Neuromuscular Disorder

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 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 [18F]ACI-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 [18F]ACI-19626 followed by a PET scan to track the tracer's 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 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 the effectiveness and safety of B007 in people with generalized myasthenia gravis, a condition that causes muscle weakness. This randomized, double-blind, placebo-controlled Phase II/III study aims to understand how well B007 works compared to a placebo in improving daily living activities affected by this condition. Participants will receive either a high or low dose of B007 or a matching placebo through subcutaneous injections on days 1 and 15. The study includes careful monitoring over approximately 16 to 24 weeks to assess changes in symptoms and quality of life, with a safety follow-up lasting about one year. During the trial, participants will be evaluated through various measures including the Myasthenia Gravis-Activities of Daily Living profile, quality of life questionnaires, and composite scores related to the condition. Researchers will also track any side effects or adverse events. The total participation time varies, with key assessments occurring around 16 to 24 weeks and safety monitored for about a year.

Researchers are evaluating the safety and tolerability of multiple doses of an investigational medicine called PGN-EDODM1 in adults with myotonic dystrophy type 1 (DM1). This randomized, double-blind study compares PGN-EDODM1 to a placebo to better understand its effects on this condition. The study is a Phase 2 trial sponsored by PepGen Inc and aims to assess how well participants tolerate the treatment and monitor any adverse events. Participants will be randomly assigned to receive either ascending doses of PGN-EDODM1 or a placebo, both given by intravenous infusion once every 4 weeks for a total of 12 weeks. The treatment period spans these 12 weeks during which doses are administered and safety is closely monitored. The placebo group receives saline infusions on the same schedule to provide comparison data. During the study, participants will be regularly assessed for safety by tracking any adverse events from the start through day 112. Researchers will also measure how the drug behaves in the body, including plasma concentration and half-life, as well as changes in muscle function and myotonia using video hand opening time, hand grip strength, and 10 meter walk/run tests. Muscle biopsies will be performed to study tissue changes. The entire participation period includes baseline assessments, treatment, and follow-up evaluations lasting up to about 112 days.

Researchers are evaluating the effectiveness and safety of Recombinant Botulinum Toxin Type A (YY001) injections for treating upper limb spasticity in adults who have had a stroke. This randomized, double-blind, multi-center phase II/III study compares YY001 with BOTOX4 and a placebo to better understand treatment options for this condition. Participants will receive a single intramuscular injection of either Recombinant Botulinum Toxin Type A (YY001) with a dose of 200-400 units, BOTOX4 with a dose of 200 units, or a placebo prepared with saline. The study includes three groups: the experimental group receiving YY001, an active-controlled group receiving BOTOX4, and a placebo-controlled group. Each participant receives only one injection during the treatment period. During the study, participants will be monitored at 1, 4, 8, and 12 weeks after treatment through assessments such as the Modified Ashworth Scale (MAS) for spasticity, Physician's Global Assessment, and Disability Assessment Scale (DAS). Researchers will also track any adverse events and the presence of antibodies to the treatment. The primary outcome is the change in MAS score at week 4. The study lasts at least 12 weeks with ongoing safety and efficacy follow-up.

Researchers are evaluating Claseprubart (DNTH103) in adults with multifocal motor neuropathy (MMN) to assess its safety, tolerability, pharmacometrics, and effectiveness. This Phase 2 randomized, double-blinded, placebo-controlled study aims to better understand how this drug works for people with MMN and to monitor any treatment-related side effects. The sponsor of this trial is Dianthus Therapeutics. Participants receive either Claseprubart or a placebo. On the first day, they get an intravenous loading dose, followed by subcutaneous doses every two weeks from Week 1 to Week 15. The study includes multiple groups receiving either 300 mg or 600 mg doses of Claseprubart, or placebo, to compare outcomes. This design helps researchers evaluate different doses and their effects. During the study, participants will be closely monitored from baseline up to Week 17 for side effects and treatment response, including grip strength, muscle function scores, disability scales, and quality of life measures. Some assessments continue up to Week 52 in an open-label extension period. Blood samples will be collected to analyze drug concentration and immune responses. Safety and effectiveness data are gathered through various clinical tests and questionnaires, ensuring comprehensive participant evaluation throughout the study.

Researchers are evaluating the safety, tolerability, and effectiveness of BBM-D101, a gene addition therapy, for boys with Duchenne Muscular Dystrophy (DMD). This single-arm, open-label study focuses on boys aged 4 to under 9 years with confirmed DMD gene mutations. BBM-D101 aims to deliver a therapeutic protein to muscle cells that may help support muscle function and prevent muscular dystrophy. Participants will receive a single intravenous infusion of BBM-D101. The study includes an initial 52-week period to assess safety, immune response, pharmacokinetics, and therapeutic effects, followed by a long-term follow-up of up to 5 years to monitor ongoing safety and efficacy. The treatment involves one dose only, with no placebo group. During the study, participants will undergo motor function assessments, muscle biopsy, MRI scans, and laboratory tests including serum creatine kinase levels. Researchers will monitor adverse events and changes in muscle function and biomarkers over time. Follow-up visits will continue for several years to observe long-term effects and safety, with careful tracking of any serious or dose-limiting side effects within the first 12 weeks.

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 studying the effects of NB-4746 compared with a placebo in adults with amyotrophic lateral sclerosis (ALS). The trial aims to evaluate reported side effects, how the drug is processed in the body, and changes in a blood marker called neurofilament light, which indicates nerve damage. The study includes two parts and offers an optional open-label extension for continued treatment up to one year. In Part A, participants are randomly assigned to one of three groups, receiving either a low dose or high dose of NB-4746 capsules or a placebo, taken twice daily for about one month. In Part B, participants are again randomized to receive NB-4746 at a dose determined from Part A or placebo, taken twice daily for 12 weeks. After completing Part A or B, participants may join an open-label extension to continue NB-4746 treatment for up to one year. Throughout the study, participants will have their ALS status and overall health monitored. Researchers will track side effects, safety, and tolerability from enrollment through the treatment periods. Blood tests will measure the neurofilament light levels to assess nerve damage. The trial includes regular check-ins and assessments to understand how NB-4746 affects participants over time.