Muscular Dystrophy

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 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 evaluating the safety, tolerability, and early signs of activity of EPI-321 in adults aged 18 to 75 with facioscapulohumeral muscular dystrophy (FSHD) Type 1. This open-label, dose-escalation study aims to understand how well participants handle EPI-321 and how it interacts with its target to possibly reduce disease activity. The investigational drug uses a viral vector to deliver a genetic editor designed to silence a harmful protein involved in FSHD. Participants will receive a single intravenous infusion of EPI-321 at one of two dose levels: 2x10^13 or 4x10^13 vector genomes per kilogram. The study will monitor participants closely for safety and tolerability, while also collecting data on muscle function, imaging, and other markers of disease activity. The trial includes a dose-escalation phase to determine the best dose for future studies. During the study, participants will be observed in the hospital during the infusion and will have regular clinic visits for tests and assessments over approximately five years. Researchers will track adverse events and specific biological markers at baseline, 3 months, and 12 months to evaluate EPI-321's activity. Long-term follow-up will help assess safety and biological effects over time.

Researchers are studying the safety and effectiveness of RP-A501, a gene therapy using a modified virus to deliver the LAMP2B gene, in male patients 8 years and older with Danon Disease. This single-arm Phase 2 trial focuses on males who have a genetic variant of the LAMP2 gene and heart changes related to the disease. The goal is to understand how well this gene therapy works and how safe it is for this group of patients. Participants will receive one intravenous infusion of RP-A501, a gene therapy product made of a modified adeno-associated virus containing the human LAMP2B gene. This single dose is given during the treatment period, and patients are monitored over time to assess the therapy's effects. The study does not include a comparison group and focuses solely on this treatment. During the study, participants will be evaluated at regular intervals up to 60 months after infusion. Assessments include measuring LAMP2 protein expression in heart tissue, heart size and function via left ventricular mass index, and biomarkers indicating heart injury such as high sensitivity Troponin I and NT-proBNP. The study also tracks event-free survival and safety outcomes. Patients must be able to comply with study procedures and attend follow-up visits throughout the trial.

Researchers are evaluating the safety and expression of a gene transfer therapy called delandistrogene moxeparvovec in males with Duchenne Muscular Dystrophy (DMD). This open-label Phase 1 study aims to assess how well the gene therapy works in producing dystrophin protein, which is important for muscle function. Enrollment for most study groups has been completed, with one group currently enrolling new participants. The study can last up to 156 weeks for each participant. Participants will receive a single intravenous infusion of delandistrogene moxeparvovec on the first day of the study. Different cohorts within the trial include ambulatory and non-ambulatory participants of various ages, some on stable steroid doses and others not using steroids. The study monitors participants for effects on dystrophin expression and safety outcomes over time, including liver function and antibody levels. During the study, participants will undergo motor assessments and have samples collected to measure dystrophin protein levels using methods like western blot and immunofluorescence. Researchers will also track adverse events and monitor for infections or liver injury up to 156 weeks. The study includes detailed evaluations at baseline and specific weeks, with safety and biological markers closely observed throughout the participation 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.

Researchers are evaluating anitocabtagene autoleucel (anito-cel), a BCMA-directed CAR-T cell therapy, in adults with generalized myasthenia gravis (GMG) classified as MGFA Grade 2 to 4a. This Phase 1 open-label, multi-center study aims to assess the safety, tolerability, and preliminary efficacy of anito-cel in patients who require immunosuppressive therapy as determined by their neurologist. The study focuses on identifying dose-limiting toxicities (DLTs), the maximum tolerated dose (MTD), and selecting the recommended Phase 2 dose (RP2D) for treatment. The study includes sequential phases: screening, enrollment with leukapheresis to collect cells, pretreatment with a standard lymphodepletion chemotherapy regimen for 5 days, and a single intravenous infusion of anito-cel cells. Optional bridging therapy may be given while the CAR-T cells are prepared. Following infusion, participants will be closely monitored for safety and efficacy outcomes over time. Participants will undergo safety monitoring for at least 28 days after infusion, with safety data collected throughout the study duration of up to 24 months. Clinical effects will be evaluated using measures including the Myasthenia Gravis Activities of Daily Living (MG ADL) score, Quantitative Myasthenia Gravis (QMG) score, and Myasthenia Gravis Composite (MGC) scale. Additionally, blood tests will monitor autoantibody levels and pharmacokinetics of the therapy. This comprehensive follow-up ensures careful assessment of treatment impact and participant health.