants were randomly assigned to either receive a referral for V-CST or continue with stand…

This small pilot study tested whether a temporary spinal cord stimulator (like a pacemaker for the spine) could help people with spinal muscular atrophy types 3 and 4 move their legs better. Three adults who could stand independently received the implant for up to 29 days. The go…

This study looked at whether taking an NAD+ precursor (a vitamin-like supplement) along with exercise training can improve aerobic capacity (how well the body uses oxygen during exercise) in people with Friedreich's ataxia. The trial included 75 participants aged 10 to 40. Resear…

This study tested whether an Apple Watch paired with a special app and weekly health coaching could help dementia caregivers improve their sleep and mood. Twenty-one caregivers wore the watch to track their activity and sleep, and received personalized feedback and motivational c…

This study tested a special palliative care program for people with late-stage Alzheimer's or related dementias and their family caregivers. The program started during a hospital stay and included caregiver education and support to reduce hospital transfers and improve symptom co…

This pilot study tested the drug elamipretide in 20 people with Friedreich ataxia to see if it could safely improve vision loss. Participants received either a low or high dose, and researchers measured changes in eyesight. The study is complete, but results are not yet available…

This pilot study tested whether combining a mild brain stimulation technique (tDCS) with intensive language therapy can help people with non-fluent aphasia after a stroke. Ten participants received both real and sham stimulation during therapy sessions. The goal was to see if the…

This study tested a video-based program called STELLA-FTD to help family caregivers of people with frontotemporal dementia (FTD). Sixteen caregivers participated in the program, which aimed to reduce their stress and improve their quality of life. The approach used videoconferenc…

This study tested whether using immersive virtual reality or computer-based brain training could improve thinking and memory in people with Parkinson's or Huntington's disease who have mild cognitive problems. Sixty-four participants were randomly assigned to one of three groups:…

This study tested whether a daily supplement called ETAS®, made from asparagus, could improve memory, mood, and reduce inflammation in healthy adults aged 60-80 who had mild memory concerns. 45 participants took either a low or high dose of ETAS® or a placebo for 12 weeks. Resear…

This study tested speech entrainment therapy (SET) in 80 people with non-fluent aphasia after a stroke. Participants practiced speaking along with an audio-visual computer program for 3, 4.5, or 6 weeks, or received no therapy. The goal was to find the best duration for lasting i…

This study tested whether a gentle, non-invasive brain stimulation technique called tDCS, combined with language therapy, could improve speech in 23 people with primary progressive aphasia (PPA). Participants received either real or fake (sham) stimulation daily for 10 days. Rese…

This study tested whether 12 weeks of respiratory strength training could improve breathing and swallowing in a person with Friedreich's ataxia. The participant did breathing exercises against resistance and had tests before and after the training. Because only one person took pa…

This study tested two sleep medications (suvorexant and zolpidem) against a placebo in 40 adults with Progressive Supranuclear Palsy (PSP). The goal was to see if targeting the brain's wake-promoting system could improve sleep quality and daytime well-being. Each person tried all…

This study tested whether a gentle electrical current applied to the brain (tDCS) can improve language when combined with speech therapy in people with primary progressive aphasia (PPA), a condition that slowly damages language abilities. 76 adults with two types of PPA received …

This study tested an online tool called WeCareAdvisor that helps caregivers of people with dementia manage behavioral and psychological symptoms. 262 caregivers used the tool for 6 months, with some receiving extra prompts. The goal was to see if it reduces caregiver distress and…

This study tested a new way of caring for people with Parkinson's disease. The goal was to help 214 participants achieve their personal goals and improve their quality of life. The approach involved proactive, integrated care and patient empowerment, compared to standard care.

This study tested prefabricated carbon fiber ankle-foot orthoses (AFOs) in 65 children and teenagers with conditions like cerebral palsy, spina bifida, or spinal cord injuries that affect walking. Researchers measured stride length, walking speed, and user satisfaction by compari…

This study tested whether listening to personalized music can improve thinking and daily function in people with advanced-stage Alzheimer's disease. Researchers enrolled 54 older adults and had them listen to either their favorite music or a classical piece. The goal was to see i…

This study tested an experimental drug called SAGE-718 to see if it could improve cognitive function (like attention and processing speed) in people with Huntington's disease. 189 participants took either the drug or a placebo daily for a period of time. The main goal was to meas…

This study tested whether SAGE-718, an experimental oral drug, can improve cognitive function in people with early Huntington's disease. 69 participants took either the drug or a placebo for 28 days. The main goal was to measure changes in thinking skills using a battery of cogni…

This study looked at whether emergency department pharmacists can safely reduce the use of certain brain-active medications in people with dementia or mild cognitive impairment. Researchers worked with 300 participants to see if pharmacists could communicate medication changes to…

This study investigates how different language treatments affect both language skills and brain function in people with aphasia, a condition that impairs the ability to speak, understand, read, or write after a stroke. Participants will receive therapy targeting naming, spelling,…

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

This study tests whether wearable sensors and digital home tasks can track changes in movement, speech, and falls in people with ALS. About 20 participants will wear neck and wrist sensors and complete speech and handwriting tests over 48 weeks. The goal is to see if these digita…

This study explores whether digital tools on a tablet can measure changes in speech and handwriting in people with motor neuron diseases like ALS. Participants complete a single session of speaking and tracing tasks. Researchers compare results between patients and healthy contro…

This study followed 50 adults with a C9ORF72 gene mutation that can cause ALS or frontotemporal dementia. Over three years, researchers measured changes in strength, thinking, memory, and behavior using brain scans, spinal fluid tests, and other assessments. The goal was to under…

This completed study looked for specific gene patterns in the blood that could help diagnose Parkinson's disease and distinguish it from similar conditions. Researchers analyzed blood samples and brain scans from 219 people with Parkinson's or related disorders. The goal is to de…

This study looks at whether a French version of the SMAFRS questionnaire gives reliable results when used twice in adults with spinal muscular atrophy (SMA). About 60 participants will fill out the questionnaire during a routine visit and again 15 days later. No treatment is give…

This completed study looked at how people learn and remember associations, like names or where you met someone. Researchers compared healthy young and older adults with patients who have memory problems from Alzheimer's or semantic dementia. They used memory tests and brain scans…

This study looked at how the brain uses energy in people with early Huntington disease. Ten adults had an MRI scan to measure brain energy levels while resting and watching flashing lights. The goal was to understand brain metabolism, not to test a new treatment.

This study tested whether a brain-computer interface (BCI) device is ready for commercial use to help people with minimal movement communicate. Researchers worked with 8 device users, plus speech therapists and support staff, to evaluate how well the device worked at home. The go…

This study looked at whether opioid use disorder and non-fatal overdoses cause a harmful protein called tau to build up in the brain. Researchers used special PET/CT scans on 12 adults, including those with opioid use disorder and healthy volunteers. The goal was to understand lo…

This study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …

This pilot study tested whether wearable sensors can accurately measure apathy in people with frontotemporal dementia. Researchers monitored 14 participants' movements and behaviors in real-life situations. The goal was to see if technology could provide a more objective way to a…

This study looked at 120 people with Friedreich's ataxia, a rare genetic disease that causes progressive movement problems. Researchers examined tiny interruptions in the DNA expansion that causes the disease to see if they influence when symptoms start and how severe they become…

This study collected blood samples from over 2,200 people with Alzheimer's or other dementias, plus healthy volunteers, to search for genes linked to these diseases. Researchers aimed to identify new genetic causes and better understand how genes affect disease risk and progressi…

This study aimed to create a better way to measure apathy—a lack of motivation and goal-directed behavior—in people with brain diseases like frontotemporal dementia and depression. Researchers used video recordings and body sensors to track behaviors in a real-life setting. 66 he…

This study tested whether a telehealth system could help people with motor neurone disease (MND) receive specialist care from home, avoiding long trips to the clinic. It involved 40 patients and their caregivers, with half using the system for up to 18 months. The goal was to see…

This study used eye-tracking to see how people with Alzheimer's, Parkinson's, or frontotemporal dementia look at faces when trying to recognize emotions. Researchers compared their eye movements to healthy adults. The goal was to understand if different visual strategies explain …

This study looked at brain structure and function in children, teens, and young adults (ages 6-30) who have a parent or grandparent with Huntington's disease. Researchers used MRI scans and cognitive tests to compare those who carry the gene mutation with those who do not. The go…

This completed study at Rutgers University looked at how the brain and body communicate in 30 people with conditions like autism, ADHD, Alzheimer's, and Parkinson's. Participants performed natural movements like walking and pointing while their brain, heart, and motion signals we…

This completed study looked at how muscle oxygen levels change during exercise in people with various neuromuscular diseases compared to healthy volunteers. Seventeen participants did a knee-extension exercise while a device measured muscle oxygen. The goal was to understand diff…

This study looked at families with at least two members who developed Alzheimer's before age 65. Researchers wanted to find new genes that cause the disease, beyond the three already known. They collected medical and genetic information from 150 people across 23 centers in France…

This study followed 67 children with Canavan disease, a rare genetic brain disorder, to learn how the condition naturally changes over time. Researchers reviewed medical records and conducted checkups to track symptoms, milestones, and disease progression. The goal was to better …

This completed study involved over 2,200 people diagnosed with or suspected of having frontotemporal dementia (FTD). Researchers collected blood samples to look for genetic changes linked to the disease. The goal was to find out how common these genetic causes are in people with …

This study looked at how people with Alzheimer's disease or a type of frontotemporal dementia remember personal events from their past. Researchers tested 39 participants using a detailed scale to see if memories were specific (like a single event in time and place) or more gener…

This study followed 44 adults with a confirmed VCP gene mutation to learn how their disease (IBMPFD) naturally progresses over one year. Participants completed walking tests, strength assessments, and surveys about daily function and quality of life. The goal was to gather data t…

This study tested whether home automation and remote monitoring can help elderly people (65+) with multiple chronic conditions live safely at home. Over 500 participants had their homes equipped with sensors that tracked health signs and sent alerts to doctors. The main goal was …

This pilot study explored whether people with Friedreich's ataxia (FA) have problems making certain hormones, like cortisol and testosterone. Researchers measured hormone levels in blood samples from 11 FA patients and 15 healthy volunteers. The goal was to better understand how …

This study examined 186 people with Alzheimer's, Lewy body, frontotemporal, or corticobasal dementia, plus healthy controls, to see if subtle physical signs (like coordination or reflexes) differ between dementia types. Participants had simple exams and cognitive tests. The goal …

This study analyzed medical records of 213 children with spinal muscular atrophy (SMA) in the Czech and Slovak Republics. Researchers looked at what treatments were used and how the children's motor skills, breathing, and feeding changed over time. The goal was to understand real…

This completed observational study enrolled 1,141 participants with mild cognitive impairment or Alzheimer's disease. Researchers tracked changes in memory tests, brain scans, and other biomarkers over time. The goal was to improve how future clinical trials measure the disease, …

This study looked at whether bowel cleansing before colorectal surgery is linked to memory or thinking problems after the operation. Researchers measured certain brain-related proteins in the blood and gave thinking tests to 84 patients before and after surgery. The goal was to u…

This study looked at 44 people with a rare inherited eye condition called Leber Hereditary Optic Neuropathy (LHON) that causes vision loss. Researchers reviewed medical records and asked participants about their vision, health, and quality of life. The goal was to better understa…

This study followed 10 people with late onset Tay-Sachs disease to see how their symptoms and body chemistry changed over six months. Researchers measured balance, coordination, and brain chemicals. The goal was to gather information that will help design better clinical trials f…

This study aimed to translate and validate an Italian version of a tool that helps speech therapists assess swallowing difficulties (dysphagia) in people with neurodegenerative diseases like Parkinson's or ALS. Researchers tested the tool on 101 adults with such conditions to ens…

This study looked at 77 people with Alzheimer's or frontotemporal dementia to understand why some lose awareness of their condition (anosognosia). Researchers used EEG and brain scans to measure how the brain responds to mistakes and emotional signals. The goal is to find brain m…

This study looked at 67 adults with spinal muscular atrophy (SMA) types 2 and 3 to see if special electrical tests (MUNE and CMAP) can track nerve loss over time. The goal was to find better ways to measure how the disease changes, not to test a treatment. Participants had geneti…

This study looked at 18 adults with spinal muscular atrophy (SMA) who had taken the oral medication risdiplam for at least one year. Researchers measured how well nerves and muscles communicate by using electrical stimulation tests. The goal was to see if risdiplam improves these…

This study looked at how a genetic test that checks 25 genes linked to hereditary cancers is used in clinics. Over 1,500 people with a personal or family history of cancer took part. Researchers collected blood samples and had participants fill out questionnaires over five years …

This study looked at whether using a Spiritual Needs Questionnaire helps identify and address the spiritual needs of patients in palliative care. About 100 patients with cancer, heart failure, COPD, or ALS took part. The goal was to see if this approach is practical and beneficia…

This study collected blood and DNA samples from 26 people with early-onset Alzheimer's disease and their close family members. Researchers analyzed the samples to find genetic changes and biomarkers that could help doctors diagnose, treat, and monitor the disease in the future. T…

This study analyzed health records of nearly 5,000 people with spinal muscular atrophy (SMA) to see how well three approved treatments work in everyday medical practice. Researchers looked at complications, medical equipment use, and hospital visits before and after starting each…

This completed study looked at how different types of brain damage—from strokes, tumors, infections, or degenerative diseases—affect thinking and memory. Researchers used brain scans (MRI) and cognitive tests in 346 patients and healthy volunteers to map which brain areas are res…

This study analyzed insurance claims from over 4,000 people with spinal muscular atrophy to see how three approved treatments (Zolgensma, Spinraza, and Evrysdi) are actually used in daily practice and what they cost over time. Researchers looked at dosing patterns, yearly drug co…

This study looked at the gut microbiome (the bacteria living in the digestive tract) of 44 people with mild cognitive impairment, early Alzheimer's, or healthy memory. Researchers wanted to see if lifestyle changes could alter the gut microbiome and whether those changes might be…

This pilot study tested a wearable robotic exoskeleton called EksoNR in 5 people with stroke, spinal cord injury, cerebellar ataxia, or spastic paraplegia. The goal was to see if using the device for gait training in an outpatient setting is safe, tolerable, and feasible. Researc…

This study looked at 10 adults with Friedreich's ataxia to find a way to measure frataxin mRNA in blood and spinal fluid. The goal was to create a tool that can tell if treatments are working to increase frataxin levels in the brain. Researchers used tiny particles called exosome…

This study interviewed 26 adults who either have behavioral variant frontotemporal dementia (bvFTD) or carry a gene that puts them at risk. The goal was to learn how the condition affects daily life, emotions, and coping. No treatment or medication was tested—just listening and g…

This completed study tested a new radioactive tracer called [18F]-SynVesT-1 to measure brain synapse density in 134 people with Alzheimer's disease, frontotemporal degeneration, dementia with Lewy bodies, or late-life psychiatric disorders. Researchers compared this new scan to t…

This study looked at tiny molecules in the blood called miRNAs to see if they could help doctors tell apart two similar conditions in boys: undescended testicles (which need surgery) and retractile testicles (which usually get better on their own). Researchers took blood samples …

This study looked at whether giving expectant fathers online training about basic newborn care helps them feel more capable and makes their pregnant partners feel more supported. Researchers enrolled 70 couples where the father was over 18, the pregnancy was in the third trimeste…

This study looked back at 80 children with spinal muscular atrophy (SMA) types II and III to see how using braces (orthoses) helped them sit, stand, and walk. Researchers recorded when and how often children achieved these milestones and what types of braces they used. The goal w…

This study followed 29 people with Parkinson's disease, along with healthy volunteers and people with a similar condition, to better understand speech and movement issues that don't respond to standard Parkinson's medication. Researchers used brain scans, breathing tests, and wal…

This study looked at whether caffeine intake is linked to how Huntington's disease progresses in people who have the gene but not yet symptoms. Researchers followed 77 participants, measuring brain volume changes and thinking skills over time. The goal was to see if caffeine migh…

This completed survey study asked 131 people with or at risk for Huntington disease about their feelings, attitudes, and beliefs toward clinical research. The goal is to help researchers design better studies that are more aware of participants' needs. No treatment or drug was te…

This study surveyed 219 family caregivers of people with dementia to explore how swallowing problems (dysphagia) affect their burden and needs. Caregivers completed a one-time online questionnaire about their experiences, stress, and knowledge. The goal is to better understand an…

This study looked at cells from 21 people with BPAN, a rare brain disease caused by a gene mutation. Researchers wanted to see if the cells have trouble handling stress, which might explain why brain cells die. No treatment was given; the goal was simply to learn more about the d…

This study looked at how brain energy changes in people with Huntington disease. Researchers used a special MRI technique to measure energy-related chemicals in the brain. The goal was to understand the disease better, not to test a treatment. About 50 adults with early-stage Hun…

This study looked at 10 people with rare genetic conditions that cause very low cholesterol and trouble absorbing vitamins. Researchers measured a protective pigment in the eye called macular pigment, which may be low in these patients and could explain why some still develop vis…

This completed study looked at why people with spinal muscular atrophy (SMA) often feel very tired and have trouble exercising. Researchers tested 34 ambulatory SMA patients who were already on standard treatments (risdiplam or nusinersen) for at least six months. Participants di…

This completed study looked for genetic and environmental factors that increase the risk of developing Parkinson's disease. Researchers compared DNA and lifestyle data from over 2,200 people, including Parkinson's patients, people with related brain diseases, and healthy voluntee…

This study used powerful MRI scans to track how a rare genetic disease called metachromatic leukodystrophy (MLD) damages the brain's white matter in young children. Researchers studied 29 children aged 1 to 6 years with MLD, along with a control group, to better understand how th…

This study tested a special PET scan tracer (F-18 AV 1451) to see how much tau protein builds up in the brains of 81 people with primary progressive aphasia or frontotemporal dementia. Researchers compared these scans to those of healthy controls to find unique patterns for each …

This completed study looked at whether it is practical and acceptable to screen all newborns for spinal muscular atrophy (SMA), a rare genetic disease that causes muscle weakness and can be fatal if not treated early. Over 33,000 babies were screened using a simple blood spot tes…

This completed study looked at 40 people with spinocerebellar ataxia types 2 and 7, a rare brain disease that affects movement. Researchers used MRI scans and lumbar punctures over one year to track changes in the brain and body. The goal was to find reliable markers that could b…

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

This study used special brain scans (PET imaging) to measure amyloid plaques in 60 people with Alzheimer's disease or related conditions like posterior cortical atrophy and logopenic progressive aphasia. The goal was to understand how age influences the amount of amyloid in the b…

This study followed 1200 people with Friedreich's ataxia over time to learn how the disease progresses. Researchers collected health exams and lab results to create a natural history of the condition. The goal was to develop better tools for future clinical trials and improve pat…

This study followed 31 children with GM1 or GM2 gangliosidosis (including Tay-Sachs and Sandhoff disease) to carefully measure how their neurological symptoms, like walking and speech, change over time. The goal was to create a clear picture of disease progression to help design …

This study looked at 70 elderly women with long-term non-specific low back pain to see how their balance relates to disability, fear of falling, and social participation. Researchers measured balance, disability, and community involvement. The goal is to better understand these c…

This study looked at the quality of supportive and palliative care for infants under one year old with spinal muscular atrophy (SMA) type 1, a severe genetic muscle disease. Researchers followed 39 infants and asked families to keep a diary about care. One year after the child's …

This completed study looked at how the prefrontal cortex helps us understand analogies and categories. Researchers used brain scans, EEG, and magnetic stimulation in 130 healthy volunteers and patients with frontotemporal dementia or progressive supranuclear palsy. The goal was t…

This study tested a program called the Care Ecosystem, which provides phone- and web-based support and care coordination for people with dementia and their caregivers. Over 1,200 participants from six health systems took part. The goal was to see if this approach improves quality…