Spinocerebellar Ataxia

The 100-Year Human Aging Study is a long-term observational research project enrolling adult participants to undergo detailed multi-system health screenings and follow them throughout their lives until death. The study aims to identify which health measurements taken at enrollment and repeatedly over time can predict overall mortality, cause-specific death, serious diseases, and functional disability. It addresses the current lack of validated longevity measures by generating data on how various physiological and cognitive functions relate to aging outcomes. Participants undergo a comprehensive clinical screening that includes tests of cardiorespiratory fitness, strength, mobility, neurocognitive performance, sensory functions, and metabolic health. Structural imaging assessments like DEXA scans, echocardiography, electrocardiography, spirometry, retinal photography, and vascular ultrasound are performed. Laboratory tests and detailed medical, social, and environmental histories are also collected. The study allows participation from single tests up to a full two-visit screening, with repeat testing encouraged to track health changes over time. Throughout the study, participants receive individualized reports with investigational estimates of biological age and predicted mortality risks, which are being evaluated against actual health outcomes. Researchers collect data continuously on mortality, disease occurrence, disability, and health behavior changes. The study involves ongoing follow-up with periodic assessments and aims to preserve all collected data for future analyses, with participant involvement potentially spanning their entire lifespan.

This research focuses on elderly patients hospitalized in Continuing and Rehabilitation Care Units, many of whom suffer from neurodegenerative diseases and need personalized rehabilitation care. The study evaluates the use of ergonomic cutlery handles tailored to patients hand grip ability, aiming to improve their autonomy during meals and potentially reduce malnutrition risks. These custom handles are made using 3D printing technology, offering a lightweight and inexpensive alternative to standard adapted cutlery. Participants will start with a functional and joint assessment of their hand to determine the optimal diameter for the cutlery handles 25, 30, 35, or 40 mm. Their autonomy in eating and the amount of food consumed will be measured at three lunch times before using the adapted handles Day 0, the first lunch using the handles Day 1, and after three days of use Day 3. Ergotherapists will also assess upper limb compensations during meals without and with the technical aid. Throughout the study, participants autonomy in eating is evaluated using the Katz scale, with additional assessments by ergotherapists and dieticians. The study tracks changes in food intake and physical compensations over three days, ending after the Day 3 assessments. The main outcome measured is patients food autonomy at Day 1, with secondary outcomes including autonomy and food intake at Day 3 and upper limb compensations. Participation lasts only through the initial assessment and the three-day intervention period.

Researchers are investigating the effects of deep brain stimulation DBS on brain function in patients with various neurological and psychiatric disorders, including Parkinsons disease, essential tremor, dystonia, depression, epilepsy, neuropathic pain, and Alzheimers 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 18FNIDF 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 Alzheimers 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 18FNIDF. Following the injection, a PETCT 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 Alzheimers 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 PETCT 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 dHebron 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 investigating the effects of a multidomain lifestyle intervention to slow cognitive decline and dementia risk in elderly residents aged 60 to 80 in Zhejiang Province, China. The study builds on findings from Finland, where a similar approach combining physical activity, nutrition, cognitive training, social activities, and vascular risk management showed promise in healthy older adults at risk of cognitive decline. This trial aims to explore how such an intervention may change brain structure and function as well as cognitive abilities in an Asian population. Participants are randomly assigned to either a structured multidomain intervention group or a self-guided control group. The intervention group receives tailored nutritional guidance, cognitive training, physical exercises, and vascular risk monitoring, all adapted to Chinese cultural norms. The control group receives regular health education campaigns and basic health monitoring every 6 to 12 months. This trial runs for two years with ongoing assessments to evaluate the impact of these lifestyle changes. During the study, participants undergo various evaluations including cognitive tests measuring global and domain-specific cognition, neuroimaging scans like MRI and fMRI, laboratory blood tests, and physical performance measures such as grip strength and gait speed. Questionnaires assess quality of life, depression, sleep quality, and daily activities. Researchers also monitor cardiovascular health, dementia onset, and falls. This comprehensive monitoring will help determine the interventions effects on brain health and daily functioning over the 24-month period.

Researchers are studying the safety and effectiveness of a single dose of nexiguran ziclumeran NTLA-2001 compared to a placebo in people with hereditary transthyretin amyloidosis with polyneuropathy ATTRv-PN. This phase 3, multinational, randomized, double-blind, placebo-controlled trial involves about 60 participants with this nerve disease and genetic condition affecting the peripheral nervous system. Participants will be randomly assigned to receive a single intravenous infusion of either nexiguran ziclumeran 55 mg or a placebo of normal saline. To give everyone a chance to receive the study drug, participants may switch to the other treatment group at either 12 or 18 months, depending on specific study criteria. The study is designed to compare the effects of the drug and placebo over time. During the study, participants will be monitored for nerve function using the Modified Neuropathy Impairment Score 7 mNIS7 over 18 months and blood levels of serum transthyretin at 29 days and 18 months. Quality of life, body mass index, and other health measures will also be evaluated. The study includes careful safety monitoring and will last up to 18 months with ongoing assessments to track participants nerve health and overall well-being.

Researchers are conducting a Phase 3 clinical trial to evaluate the safety and effectiveness of AOC 1044, also known as delpacibart zotadirsen, for treating Duchenne Muscular Dystrophy DMD in boys aged 7 to 16 with specific gene mutations suitable for exon 44 skipping. This study is designed as a randomized, double-blind, placebo-controlled trial to assess the impact of this intravenous treatment on muscle function over time. Participants will be randomly assigned to receive either AOC 1044 or a placebo infusion every 6 weeks for 54 weeks, totaling 9 doses during the double-blind treatment period. After this, all participants can join an open-label extension where they receive AOC 1044 every 6 weeks for another 54 weeks, adding 9 more doses. Following the final dose at week 102, participants will have assessments at weeks 108 and 114 to evaluate safety and treatment effects. During the study, participants will undergo various assessments including tests for time to rise velocity, muscle strength, walking and climbing abilities, and quality of life measures. Muscle enzyme levels and global impressions of severity and change from both patients and caregivers will also be monitored. Safety and tolerability will be reviewed regularly by an independent committee. Overall participation lasts over two years, including screening, treatment, extension, and follow-up phases.

Cerebellar ataxia is a condition that affects coordination, balance, walking, limb movements, and eye movements due to problems in the cerebellum. This study aims to understand the clinical and genetic features of cerebellar ataxia by creating a registered group of Chinese patients with this condition to follow over time. This observational study does not involve any treatment or intervention. It includes patients diagnosed with cerebellar ataxia by two neurologists, their relatives, and unrelated healthy individuals to serve as controls. Participants or their legal guardians must be willing and able to give informed consent. Participants will be followed up for up to 20 years to observe the occurrence of hereditary cerebellar ataxia. Researchers will collect clinical and genetic information during the study period. The study also tracks participant adherence and compliance with scheduled visits, with attention to those able to complete trial procedures and visit schedules.

Cognitive problems often occur in people with neurodegenerative diseases. Researchers are exploring how sleep disorders relate to the progression of these diseases by studying their clinical signs, brain imaging, and biological markers. This observational study aims to better understand the mechanisms behind sleep problems in neurodegenerative conditions. Participants will have assessments including neuropsychological tests, brain MRI scans, and electroencephalograms. Biological samples will also be collected to measure markers like plasma Ab2-42 levels. These evaluations will help observe changes in sleep quality, cognitive function, heart rate variability, and other relevant outcomes over time. People in the study will undergo baseline and follow-up tests such as the Pittsburgh Sleep Quality Index PSQI, Montreal Cognitive Assessment MoCA, and Addenbrookes Cognitive Examination ACE-III. Researchers will monitor sleep patterns and biological markers to track disease progression. The study includes adults aged 30 to 80 years and will continue through June 2030, providing long-term data on sleep disorders linked to neurodegeneration.