Huntington Disease

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]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 conducting the GENESIS clinical study to map the HLA genomic region in the Greek population and explore its possible links with various underlying diseases. This non-interventional, multicenter study aims to provide a pilot map of genetic variation in HLA that may be useful in medical research and clinical applications related to selected diseases. The study plans to include 12,000 participants over a total duration of 36 months. Each participant will attend one visit at a participating site during which they will provide demographic data, lifestyle information such as smoking and alcohol use, blood pressure measurements, details on diagnosed diseases and treatments, and recent laboratory test results if available. Buccal swab samples will be collected from each participant to extract DNA for HLA genotyping analysis. Selected samples will undergo further whole genome sequencing to investigate associations with autoimmune diseases. Participants will receive a personalized ancestry report after analysis completion. During the study visit, data collection includes demographic and health information, as well as laboratory and clinical test results from the past year. The genetic material from buccal swabs will be stored and processed for genetic analysis. Researchers will measure allele frequency of HLA alleles in the Greek population and assess the prevalence and risk associations of selected HLA-related diseases. The study's total duration is 36 months with results available at the end of this period.

Researchers are conducting a first-in-human, multi-center clinical trial to study the effects of SRP-1005 in people with Huntington's disease (HD). The trial is designed to evaluate the safety and impact of SRP-1005, a drug given by subcutaneous injection, compared to a placebo. The study includes adult participants aged 21 to 70 years who have a genetically confirmed diagnosis of HD and are at specific disease stages. Participants will be randomly assigned to one of four groups receiving different doses of SRP-1005 or a placebo. The study is double-blind, meaning neither the participants nor the researchers know who receives the drug or placebo. The treatment period includes dose escalation and monitoring to assess the drug's presence in plasma, urine, and cerebrospinal fluid over several weeks. During the study, participants will be monitored for side effects and adverse events from baseline through 24 weeks. Researchers will collect blood, urine, and cerebrospinal fluid samples to measure drug levels and safety. Participants must agree to use effective contraception if applicable, and the study excludes those with certain infections, other neurological illnesses, or conditions that prevent safe lumbar puncture or MRI. The total participation lasts at least 24 weeks with ongoing safety assessments.

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 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 intervention's effects on brain health and daily functioning over the 24-month period.

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.

This research aims to evaluate postoperative respiratory complications (PORC) in children with obstructive sleep apnea (OSA) who undergo (adeno)tonsillectomy. It combines data from two centers: University Hospital Antwerp and Heim Pal National Pediatric Institute in Hungary. The study examines how common these complications are and whether they vary according to different health conditions such as obesity, craniofacial malformations, Down syndrome, or neurological disorders that affect airway muscle tone. Data come from a retrospective analysis of electronic health records originally collected in two prospective studies. These records include children who had (adeno)tonsillectomy for OSA, with postoperative care following a set protocol. The study looks at factors like the obstructive apnea-hypopnea index, oxygen levels during sleep studies, age at surgery, and presence of other health conditions to understand their relationship with PORC and to help develop a management plan. Participants' information was collected without needing additional consent because it uses existing anonymized data. Researchers assess the prevalence of PORC within 24 hours after surgery and analyze how different factors affect this risk. This study does not involve new treatments but reviews existing data to improve postoperative care. The study includes children aged 1 to 18 years who had (adeno)tonsillectomy for OSA, with follow-up limited to the immediate postoperative period.