Myopathy

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.

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 participant's 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, Sjögren's 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, Sjogren's 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 3×10⁶ STAR-T cells per kilogram of body weight. The dosing will follow a 3+3 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), Sjogren's 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 3+3 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.

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 procedure's 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.

Researchers are studying pyrimidine and purine metabolism disorders (DPPMs), which affect how the body processes certain chemicals and can cause a range of symptoms from mild to severe, impacting the brain, blood, kidneys, and immune system. This research aims to better understand the causes, features, and outcomes of these disorders by comparing affected individuals, their unaffected family members, and healthy volunteers. The study focuses on both known and novel DPPMs and seeks to identify genomic, clinical, pharmacological, laboratory, and dietary factors influencing disease variability. Participants are divided into three groups: those diagnosed with DPPMs, their family members without the disorder, and healthy volunteers. Affected participants visit the clinic at least once a year, undergoing physical exams, sample collections (blood, urine, saliva, stool), and various tests depending on symptoms, which may include skin and mouth swabs, heart, kidney, brain, and nerve function tests, dental, hearing, and vision exams, learning assessments, physical activity monitoring, imaging scans, and photographs. These evaluations may be spread over up to seven days, and affected participants may remain in the study indefinitely. Family members and healthy volunteers have a single study visit with a physical exam and sample collections. Throughout the study, researchers collect DNA and biological samples for genetic, biochemical, enzyme, and microbiome analyses. The study includes detailed clinical and laboratory assessments to track disease features and variability. Participants' medical, laboratory, and imaging data are collected following standard care protocols. The primary outcome is to describe features of poorly characterized DPPMs, while secondary outcomes focus on identifying factors associated with different clinical results. The study involves long-term monitoring and may continue indefinitely for affected individuals.

Researchers are studying the safety, tolerability, how the body processes, and immune response to XmAb657 in healthy adults and adults with autoimmune diseases such as Idiopathic Inflammatory Myopathies, Systemic Sclerosis, and Sjogren's Disease. This is a Phase 1, first-in-human, open-label clinical trial evaluating the effects of XmAb657 given by injection under the skin. The study aims to better understand the potential effects of XmAb657 in these populations. Participants will receive XmAb657 as a subcutaneous injection in a dose-escalation format. The study includes healthy adults and adults diagnosed with specific autoimmune diseases based on established classification criteria. The treatment is administered under medical supervision, and dosing levels may increase over time to monitor safety and immune responses. During the study, participants will be monitored for any side effects or adverse reactions, including serious or treatment-emergent events, through week 52. Blood samples will be collected to measure the levels of XmAb657 and assess its effects on the immune system. The study involves regular visits for safety assessments and pharmacokinetic and pharmacodynamic evaluations. Participants may be involved for up to a year to ensure thorough monitoring.