Muscular Dystrophy

This observational study investigates how self-compassion and self-efficacy relate to symptom severity, functional ability, and quality of life in adults diagnosed with Parkinsons disease. The research aims to better understand these psychological factors in people living with Parkinsons disease stages 1 to 3, within an age range of 40 to 85 years. Participants will complete a set of self-report questionnaires during one session to assess their levels of self-compassion, self-efficacy, symptom severity, functional status, and quality of life. No therapeutic treatments or interventions are provided. The study collects data at a single time point to analyze associations among these outcomes. During the study visit, participants will be assessed with various scales and tests including the Self-Compassion Scale, Self-Efficacy for Managing Chronic Disease scale, Unified Parkinsons Disease Rating Scale, Timed Up and Go test, Six-Minute Walk test, Mini-Balance Evaluation Systems Test, and Parkinsons Disease Questionnaire-39. These assessments help evaluate physical function, symptoms, and quality of life. The study is led by Acibadem University and participation involves completing questionnaires and physical tests in one session.

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 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.

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 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 therapys 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.

This research aims to evaluate the safety and gene expression of delandistrogene moxeparvovec, a gene transfer therapy, in males with Duchenne Muscular Dystrophy DMD. The study focuses on non-ambulatory participants in Cohort 8, while enrollment for earlier cohorts has been completed. The study is open-label and conducted by Sarepta Therapeutics, Inc., with a maximum participant duration of 156 weeks. Participants will receive a single intravenous infusion of delandistrogene moxeparvovec on Day 1. The study measures dystrophin protein expression at 12 weeks post-infusion, as well as safety outcomes including acute liver injury and other adverse events up to 72 weeks for Cohort 8. Additional assessments monitor vector shedding, antibody levels, treatment-emergent adverse events, and steroid use for up to 156 weeks. During the study, participants undergo various assessments including laboratory tests, biomarker evaluations, and motor function testing. Researchers will collect samples such as urine, saliva, and stool to track vector shedding and measure immune responses. Safety monitoring includes tracking liver-related events and infections. The total study participation may last up to about 3 years, allowing for long-term follow-up of treatment effects and safety.

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.

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.