30 Clinical Trials for Various Conditions
The primary purpose of this study is to evaluate the efficacy, safety, and tolerability of 40 mg per day of istradefylline (KW6002) as monotherapy in patients with Parkinson's disease.
The purpose of this research study is to see if the level of serum ferritin differs based on how often oral iron (in the form of ferrous sulfate) is given to children with restless leg syndrome/periodic limb movement disorder.
The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urine, and/or skin/tissue) from male and female patients, of all ages, who have a genetic diagnosis of epilepsy-dyskinesia syndromes. Through prospective review and molecular data analysis, the study aims to identify patterns and correlations between movement and seizure disorders, uncovering genotype-phenotype relationships. The initiative's goals are to enhance understanding of epilepsy-dyskinesia syndromes, inform precision medicine approaches, and foster international collaboration.
The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, monogenic diseases that cause both movement disorders and epilepsy. Addressing challenges in rare disease research -such as small, geographically dispersed patient populations and a lack of standardized protocols- the study employs a multinational retrospective survey endorsed by the International Parkinson and Movement Disorder Society. This survey seeks to collect comprehensive data on clinical features, disease progression, age of onset, genetic variants, and concurrent neurological conditions, standardizing data collection across countries to provide a unified understanding of these conditions. Through retrospective review and molecular data analysis, the study aims to identify patterns and correlations between movement and seizure disorders, uncovering genotype-phenotype relationships. The initiative\'s goals are to enhance understanding of epilepsy-dyskinesia syndromes, inform precision medicine approaches, and foster international collaboration.
Diagnosing Parkinson's disease (PD) depends on the clinical history of the patient and the patient's response to specific treatments such as levodopa. Unfortunately, a definitive diagnosis of PD is still limited to post-mortem evaluation of brain tissues. Furthermore, diagnosis of idiopathic PD is even more challenging because symptoms of PD overlap with symptoms of other conditions such as essential tremor (ET) or Parkinsonian syndromes (PSs) such as progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), or vascular Parkinsonism (VaP). Based on the principle that PD and PSs affect brain areas involved in eye movement control, this trial will utilize a platform that records complex eye movements and use a proprietary algorithm to characterize PSs. Preliminary data demonstrate that by monitoring oculomotor alterations, the process can assign PD-specific oculomotor patterns, which have the potential to serve as a diagnostic tool for PD. This study will evaluate capabilities of the process and its ability to differentiate PD from other PSs with statistical significance. The specific aims of this proposal are: To optimize the detection and analysis algorithms, and then to evaluate the process against neurological diagnoses of PD patients in a clinical study.
The primary objective of the study was to evaluate the efficacy and safety of UX007 in the treatment of disabling paroxysmal movement disorders associated with Glut1 DS.
Background: - In deep brain stimulation (DBS), a device called a neurostimulator is placed in the chest. It is attached to wires in parts of the brain that affect movement. DBS might help people with movement disorders like Parkinson s disease (PD), dystonia, and essential tremor (ET). Objective: - To provide DBS treatment to people with some movement disorders. Eligibility: - Adults 18 years and older with PD, ET, or certain forms of dystonia. Design: * Participants will be screened with medical history and physical exam. They will have blood and urine tests and: * MRI brain scan. The participant will lie on a table that slides in and out of a metal cylinder with a magnetic field. They will be in the scanner about 60 minutes. They will get earplugs for the loud noises. During part of the MRI, a needle will guide a thin plastic tube into an arm vein and a dye will be injected. * Electrocardiogram. Metal disks or sticky pads will be placed on the chest, arms, and legs. They record heart activity. * Chest X-ray. * Tests of memory, attention, concentration, thinking, and movement. * Eligible participants will have DBS surgery. The surgery and hospital care afterward are NOT part of this protocol. * Study doctors will see participants 3 4 weeks after surgery to turn on the neurostimulator. * Participants will return every month for 3 months, then every 3 months during the first year, and every 6 months during the second year. Each time, participants will be examined and answer questions. DBS placement will be evaluated with MRI. The neurostimulator will be programmed. At two visits, participants will have tests of movements, thinking, and memory.
The purpose of this study is to determine if adding hippotherapy treatment will improve balance for children ages 5-17 who have disabilities such as cerebral palsy and down syndrome. We also want to find out if by improving their balance the children increase their participation in age appropriate activities.
Background: * Previous studies have given researchers information on how the brain controls movement, how people learn to make fine, skilled movements, and why some people have movement disorders. However, further research is needed to learn more about the causes of most movement disorders, such as Parkinson's disease. * By using small, specialized studies to evaluate people with movement disorders and compare them with healthy volunteers, researchers hope to learn more about the changes in the brain and possible causes of movement disorders. Objectives: * To better understand how the brain controls movement. * To learn more about movement disorders. * To train movement disorder specialists. Eligibility: * Individuals 18 years of age or older who have had a movement disorder diagnosed by a neurologist and are able to participate based on the specific requirements of the small study. * Healthy volunteers 18 years of age or older. Design: * Participants will have a screening visit with medical history, physical examination, and questionnaire to determine eligibility. Eligible participants will give consent to participate in up to seven additional outpatient visits for study procedures. The number of sessions and the procedures needed for participation depend on specific symptoms. * Participants must avoid drinking alcohol or caffeinated drinks (sodas, coffee, and tea) for at least 2 days (48 hours) before each session. * Potential studies may include magnetic resonance imaging (MRI) scans, functional MRI scans, electroencephalography, magnetoencephalography, transcranial magnetic stimulation, nerve and sensory stimulation, or movement and mental tasks during any of the above procedures. * This study does not provide treatment for movement disorders. Participants will not have to stop any treatment in order to participate.
Background: * Many people can learn to use feedback about brain activity to modify that activity, but is it not known if people with Tourette syndrome can modify their brain activity. * Researchers have evidence that certain areas of the brain are involved in causing tics in people with Tourette syndrome. If people with Tourette syndrome can use feedback about brain activity to modify activity in those parts of the brain, they may be able to modify their brain activity to help control the tics. Objectives: * To determine if people with and without Tourette syndrome can learn to use thought to control brain activity. * To test whether people who have Tourette syndrome can learn to control brain activities, possibly helping to control tics. Eligibility: * Healthy volunteers ages 18 and older who are right-handed and are willing to not consume caffeine or alcohol for 24 hours before the study visit. * Patients with Tourette syndrome who have tics that can be observed and studied. * All participants must be able to undergo magnetic resonance imaging (MRI) scans. Design: * Healthy volunteers (two visits to the NIH Clinical Center over a 2- to 4-week period; visit may last up to 3 hours): * Screening visit, including physical examination and medical history, and a magnetic resonance imaging (MRI) scan if the individual has not had one performed at the National Institutes of Health in the past year. * Study visit: Functional MRI (fMRI) scan to allow researchers to see if volunteers can learn to control their brain activity during a scan. Volunteers will be asked to complete tasks as directed during the fMRI scan. * Patients with Tourette syndrome (three or four outpatient visits over a 4- to 6-week period; each visit may last up to 4 hours): * Screening visit, including physical examination and medical history, and an MRI scan if the individual has not had one performed at the National Institutes of Health in the past year. * Evaluation visit to ask questions about Tourette symptoms and to have patients complete questionnaires about their tics and their mental health. * Study visit: fMRI scan to allow researchers to see if patients can learn to control their brain activity during a scan. Patients will be asked to complete tasks as directed during the fMRI scan. * Final visit: Researchers will ask questions about tic symptoms, have patients complete questionnaires, and perform a brief exam. Afterward, patients will have an fMRI scan similar to the previous one. * All participants will be paid a small amount of money in compensation for their participation in the study.
The primary objective of this study is to evaluate the long-term safety and tolerability of ecopipam tablets in children (greater than or equal to \[\>=\] 6 and less than \[\<\] 12 years of age), adolescents (\>=12 and \<18 years of age), and adults (\>=18 years of age) with Tourette's Syndrome (TS).
Background: Post-Infectious Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (PI-ME/CFS) refers to long-lasting and disabling fatigue or malaise, inability to recover after exercise, and physical and emotional discomfort that may occur after a person has an infection. Researchers want to learn more about its causes. Objective: To learn more about PI-ME/CFS. Eligibility: Adults ages 18-60 years who have finished at least 7th grade education and either: have ME/CFS that started after an infection OR had Lyme disease, were treated, and returned to normal health OR are healthy volunteers Design: Participants will initially have a 2-5 day inpatient visit at the National Institutes of Health Clinical Center in Bethesda. During the visit, participants will have: Medical history Physical exam Intravenous (IV) line. A thin plastic tube is inserted into a vein. Blood and urine collected Magnetic resonance imaging (MRI). Participants will lie in a machine that takes pictures of their brain. They may get a dye through their IV. Grip strength tested Saliva, cheek swab, and stool collected Tilt table test with measures of body functions such as sweating and breathing, blood pressure, and heart rate and blood and urine sample collection Collection of blood cells. Participants can choose to have the blood drawn through the IV or through a machine that filters blood cells and returns the liquid blood back into the participant s vein. Lumbar puncture. Fluid will be removed by placement of a needle between the back bones. Heart monitoring Sleep study for participants with PI ME/CFS Questions about the participant s life and how they are feeling Questions from a neuropsychologist Questions from an occupational therapist for participants with PI ME/CFS Questinos from a nutritionist After the initial visit participants will return home. Participants evaluated for PI-ME/CFS during the first visit will have their information reviewed by an adjudication panel of experts in the diagnosis and care of ME/CFS to determine if they are eligible to participate in the second study visit. Eligible participants will be invited back for a second study visit. If a participant was taking certain medications during the first visit, they may be asked to taper off of them prior to the second visit and report any problems. They will also receive an activity monitor, fatigue diary, and nutrition log to use for at least one week prior to their second visit. Participants who are eligible will return for a 5-10 day inpatient hospital visit at the National Institutes of Health Clinical Center. During the visit, participants will undergo measurements before and up to 96 hours after performing a stationary bike exercise test. The purpose of the exercise test is to provoke ME/CFS symptoms (post-exertional malaise). Tests will be performed before and after exercise testing. These include: Sleeping in a room that measures how the body uses energy with EEG monitoring Eating a controlled diet Performing vigorous exercise for 10-15 minutes Questions about how participants are feeling Questions about what participants usually eat Samples of saliva, blood, urine and stool Wearing an activity monitor Having an Xray that measures body composition Thinking and memory tests Heart monitoring Transcranial magnetic stimulation. A brief electrical current to the scalp creates a magnetic pulse that affects brain activity. Magnetic resonance imaging (MRI). Participants will lie in a machine that takes pictures of their brain. They will do thinking and exercise tasks during the MRI. Lumbar puncture. Fluid will be removed by placement of a needle between the back bones.
Patients come to their doctor showing possible symptoms of a movement disorder. It is possible that these symptoms may get worse over time. There is more than one disease that can cause such symptoms. The most common movement disorder illnesses are Parkinson´s Disease and Essential Tremor. Sometimes it is difficult for doctors to make the right diagnosis because the symptoms caused by these illnesses are almost the same. On the other hand the correct treatment for Parkinson´s Disease is different from the correct treatment for Essential Tremor. This study aims to see whether having pictures of the brain taken with DaTSCAN can affect the way the doctor treats these patients and whether it can affect their quality of life directly.
There is limited data on outcomes for children who have undergone deep brain stimulation (DBS) for movement disorders, and individual centers performing this surgery often lack sufficient cases to power research studies adequately. This study aims to develop a multicenter pediatric DBS registry that allows multiple sites to share clinical pediatric DBS data. The primary goals are to enable large-scale, well-powered analyses of the safety and efficacy of DBS in the pediatric population and to further explore and refine DBS as a therapeutic option for children with dystonia and other hyperkinetic movement disorders. Given the current scarcity of evidence available to clinicians, this centralized multicenter repository of clinical data is critical for addressing key research questions and improving clinical practice for pediatric DBS.
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life. This natural history study is designed to address the lack of understanding of disease progression. Additionally it will identify clinical and biomarker endpoints for use in future clinical trials.
To demonstrate that DMSt + RF improves eye blink quality in subjects with dry eye disease
Previous studies showed that a dose of 8 millicuries of Altropane was appropriate for imaging patients with suspected Parkinson's disease. This study will determine if a lower dose (5 millicuries) would suffice.
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life. This natural history study is designed to address the lack of understanding of disease progression and genotype-phenotype correlation. Additionally it will help in identifying clinical endpoints for use in future clinical trials.
The purpose of this study is to improve understanding of neurological conditions. Patients participating in this study will continue receiving medical care, routine laboratory tests, and diagnostics tests (X-rays, CT-scans, and nuclear imaging), from their primary care physician. Doctors at the NIH plan to follow these patients and offer advice and assistance to their primary care physicians.
This study will assess the safety and efficacy of ATH434 in participants with a clinical diagnosis of Multiple System Atrophy
This study will assess the safety and efficacy of ATH434 in participants with Multiple System Atrophy
The goal of the current trial is to determine safety of Once-daily aripiprazole in reducing Total Tic Severity in children and adolescents with Tourette's Disorder.
The goal of the current trial is to determine efficacy and safety of Once-daily aripiprazole in reducing Total Tic Severity in children and adolescents with Tourette's Disorder.
The goal of the present study is to provide novel data to evaluate brain iron concentration as a mediator of the association between iron supplementation treatment and improvement in symptoms of ADHD and RLS in children, including PLMS. Twelve participants between the ages of 10 and 15 years will be recruited via Kennedy Krieger Institute's Sleep Disorders Clinic. Eligible participants will be asked to complete, at baseline (pre-iron supplementation treatment) and again at follow-up (post-treatment): 1) a 7 Tesla MRI scan, 2) five consecutive nights of RestEaZe™ monitoring, 3) caregiver-reported (or patient-reported if over the age of 10 years) International Restless Leg Syndrome Scale (IRLSS), and 4) caregiver-reported ADHD Rating Scale-5. The treatment interval will be 3 months.
* Purpose - to validate a combination of biological and clinical markers in the rapid-eye-movement (REM) sleep behavior disorder (RBD) population as indicative of the pre-symptomatic stage of Parkinson's disease (PD). * Procedures - All subjects (RBD diagnosis and controls) will have 1) a medical and neuro history and physical including videotape of movements, 2) neuropsychological testing, 3) a sleep study, 4) olfactory testing, 5) blood draw for serum testing , 6) functional MRI. All of these procedures are often performed clinically in the diagnosis of PD. Enrollment of subjects with PD is complete. Any testing performed prior to enrollment as part of the clinical evaluation may be used in place of repeating the procedure for the study. Subjects will be followed for 5 years. It is hypothesized that a 5 year follow up may capture a significant number of pre-Parkinson's subjects who will be diagnosed. Subjects may be offered a repeat enrollment after 5 years.
This study will examine how the brain controls movement in people with Tourette syndrome and chronic tic disorder to determine if the timing of movement is important in whether someone feels "in control" of their movements. Although movements in tic disorders are often characterized as "involuntary," some patients claim that these movements are made voluntarily, or they are unable to decide if they are voluntary or involuntary. Previous experiments have shown that when people are asked to look at a clock and report the time they first decide to make a movement they report times later than the first brain waves associated with movement appear. When they are asked to report the time they first initiate the movement, they report times before the muscles actually begin to move. This study may help determine how the sense of willing and initiating an action is altered in patients with Tourette syndrome and chronic tic disorder, and how people may feel more or less "in control" of their movements. Normal volunteers and patients with Tourette syndrome or chronic tic disorder between 18 and 65 years of age may be eligible for this study. Control subjects must not have any neurological or psychological disorders, and patients with Tourette syndrome of chronic tic disorder must not have any other neurological disorders. Patients with attention deficit hyperactivity disorder (ADHD) may not enroll in this study. All participants will have a medical history, physical examination, and a test to determine their level of attention. Patients will be interviewed about their symptoms and complete psychiatric rating scales. In addition, all participants will undergo the following procedures: Electric shock Participants look at a clock on a computer screen, the hands of which revolves quickly. While looking at the clock, each participant will be given small, non-painful electric shocks and asked, according to the clock, to say when they received the shocks. The shocks are repeated 40 times. Arm movement Participants are asked to lift their arms off a table repeatedly, at random times, while they look at the computer clock. This exercise is repeated 80 times. Of these 80, participants are asked 10 times consecutively to say the time they first had the desire to move their arm, and then 10 consecutively the time they first felt that they were moving their arm. Electroencephalography (EEG) and Electromyography (EMG) Participants undergo EEG and EMG durin...
The primary objective of the study is to determine whether Butrans Transdermal System (BTDS) reduces RLS symptom severity in patients with moderate to severe idiopathic RLS who are naïve to opiate treatment. The secondary objective of the study is to investigate the effects of BTDS on mood, sleep, and quality of life. The study will consist of nine visits. Depending on the need for medication titration, there may also be two scheduled telephone contacts. Visit 1: This is a screening visit to determine study eligibility. Eligible subjects who choose to participate must undergo medication washout as described in the detailed protocol between visits 1 and 2. Treatment period #1 (Visits 2 - 5; day 0 - 28): Baseline measures will be recorded and subjects randomized to treatment order at visit 2 (day 0). Study medication as well as rescue medication (l-dopa, a non-blinded active treatment to be used within a limited dose range as described in the detailed protocol) will be dispensed. Subjects will begin treatment period #1 immediately after this. The study medication will be titrated within the allowed range according to subject's reported symptoms during visit 3 (day 7), visit 4 (day 14), telephone contact (day 21). Visit 5 will occur on day 28 and will include assessment of outcome measures for the first treatment period. Visit 5 will also mark the beginning of the second treatment period. Treatment period #2 (Visits 6 - 8; day 28 - 56): Procedures will be similar to those described above during treatment period #1. Visit 8 will mark the end of the second treatment period during which outcome measures will be ascertained. Follow up visit (Visit 9; day 70): This will be a safety follow-up visit approximately two weeks after visit 8 for review of adverse events.
Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2. The disorder is characterized by multiple developmental problems, as well as behavioral features, such as repetitive stereotypic hand movements, including hand washing, wringing, and tapping. While there is no cure for RTT, recent advances in the understanding of the disease suggest that the development of new, effective therapies is promising. This study will gather information on the genetic defects that cause RTT, the physical expressions of these defects, and disease progression. In turn, this may direct the development of future treatments. Expanded studies include individuals with MECP2 Duplication disorder, and RTT-related disorders including individuals with MECP2 mutations, but not meeting obligatory criteria for the diagnosis of RTT and individuals with mutations in CDKL5 and FOXG1 some of whom meet criteria for atypical RTT.
This study will use electroencephalography (EEG) and electromyography (EMG) to examine how the brain generates tics and controls voluntary movement in patients with Tourette's syndrome and chronic motor tic disorder. EEG records the electrical activity of the brain. For this test, a cap with built-in electrodes is placed on the subject's head, and the electrodes are connected to a monitor that records the brain activity. EMG records muscle activity using electrodes placed on the skin over muscles on the fingers or above the outer corner of the eyes. Healthy normal volunteers and patients with Tourette's syndrome and chronic motor tic disorder between 21 and 65 years of age may be eligible for this 2- to 3-hour study. Each candidate will be screened with a medical history, physical and neurological examinations, and a questionnaire that screens for psychiatric disorders. During EEG and EMG recordings, participants undergo the following tasks while seated comfortably in a sound-shielded room: Patients * Finger task: Patients raise their index finger once every 10 seconds for about 25 minutes. * Tic evaluation and mimicking: Patients allow their tics to occur as they do naturally. After each tic, they report whether the tic was voluntary and whether it was preceded by a sensation of urge. They then mimic tics that they normally have, at a rate of about once every 10 seconds. * Tic suppression task: Patients suppress tics they normally have for several minutes. They then allow the tics to occur naturally, without attempting to suppress them. Normal Volunteers * Finger task: Volunteers raise their index finger once every 10 seconds for about 25 minutes. * Open eye task: Volunteers keep their eyes open for a minute or so, and then resume blinking as often as feels comfortable. The process is repeated several times.
This study will investigate the brain areas that are activated by vocal and motor tics in patients with Tourette's syndrome and other tic disorders. Tics are involuntary repetitive movements similar to voluntary movements. They may be simple, involving only a few muscles or simple sounds, or complex, involving several groups of muscles in orchestrated bouts. This study will involve only simple motor tics, such as eye blinking, nose wrinkling, facial grimacing and abdominal tensing, and simple vocal tics, such as throat clearing, sniffing and snorting. Healthy normal volunteers and patients between 14 and 65 years of age with simple motor or vocal tics may be eligible for this study. Participants will have a brief medical history and physical examination and magnetic resonance imaging (MRI) of the brain. MRI uses a magnetic field and radio waves to produce images. For the procedure, the subject lies on a table that is moved into a cylindrical chamber containing a strong magnet. Earplugs are worn to muffle the loud thumping sounds made by electrical switching of the radio frequency circuits and protect against temporary hearing impairment. During the scan, normal volunteers will be asked to make simple movements or sounds designed to imitate tics, such as raising eyebrows, blinking or coughing. Patients with tic disorders will have two parts to the scanning session. First they will relax and allow tics to occur spontaneously, then they will be asked to imitate a specific tic when there is no urge to tic. Patients and healthy subjects will have electromyography (EMG) to record the timing of the voluntary movements and tics. For this procedure, several pairs of small, saucer-like electrodes are attached to the skin with a gel or paste. Electric signals from the electrodes are amplified and recorded on a computer. A microphone may be placed near patients to record any vocal tics. A video camera may also be used to record the tics.