Amyotrophic Lateral Sclerosis (ALS)

Researchers are evaluating a new imaging method to detect the accumulation of a protein called TDP-43, which is linked to rare brain diseases like frontotemporal dementia FTD and amyotrophic lateral sclerosis ALS. The study aims to see if the new PET tracer, called 18FACI-19626, is safe when injected and if it can reliably show abnormal TDP-43 in the brain. The study includes both healthy people and those suspected of having TDP-43 protein buildup to compare differences. The study involves up to 45 participants split into groups healthy controls, symptomatic gene mutation carriers with FTD, and patients with other TDP-43 related diseases. Participants receive an intravenous injection of 18FACI-19626 followed by a PET scan to track the tracers brain uptake. Some participants may have a second PET scan within a month to check if the results are consistent. The study lasts up to 3 months, including screening, scanning, and follow-up. During the study, participants will undergo physical and neurological exams, questionnaires, blood and urine tests, ECGs, and sometimes MRI scans to confirm eligibility and health status. After the PET scan, blood samples are taken, and participants receive a phone call 2 to 4 days later to monitor any side effects. The main measurements include safety assessments, brain uptake of the tracer, and how well the scans can quantify TDP-43. The study also evaluates radiation exposure and tracer consistency between scans.

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.

The GENESIS clinical study aims to map HLA genetic variation in the Greek population and evaluate possible correlations with selected underlying diseases. It is a multicenter, prospective, non-interventional clinical study targeting 12,000 subjects over an anticipated duration of 36 months, with the goal of creating a pilot HLA map for medical research and possible clinical applications. Each subject will complete one visit at a participating site and provide demographic information, including date of birth, gender, race, ancestry, height, and weight, as well as information about smoking or vaping, alcohol consumption, arterial blood pressure, diagnosed diseases, and current treatments. Recent clinical laboratory results from up to 12 months before sample collection may also be collected when available, including blood count, metabolic, liver enzyme, and biochemical parameters. Two buccal swabs will be collected from each subject for DNA extraction and HLA genotyping analysis. Selected DNA samples will also undergo low-pass whole genome sequencing to further investigate associations between the HLA region and autoimmune diseases. After the analysis is completed, an individualized ancestry report will be securely available to study subjects if they elect to access it.

Amyotrophic lateral sclerosis ALS is a progressive disease that weakens muscles and often leads to breathing problems, which is the leading cause of death in ALS. This research evaluates the timing and method of starting non-invasive ventilation NIV to assist breathing, as current guidelines vary and are not based on large studies. The study aims to explore early use of NIV in ALS patients before insurance criteria for coverage are met, using a new prediction tool to identify those at high risk of respiratory problems within six months. Participants will be randomly assigned to start early NIV or receive usual care, with the early NIV group receiving ventilation support earlier than current U.S. guidelines suggest. The study will collect data on feasibility, symptoms, carbon dioxide levels, and survival outcomes over about one year. The intervention involves using a ventilation device through a mask to help patients breathe and reduce carbon dioxide in the blood, potentially improving survival. Throughout the study, participants will undergo assessments including quality of life questionnaires, sleepiness scales, breathing function tests, and monitoring of NIV use and hospitalizations. The research team will measure the time to first NIV use, carbon dioxide levels, breathing symptoms, and survival without tracheostomy. Data collected will help plan a larger trial and understand which patients are likely to benefit from early NIV and use it consistently over time.

Researchers are evaluating the effects of the drug NB-4746 compared with a placebo in adults with amyotrophic lateral sclerosis ALS. This trial aims to understand the safety of NB-4746, how the drug moves through the body, and changes in a blood marker called neurofilament light NfL that reflects nerve cell damage. The study is conducted in two parts and includes an option for participants to join an open-label extension phase. In Part A, participants are randomly assigned to one of three groups low-dose NB-4746 capsules taken twice daily, high-dose NB-4746 capsules taken twice daily, or placebo capsules taken twice daily, all for about one month. In Part B, participants are randomly assigned to either NB-4746 at a dose determined from Part A or placebo, both taken twice daily for approximately 12 weeks. After completing Part A or B, participants may choose to enter an open-label extension to continue treatment for up to one year. During the trial, participants will have their ALS symptoms and overall health monitored regularly. The study team will assess safety by recording treatment-emergent adverse events and serious adverse events. Blood samples will be collected to measure NfL levels and evaluate drug movement in the body. Participants will be followed throughout the study and during the extension phase to track health status and treatment effects up to one year.

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 conducting a master protocol study called OLMP to evaluate the safety and tolerability of different treatments for adults with Amyotrophic Lateral Sclerosis ALS. This study includes participants from an earlier study, OWAA, who will be assigned to specific treatment groups such as the Sporadic ALS OL01 substudy. The research aims to monitor treatment effects over at least 96 weeks. Participants in the OL01 substudy receive the investigational drug LY4256984 administered intrathecally directly into the spinal canal. This open-label extension study focuses on long-term safety and tolerability of LY4256984 in adults with ALS. The study is designed as a parallel interventional trial with no masking or placebo control. During the study, participants will be closely monitored for safety and treatment tolerance. The main outcome measured is the number of participants assigned to each intervention-specific appendix over the 96-week period. Participation involves ongoing assessments and follow-ups to track safety and tolerability, with the overall study lasting until June 2029.

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 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 adenotonsillectomy. 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 adenotonsillectomy 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 adenotonsillectomy for OSA, with follow-up limited to the immediate postoperative period.