Polymyalgia Rheumatica

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.

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.

Childhood obesity is a growing public health issue worldwide and especially in Spain, where it is more prevalent in southern regions. Factors contributing to this include dietary habits, physical inactivity, socioeconomic status, and family environment. The study aims to evaluate the impact of a nutritional intervention administered by school nurses to address childhood obesity and its health consequences, including heart and musculoskeletal issues. The study compares two groups of schoolchildren aged 6 to 16. One group receives a technological intervention using podcasts, gamification, and virtual reality to promote nutrition education and healthy behaviors. The control group receives traditional brochures with nutritional information. Both groups are monitored through various measurements and biometric data collected over a 15-month period. Participants will be assessed regularly for weight, height, body composition, circumference measures, blood pressure, and adherence to the Mediterranean diet using questionnaires. Additional evaluations include a 3D avatar system for anthropometric measures. The study includes data collection at multiple timepoints from 12 weeks up to 15 months, with ongoing monitoring to assess the effectiveness of the intervention and potential health improvements.

Researchers are conducting a Phase 3 clinical trial to evaluate the safety and effectiveness of AOC 1044, also known as delpacibart zotadirsen, for treating Duchenne Muscular Dystrophy DMD in boys aged 7 to 16 with specific gene mutations suitable for exon 44 skipping. This study is designed as a randomized, double-blind, placebo-controlled trial to assess the impact of this intravenous treatment on muscle function over time. Participants will be randomly assigned to receive either AOC 1044 or a placebo infusion every 6 weeks for 54 weeks, totaling 9 doses during the double-blind treatment period. After this, all participants can join an open-label extension where they receive AOC 1044 every 6 weeks for another 54 weeks, adding 9 more doses. Following the final dose at week 102, participants will have assessments at weeks 108 and 114 to evaluate safety and treatment effects. During the study, participants will undergo various assessments including tests for time to rise velocity, muscle strength, walking and climbing abilities, and quality of life measures. Muscle enzyme levels and global impressions of severity and change from both patients and caregivers will also be monitored. Safety and tolerability will be reviewed regularly by an independent committee. Overall participation lasts over two years, including screening, treatment, extension, and follow-up phases.

Researchers are studying the experiences of people who develop rheumatic immune-related adverse events irAEs after receiving immune checkpoint inhibitor immunotherapy. This study aims to understand how severe these events are, how they affect daily function, and the attitudes of patients towards different aspects of these side effects. The research focuses on conditions like arthritis and polymyalgia rheumatica that arise following this cancer treatment. This observational study does not involve any drug or treatment interventions. Instead, it gathers information through qualitative assessments from patients diagnosed by rheumatologists with inflammatory arthritis or polymyalgia rheumatica as irAEs after immune checkpoint inhibitor therapy. The study is sponsored by M.D. Anderson Cancer Center and will collect data over about one year. Participants will engage in interviews to share their experiences, which will help researchers evaluate the safety and adverse events associated with these immune-related conditions. The study includes monitoring adverse events throughout the study period. The total involvement duration averages one year, allowing for comprehensive understanding of the impact and progression of these rheumatic irAEs.

Researchers are studying the human microbiome, which includes bacteria and other microorganisms living on and inside the body, to understand its role in health and disease. This observational study aims to collect various microbiome samples to create a repository that will support future research. The samples will help validate tests, improve sample handling techniques, and identify targets for future clinical trials related to microbiome-associated diseases. Participants in this study may be asked to provide different types of biological samples including stool, urine, saliva, vaginal fluid, breast milk, and cells from areas like the cheek, nose, mouth, skin, rectum, or vagina. Some samples can be collected at home and mailed to researchers. Blood samples may be collected by needle or heelfinger prick for young children. Tissue samples from the intestine or skin may be collected if participants are undergoing endoscopy, colonoscopy, or biopsy for other reasons. During the study, participants will complete a questionnaire about their medical history and diet. Researchers will collect and store biological specimens for assay validation and research use. The study will assess the hosts microbiome response over time. Participants may be seen at the NIH clinic if over 3 years old. The study will continue until 2032, with ongoing sample collection and data gathering throughout the period.

This research aims to evaluate how well patients with various musculoskeletal conditions follow personalized home-based exercise programs prescribed by their physicians. It focuses on patients with degenerative, orthopedic, or neurological disorders undergoing rehabilitation. The study seeks to identify differences in adherence across these groups and explore factors such as demographics, clinical status, psychosocial elements, and physical function that might influence exercise compliance. Participants will receive customized home exercise programs designed by physical therapy and rehabilitation physicians based on their specific clinical needs. These exercises complement clinic-based treatments and are tailored to individual conditions within three subgroups chronic degenerative disorders, post-operative orthopedic rehabilitation, and neurological rehabilitation following conditions like stroke or hemiplegia. The home programs will last six weeks, with clear instructions and printed materials provided to support correct performance. During the study, patients adherence and clinical progress will be assessed at the beginning and end of the six-week program using standardized tools such as the Exercise Adherence Rating Scale, Beck Depression Index, Visual Analog Scale for pain, Barthel Index for daily living activities, Tampa Kinesiophobia Scale, and Health Assessment Questionnaire. Researchers will monitor mood, functional status, pain levels, and fear of movement to understand adherence patterns. The study will also evaluate patients satisfaction and factors influencing their commitment to the home exercises, aiming to improve future rehabilitation strategies.

Researchers are evaluating advanced surgical simulation techniques for correcting complex skeletal deformities and abnormalities in children, adolescents, and young adults with musculoskeletal disorders. These conditions often involve rare and severe abnormalities in bone, joint, and muscle-tendon development, affecting multiple limbs and presenting challenges in standardizing treatment and predicting outcomes. The study focuses on improving surgical planning and support tools using 3D modeling and printing technologies, aiming to enhance precision, safety, and reproducibility of surgeries. The study involves surgeries to correct bone deformities, supported by preoperative virtual surgical planning and the use of patient-specific instruments created through 3D printing. These include Patient-Specific Instruments PSI and Graft-Specific Instruments GSI, which are designed to improve surgical accuracy. The research is conducted within specialized 3D laboratories at the Musculoskeletal Apparatus Network centers, where surgical simulations and planning procedures are systematically organized and standardized. Participants will undergo assessments including radiological follow-up and clinical-functional evaluations at the time of surgery and after one year. Researchers will measure outcomes such as the degree of skeletal correction achieved, operating room times, fluoroscopy times, blood loss, and any intra- or peri-operative complications. The suitability of the patient-specific instruments and bone grafts will also be evaluated. The study aims to improve surgical quality and efficiency while monitoring participants throughout a one-year period post-surgery.

Researchers are evaluating an artificial intelligence AI-based skeletal recognition system designed to support real-time, interactive rehabilitation exercise programs for breast cancer survivors experiencing musculoskeletal symptoms related to endocrine therapy. This trial focuses on symptoms caused by aromatase inhibitors, such as joint pain, stiffness, and muscle weakness, which can significantly impact quality of life. The study aims to develop a home-based AI-assisted rehabilitation program tailored to improve exercise adherence and alleviate these symptoms. Participants in the intervention group will follow a home-based exercise program alongside standard rehabilitation guidance, including education on endocrine therapy-related bone and joint symptoms, psychological support, and health education. The exercise program includes aerobic warm-up routines and functional training 3 to 5 times per week, with sessions lasting 15 to 30 minutes at a moderate intensity level. The control group will receive no additional intervention beyond standard care. During the 12-week treatment period, researchers will assess outcomes such as grip strength, joint function using M-SACRAH and WOMAC scales, and range of motion. Secondary measures include symptom severity, inflammation markers, vitamin D levels, bone mineral density, and genetic markers at baseline and after 3 months. Participants will be monitored for changes in musculoskeletal symptoms and overall physical function to evaluate the programs impact.

Researchers are developing and managing the AnovaOS Network Powered Patient Registry to collect real-world patient data across various diseases globally. This registry aims to capture meaningful clinical information on diagnosis, infection course, treatments, and outcomes to enhance understanding and support future clinical trials and observational studies. The registry serves as a resource to better understand, prevent, diagnose, and treat diverse health conditions. Participants data will be gathered through this registry, which can also be used to recruit individuals for clinical trials and observational studies on promising therapies. The registry collects ongoing information on patients health status and treatments, enabling long-term monitoring and analysis. This observational study does not involve administering treatments but focuses on data collection and management. Participants will provide information through questionnaires or instruments, either personally or via an informed proxy, with an expected follow-up once per year. The research team will assess natural history, clinical effectiveness, safety, and quality of care over a period of five years. The registry includes patients with a wide range of conditions, and participation requires informed consent and the ability to complete follow-up data collection.