Multiple System Atrophy (MSA)

Researchers are conducting the 100-Year Human Aging Study, an observational trial designed to follow participants over their lifespans to investigate which health measurements can predict mortality, serious diseases, and functional disability. The study aims to validate many longevity measures that currently lack prospective evidence by tracking physiological, cognitive, social, and environmental factors that change with aging. This research will generate important data to improve understanding of aging and longevity medicine. Participants undergo comprehensive multi-system clinical screenings including tests like cardiopulmonary exercise testing, body composition assessment by DEXA, echocardiography, electrocardiography, spirometry, neurocognitive testing, sensory assessments, metabolic testing, and detailed medical and social histories. The study allows for different levels of participation, from single tests to full two-visit screening batteries, and encourages repeat testing to capture health changes over time. During the study, participants receive individualized reports including investigational estimates of biological age and predicted cause of death. Researchers collect data on mortality, serious health events, chronic diseases, functional ability, and lifestyle changes through periodic follow-up over many years, potentially up to 100 years. This extensive data collection helps evaluate how well these measurements predict aging outcomes. All data are stored in raw form for future analysis and participants are supported with ongoing contact and opportunities for repeat assessments.

This research focuses on elderly patients hospitalized in Continuing and Rehabilitation Care Units (CRCU) who often suffer from neurodegenerative diseases and require personalized rehabilitation care. Many of these patients struggle with eating independently due to difficulty gripping standard cutlery, which may contribute to malnutrition. The study aims to evaluate the use of customized ergonomic cutlery handles designed with 3D printing technology to improve patients' autonomy during meals. Participants will receive cutlery handles with diameters tailored to their hand grip capacity, determined by a functional and joint assessment conducted by an occupational therapist. The handles come in sizes of 25, 30, 35, or 40 mm and are made from lightweight, thermoformable materials using 3D printing and computer-aided design. The study includes assessments at three lunch times: before using the adapted cutlery (Day 0), the first use of the adapted handles (Day 1), and after three days of use (Day 3) to observe learning and adaptation. During the study, the occupational therapist will assess the patient's autonomy in eating using the Katz scale and perform ecological assessments of meal interactions on Day 0 and Day 3 to observe compensatory movements. A dietician will measure the amount of food ingested at each lunch. The patient’s participation concludes after the Day 3 assessments, with outcomes focused on changes in food autonomy and upper limb compensation during eating.

Researchers are investigating the effects of deep brain stimulation (DBS) on brain function in patients with various neurological and psychiatric disorders, including Parkinson's disease, essential tremor, dystonia, depression, epilepsy, neuropathic pain, and Alzheimer's disease. This prospective cohort study aims to use advanced MRI techniques, particularly functional MRI (fMRI), to better understand how DBS influences brain circuits and to explore whether fMRI can aid clinical practice in managing DBS therapy. Participants in this study include patients who will undergo or have already undergone DBS electrode placement. The study involves performing structural MRI scans using 1.5 Tesla or 3 Tesla machines as well as resting state and task-based fMRI scans. DBS patients will be scanned while their devices are programmed at different stimulation settings, including switched off and switched on states. The fMRI results will be shared with clinicians to help guide DBS programming decisions. During the study, participants will have multiple brain scans from three months before DBS implantation to one year after. Researchers will assess brain areas activated by DBS, examine structural and functional brain connectivity through MRI, and monitor clinical outcomes. The study includes regular evaluations to observe how DBS impacts brain function over time, aiming to improve post-operative follow-up and optimize treatment for these patients.

Researchers are evaluating the use of [18F]-MFBG PET scans to assess heart nerve activity in people with Parkinson's disease (PD), multiple system atrophy (MSA), dementia with Lewy bodies (DLB), and Alzheimer's disease (AD). The study compares this method with the current standard [123I]-MIBG SPECT scans, focusing on distinguishing between PD and MSA as well as DLB and AD. This is a prospective study conducted at two centers, aiming to validate the accuracy and feasibility of [18F]-MFBG PET for these neurological conditions. Participants will undergo several imaging tests including dynamic cardiac [18F]-MFBG PET, [123I]-MIBG SPECT, and cerebral [18F]-PE2I PET scans. Healthy volunteers and patients with confirmed diagnoses will be included, with groups divided by age and disease duration. A dosimetry study will also be conducted for healthy volunteers to measure radiation exposure from [18F]-MFBG. Multiple visits to the hospital are required for scans and assessments. During the study, participants will have thorough neurological assessments, brain MRI scans, and blood sampling alongside PET and SPECT imaging. Researchers will evaluate diagnostic accuracy, effect size of tracer uptake changes, and relationships between heart nerve imaging and brain dopamine transporter changes and autonomic dysfunction. The study includes monitoring for safety and will analyze regional heart uptake patterns. Participants can expect 3 to 4 hospital visits with detailed imaging and clinical evaluations over the study period.

Researchers are evaluating a new imaging agent called [18F]ACI-15916 to safely and reliably measure the buildup of a protein called alpha-synuclein in the brain. This protein is involved in conditions like Parkinson's disease, Lewy body dementia, and Multiple System Atrophy, collectively known as alpha-synucleinopathies. The study includes both healthy volunteers and people with suspected alpha-synuclein-related diseases to compare protein levels and assess safety and detection accuracy. The study is an open-label, early-phase PET microdose trial involving up to 46 participants divided into four parts. Participants will receive an intravenous injection of [18F]ACI-15916 followed by a PET scan to detect alpha-synuclein deposits. Some will have a second PET scan to test measurement reliability, while others will undergo a whole-body PET-CT scan to estimate radiation dosage. The study includes a screening phase, scanning visits, optional spinal fluid collection, and follow-up safety calls. Participants will visit the clinic for consent, eligibility assessments including physical exams, neurological exams, questionnaires, blood and urine tests, ECG, and in some cases MRI and PET scans with a licensed tracer. During the PET scan, blood samples will be collected, and some may provide spinal fluid. Safety is monitored through follow-up phone calls. The total study duration ranges from 10 to 14 weeks depending on the part of the study the participant is in. Researchers will measure brain uptake of the tracer, adverse events, vital signs, and the reproducibility of PET scan results.

Alpha-synucleinopathies are age-related neurodegenerative disorders characterized by the build-up of alpha-synuclein in nerve cells, leading to conditions like Parkinson's disease, Multiple System Atrophy, and Dementia with Lewy Bodies. Pure Autonomic Failure is a related condition affecting the peripheral autonomic nervous system and may signal risk for developing central nervous system synucleinopathies. Researchers aim to identify biomarkers, especially changes in dopamine production in key brain areas, to predict progression from peripheral to central disease. Participants receive a radiolabeled drug called [18F]F-DOPA, which is used in PET scans to study dopamine activity in the brain. Before the PET scan, patients take oral doses of carbidopa and entacapone to enhance imaging quality by reducing peripheral metabolism of [18F]F-DOPA. The PET scan involves a slow injection of [18F]F-DOPA followed by about 95 minutes of serial brain imaging to observe dopamine-related changes. During the study, participants undergo clinical exams to confirm diagnosis and receive the PET imaging procedure. Researchers measure differences in [18F]F-DOPA uptake across patient groups 95 minutes after imaging starts to assess dopamine function. The study includes patients with autonomic failure, possible synucleinopathies, and healthy adults aged 18 and older. The study is designed to monitor safety and gather detailed imaging data over the scan period.

Researchers are evaluating the use of [18F]NIDF PET imaging to visualize abnormal tau protein pathology in the brains of living humans. This technique targets tau neurofibrillary tangles, which are linked to neurodegenerative diseases such as Alzheimer's and other tauopathies. The study focuses on assessing the safety and diagnostic effectiveness of this imaging agent, which may offer advantages over existing tau PET tracers due to its stronger binding and lower off-target effects. Participants will receive a single intravenous injection of approximately 10 b1 3 mCi of [18F]NIDF. Following the injection, a PET/CT scan will be performed to capture images showing the distribution of the tracer in the brain. The study includes both healthy volunteers and patients with cognitive impairment or probable Alzheimer's disease. There is only one main study period involving this single injection and imaging session. During the study, participants will be monitored for safety from the time of injection up to seven days afterward. The primary assessments include safety evaluation and measuring how the tracer spreads in the body during the PET/CT scan on the injection day. Researchers will also evaluate the diagnostic performance of the imaging over a two-week period from enrollment to the end of imaging. Participants' involvement is limited to the injection, scanning, and follow-up safety checks.

Researchers are evaluating a low-cost augmented reality platform for balance training in patients with balance disorders caused by degenerative injuries or cerebrovascular diseases. The study aims to determine if the system is usable, acceptable, safe, and if it improves balance. The trial is a usability study conducted by the Hospital Universitari Vall d'Hebron Research Institute. The intervention has two phases: the first phase lasts four weeks with supervised balance training sessions at the hospital, conducted for 60 minutes, three times a week. If patients meet inclusion criteria, the intervention continues for two additional weeks at home with a family member trained to assist as a training partner. The platform uses different exercise protocols accessed through RGSweb, including balance and sit-to-stand exercises with visual targets and movement tracking. Participants undergo three assessments: before treatment (Day 0), after the hospital phase (Week 4), and after the home phase (Week 6). Evaluations include usability scales, adherence measures, balance tests like the Berg Balance Scale, postural sway, sit-to-stand tests, balance confidence, and quality of life questionnaires. Safety is monitored throughout, and adherence is tracked during both hospital and home interventions.

Researchers are developing a multicenter registry to collect and share data on pediatric patients who have undergone deep brain stimulation (DBS) for movement disorders such as dystonia, epilepsy, Tourette syndrome, and mood disorders. The study aims to improve understanding of DBS safety and effectiveness in children, as current data are limited and individual centers often have too few cases for strong research. This registry will support large-scale analyses and help refine DBS as a treatment option for hyperkinetic movement disorders in the pediatric population. The study involves gathering both retrospective and prospective clinical data from multiple pediatric centers. The registry will collect information on surgical techniques, patient outcomes, implant sites, and long-term effects of DBS. This collaborative data-sharing approach enables comprehensive evaluation of which patients benefit most from DBS and how it impacts their quality of life over time. Participants include children aged 0 to 18 years who have already received or are scheduled to receive DBS for neurological movement disorders. Data will be collected over five years to monitor safety, efficacy, and quality of life outcomes. The study does not involve treatment administration but focuses on gathering and analyzing clinical information. Parental or legal guardian consent is required for prospective participation.

Researchers are evaluating the safety, tolerability, pharmacokinetics, and potential effectiveness of YA-101 in people with multiple system atrophy (MSA), a rare neurological condition. This Phase 2, double-blind, placebo-controlled, multi-center study aims to compare two doses of YA-101 against a placebo. The study is designed to gather important information on how the drug behaves in the body and its impact on symptoms of MSA. Participants will be randomly assigned to receive either YA-101 or a placebo, both taken twice daily. The study includes a dose escalation approach to assess the effects of different doses. The treatment period lasts up to 112 days, during which safety and response to the drug will be closely monitored. During the trial, participants will have regular assessments including evaluations of adverse events, drug concentration in the blood, and changes in MSA symptoms using scales such as the Unified Multiple System Atrophy Rating Scale and a 10-meter walking test. Safety tests will also be conducted to track any side effects. The total study participation spans from baseline through Day 112, with careful monitoring to understand the drug's effects and tolerability.