Myopathy

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.

Researchers are studying SELENON-related myopathy SELENON-RM and LAMA2-related muscular dystrophy LAMA2-MD, which are rare neuromuscular disorders characterized by progressive muscle weakness, spinal rigidity, scoliosis, and breathing difficulties. There are currently no curative treatments, but promising preclinical research is underway. This extended study builds on previous 1.5-year data to better understand the natural history of these diseases and prepare for future clinical trials and care improvements. The study is an observational natural history study involving Dutch-speaking patients of all ages diagnosed with SELENON-RM or LAMA2-MD. Participants will have two follow-up visits at 3 and 5 years after their initial visit. During these visits, they will undergo various assessments including neurological exams, functional tests, questionnaires, muscle ultrasound, MRI scans, lung function tests, and activity monitoring using accelerometers. The tests are tailored to each participants age and abilities. Participants will be carefully evaluated over time with measures such as motor function, physical activity, muscle condition, pulmonary function, pain, fatigue, and quality of life. These assessments help track changes from baseline at 3 and 5 years. The study poses minimal risk and aims to provide detailed health information to participants while supporting the development of future treatment trials. The total participation duration spans at least five years from the first visit.

Researchers are evaluating an open-label, dose escalation study for patients with relapsed and refractory autoimmune diseases. The study focuses on a therapeutic biological product called TI-0032-III injection, which uses lipid nanoparticles to deliver circular RNA encoding the CD19 chimeric antigen receptor CAR targeting T cells. This treatment is intended for various difficult-to-treat B cell-related autoimmune diseases, including systemic lupus erythematosus, Sjgrens syndrome, systemic sclerosis, idiopathic inflammatory myositis, and antiphospholipid syndrome. Participants will receive multiple doses of TI-0032-III injection infused into the body. This in vivo CD19-targeted CAR T cell therapy is being studied for safety and efficacy, with treatment delivered over a period involving dose escalation. The trial is an interventional Phase 1 study where the investigational injection is the main intervention. During the study, participants will be monitored for safety outcomes from the first dose up to 12 months. Researchers will also assess efficacy outcomes for the different autoimmune diseases up to 3 months after the first dose. Evaluations include clinical assessments and laboratory tests to measure treatment impact and safety. The total participant involvement will span at least one year to observe safety and disease response.

Researchers are studying the safety and effectiveness of YTS109 cells in adults aged 18 to 65 with relapsed or refractory autoimmune diseases, including Systemic Lupus Erythematosus SLE and related conditions such as Lupus Nephritis LN, SLE-associated immune thrombocytopenia, Sjogrens Syndrome, systemic sclerosis, inflammatory myopathy, ANCA-associated vasculitis, and antiphospholipid syndrome. This phase 1, open-label study aims mainly to evaluate safety and also to examine how well YTS109 cells work and behave in the body. Participants will receive a single infusion of YTS109 cells, starting at a dose of 310 STAR-T cells per kilogram of body weight. The dosing will follow a 33 escalation design to carefully adjust the dose. There is only one treatment group in this study. The infusion is a one-time procedure during the treatment period. During the study, participants will be closely monitored through regular assessments up to 52 weeks after treatment. Safety is tracked by observing adverse events and their severity. Effectiveness is assessed at multiple time points from 2 to 52 weeks. Blood tests will measure YTS109 cell levels, cytokine changes, and B cell recovery. Participants must agree to informed consent and follow-up visits to complete all evaluations throughout the study duration.

Researchers are evaluating the safety and potential effectiveness of YTS109 cells in adults aged 18 to 65 who have relapsed or refractory autoimmune diseases, including systemic lupus erythematosus, systemic sclerosis, and several others. This exploratory clinical trial aims to better understand how well YTS109 cells work and their safety when used with a lymphodepletion regimen. The study is conducted as a single-arm, open-label trial at a single center. Participants will receive one infusion of YTS109 cells at a dose of 1.5 million cells per kilogram of body weight. The study focuses on monitoring adverse events and assessing efficacy over various time points. The treatment is designed to target and reduce B cells to help manage autoimmune responses. The trial plans to enroll approximately 6 to 12 patients. During the study, participants will be closely monitored for safety and treatment effects at intervals including 2, 4, 8, 12, 24, and up to 52 weeks after treatment. Researchers will conduct blood tests to measure the levels of YTS109 cells, biomarker changes, and immune system responses. The primary outcomes are the type, severity, and frequency of any adverse effects, along with efficacy evaluations. The total observation period extends up to one year to thoroughly assess safety and response to treatment.

Researchers are evaluating the safety and effectiveness of YTS109 cells in adults aged 18 to 65 who have relapsed or refractory autoimmune diseases such as Systemic Lupus Erythematosus SLE, Lupus Nephritis LN, SLE-associated immune thrombocytopenia SLE-ITP, Sjogrens Syndrome, Inflammatory Myopathy, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis, and Antiphospholipid Syndrome APS. This Phase 1, open-label trial will enroll about 18 patients to study safety, effectiveness, and how the YTS109 cells behave in the body. Participants will receive a single infusion of YTS109 cells starting at a dose of 3 million STAR-T cells per kilogram of body weight. The dose will be increased gradually using a 33 escalation method. The study focuses on observing adverse events and evaluating treatment response over several weeks. The trial is conducted by China Immunotech Beijing Biotechnology Co., Ltd. at the Institute of Hematology & Blood Diseases Hospital. During the study, patients will be monitored closely with assessments at 2, 4, 8, 12, 24, and up to 52 weeks after treatment. Researchers will track the types, severity, and frequency of any adverse events, measure drug levels in the blood, evaluate immune system responses, and assess disease activity. This detailed monitoring includes laboratory tests and clinical evaluations to ensure patient safety and to understand how the therapy affects the autoimmune conditions over time.

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 a group intervention called Lev-g, designed to promote healthy habits in individuals with neurodevelopmental disorders or those closely related to children with disabilities. This brief, transdiagnostic, interprofessional program addresses health-related habits that influence mental and physical health, aiming to provide a usable model across various healthcare settings in Sweden. The study focuses on understanding the feasibility, acceptability, and potential effects of this intervention in improving health behaviors. Lev-g consists of three group sessions plus a booster session, employing psychoeducation, motivational interviewing, and applied behavioral analyses. The group format aims to provide peer support and sharing of tips among participants. There is no control group, as this trial tests the feasibility of the intervention. The program is delivered in healthcare settings and is intended for adults aged 15 to 80. Participants will be assessed for completion rates, satisfaction, treatment credibility, adverse events, and goal achievement throughout and after the intervention. Evaluations include questionnaires for both participants and healthcare workers at multiple time points up to 3 to 4 months. Researchers will measure well-being, self-efficacy, and changes in health-related habits, tracking progress from baseline through the booster session. The study is expected to conclude by early 2027.

This research aims to develop and test a modified minimally invasive surgical technique for sinus floor augmentation in patients with a residual bone height of 3 to 6 millimeters. The goal is to create a reliable implant bed of at least 10 millimeters in height after a healing period of 3 to 5 months. The study also seeks to reduce patient stress compared to traditional methods. Participants will undergo the sinus floor elevation procedure, which is being evaluated to improve outcomes and comfort. This surgical technique is studied on a pilot group of 12 patients, with no placebo or comparative treatments involved. The procedure targets the maxillary sinus area to enhance bone structure for dental implant placement. During the study, participants will be monitored to measure the height of bone augmentation after 4 to 5 months of healing. The research team will assess the surgical results and patient recovery, including any side effects or complications. The total duration includes the surgery followed by the healing and evaluation period to determine the procedures effectiveness and patient impact.

This research aims to better understand Ryanodine Receptor 1-related disorders RYR1-RD, a group of rare genetic muscle diseases that affect both children and adults. These disorders often cause muscle weakness and progress slowly over time. The study is observational and seeks to gather detailed information about the signs, symptoms, and progression of these conditions to improve knowledge and support future clinical trials. Participants who can walk will visit the Clinical Center once a year for up to five years, with each visit lasting two to three days. Those who cannot walk will participate through telehealth visits once a year for the same duration. During these visits, researchers will collect various data including photos, videos, blood and urine samples, and activity tracking with wearable devices. Additional tests for those attending in person include heart and lung function assessments, motor skills and strength evaluations, imaging scans, eye exams, and optional skin biopsies for adults. Throughout the study, participants will complete questionnaires about their health, pain, fatigue, stress, and quality of life. Researchers will monitor changes in muscle function, lung capacity, and patient-reported outcomes over three and five years. The study also includes exploratory biomarker research and uses multiple clinical assessments to track disease progression. The total involvement time varies but includes annual visits over three to five years, with some participants attending in person and others remotely.