Paget's Disease of Bone

Researchers are evaluating the combination of Disitamab Vedotin and Toripalimab to treat advanced HER2-positive extramammary Paget disease of the scrotum. This phase II clinical trial aims to determine if this combination reduces tumor size and delays disease progression, while also studying the safety and medical problems that may occur during treatment. Participants will receive intravenous infusions of Disitamab Vedotin at 2mgkg and Toripalimab at 3mgkg every 3 weeks. Treatment continues until the disease progresses, intolerable side effects occur, or other specified reasons arise. The study includes regular clinical tumor imaging and lesion measurements during treatment. Participants visit the clinic every 3 weeks for checkups and tests, including assessments of tumor response using RECIST criteria. The main outcome measured is the objective response rate every 6 weeks for up to 24 weeks. Secondary outcomes include progression-free survival and adverse events monitored over an average of 2 years. Follow-up continues until disease progression, withdrawal, loss to follow-up, or death.

Researchers are studying men with metastatic castration-sensitive prostate cancer to see if taking oral acetate can increase the amount of a gut bacterium called Akkermansia muciniphila. The trial aims to confirm this increase compared to standard care and to assess how well patients tolerate oral acetate. The study also explores whether higher levels of this bacterium relate to better metabolic health and bone strength. This is an early phase 1 clinical trial sponsored by Western University. Participants are randomly assigned to one of two groups. One group takes an apple cider vinegar caplet daily, containing 143 mg with 36% acetic acid, for three months. The other group receives standard care without supplementation. The study includes follow-up periods lasting up to six months to monitor changes and side effects. Throughout the study, stool samples will be collected at multiple time points to measure Akkermansia muciniphila levels. Researchers will also evaluate various metabolic markers such as blood sugar, cholesterol, and insulin resistance, plus bone health indicators. Side effects and tolerability will be checked after three months. Participants are monitored over six months to assess both primary and secondary outcomes related to metabolism and bone health.

Researchers are exploring the genetic causes of muscle diseases, especially those occurring alongside inherited bone disorders. This observational study aims to better understand how muscle and bone diseases that run in families affect tissue function and metabolism over time. The research uses a non-invasive technology called Diffuse Optical Spectroscopy to study these tissue changes. Diffuse Optical Spectroscopy is a quick and painless device developed at the University of California, Irvine. It measures concentrations of blood, water, and fats in tissues by shining infrared light on the skin using a probe placed on areas such as the calf, bicep, or head. The probe is held in place gently by hand or secured with medically approved wraps or tapes, leaving small marks on the skin to ensure consistent placement during repeated measurements. The technique involves no radiation and may include placing a detector directly on the skin in some cases. Participants will have the spectroscopy probe applied to specific body areas to gather data on tissue physiology. The study monitors muscle disease over a one-week period using these measurements. The process is safe, with no radiation exposure, and does not involve treatment but focuses on observation. Participation involves a series of painless measurements and may include family members with muscle or bone disorders. The total study duration and follow-up depend on individual circumstances.

Researchers are studying families affected by inherited inclusion body myopathy IBM, Paget disease of bone PDB, and frontotemporal dementia FTD, conditions linked to changes in the VCP gene. The goal is to understand how mutations in this gene lead to muscle, bone, and cognitive problems seen in IBMPFD. This observational study involves adults with personal or family histories of these conditions or related muscle and bone disorders. Participants provide biological samples like blood and urine, share family and medical histories, and complete questionnaires about their health. Some participants may be invited to visit the University of California, Irvine, for a two-day program including local procedures such as MRI and bone scans. Travel is only required for those selected for additional testing. Throughout the study, samples are coded to protect participant privacy. The research team collects data to better understand the diseases impact on muscle, bone, and brain function. Participation involves sharing medical information and possibly undergoing imaging tests during the study period, which continues through December 2030.

Researchers are evaluating BoneMRI, a new 3D MRI technique developed by MRIGuidance BV, which creates CT-like images to visualize bone structure and morphology in the spine. This study aims to validate BoneMRIs accuracy in showing spinal bone details, focusing on how well it measures radiodensity and 3D shape across different hospital scanners and MRI machines. The goal is to improve diagnosis and treatment planning while reducing exposure to ionizing radiation. The study involves patients who are referred for both MRI and CT scans of the spine due to suspected bone-related spine disorders. Participants will have an additional MRI sequence taken using BoneMRI technology, alongside their routine scans. This prospective multi-center study expects to include 50 patients per center over 36 to 48 months. BoneMRI images will be compared to standard CT images to assess accuracy and reliability across various MRI configurations. During the study, participants will undergo routine clinical MRI and CT scans as part of their standard care, with the extra BoneMRI sequence added for research purposes. Researchers will measure how accurately BoneMRI reconstructs tissue radiodensity and 3D spinal morphology. There are no additional risks since BoneMRI images are not used in patient care decisions. The study may help reduce future patients radiation exposure if BoneMRI proves accurate enough to replace some CT scans.

Researchers are collecting biological and clinical data from patients with progressive bone, calcium, and growth plate diseases. The goal is to better understand the biological processes behind these conditions and to identify factors that predict disease progression and potential new treatment targets. This observational study is sponsored by University Hospital, Toulouse, and focuses on patients of all ages up to 99 years old with these pathologies. Participants will undergo regular clinical monitoring, including blood and urine tests. In cases where surgery is part of the treatment, surgical residues may also be collected and preserved. These biological samples and clinical data will be gathered over an average period of 5 years to build a comprehensive collection for ongoing research. Throughout the study, patients will have clinical and biological evaluations to provide data for research. The main measure is the building of this biological and clinical collection from day 0 through study completion. Researchers will also look for markers that may indicate disease progression based on new insights gained from the data. Participants will be monitored regularly as part of their routine care, and the study may last up to 5 years or more.

This research aims to evaluate the precision and reliability of three scanning devices the GE Lunar iDXA, Hologic Horizon W DXA, and the Stratec peripheral quantitative computed tomography pQCT scanner. The study focuses on measuring bone mineral content, bone geometry, and soft tissues in both inanimate objects and adults. It assesses variability in testing due to factors like day-to-day changes, technician differences, positioning, and different equipment, while also establishing the least significant change for these measurements and examining device strengths and limitations. Participants undergo precision testing using the DXA devices and pQCT scanner, which measure bone mineral density and body composition including fat mass and lean mass. The study uses standard protocols to scan regions prone to fractures or responsive to interventions. The pQCT provides 3D imaging to assess bone strength components separately. This testing helps ensure quality control and cross-calibration of scanners across sites. During the study, participants will have multiple scans performed to evaluate measurement reproducibility. Researchers will monitor scan precision and variability related to technicians and equipment. The primary outcomes include precision measurements and least significant change of bone mineral density and body composition within one month. The study spans multiple visits with no treatment administered, focusing on observation and data collection to build a database of test results and quality control procedures.

This research aims to compare new bone growth after sinus floor elevation surgery in patients needing dental implants. The study focuses on whether making multiple small holes perforations in the cortical bone layer of the sinus floor before placing augmenting material improves bone formation. The trial involves 12 patients who require sinus floor elevation on both sides of the mouth, allowing direct comparison within each patient. Participants will undergo a lateral window sinus floor elevation on both sides. One side will follow the standard procedure by filling the sinus with augmentation material without perforation. The other side will have several perforations made in the cortical bone layer before the augmentation material is inserted to enhance blood supply to the graft. Both sides will then heal for 4 to 6 months before dental implants are placed. During implant placement, a bone biopsy will be taken from the treated areas to assess new bone formation through histological analysis. The study includes randomized assignment of sides and double-blinding to ensure unbiased results. Participants will be monitored throughout the healing period, with the main outcome measured at 4 to 6 months after surgery to compare bone growth between the two procedures.

This research aims to better understand Extramammary Pagets Disease EMPD, focusing on women with vulvar or perianal Pagets disease. The study will collect tissue samples and swabs to explore the microorganisms microbiome living on or near affected skin areas. Researchers want to learn more about treatment outcomes and disease characteristics in this specific group. Participants will be identified during visits to the Dermatology or Gynecologic Surgery departments at Mayo Clinic. They will undergo cultures of skin, rectum, and vagina to analyze the microbiome. Women will follow a care pathway including dermatology consultations, preoperative genital sensory testing, and possibly Mohs micrographic surgery or excisional procedures by gynecologic surgery. Samples such as swabs, urine, and tissue will be collected before interventions for further analysis. During the study, participants will complete various sexual health and quality of life questionnaires. They will be monitored for outcomes including long-term survival over 25 years. The study collects data through physical exams, questionnaires, tissue sampling, and clinical follow-up. This observational registry aims to gather comprehensive information on EMPD in women, supporting better understanding and care.

Researchers are evaluating Ivonescimab, a PD-1VEGF bispecific antibody, for the treatment of multiple advanced rare tumors. This phase II, multi-cohort, and multi-center study includes 20 different tumor types such as Pagets disease of the scrotum, metastatic paraganglioma, sarcomas, renal carcinomas, prostate cancer, and tumors with brain metastases. The study aims to assess if Ivonescimab improves the objective response rate and prolongs survival, as well as to monitor safety and quality of life during treatment. Participants receive Ivonescimab at a dose of 20mgkg given by intravenous infusion every 21 days. Treatment continues until disease progression, unacceptable toxicity, or for a maximum of two years. Imaging evaluations are conducted every 9 weeks during the first year and every 12 weeks afterward. Dose delays up to 12 weeks are allowed under specific conditions, but dose reductions are not permitted. Participants undergo a screening period within 28 days before starting treatment. Safety follow-up visits occur 30 days after the last dose, including physical exams and lab tests. Afterward, survival follow-up is done every 3 months for up to one year through visits or phone calls. Researchers track tumor response, progression-free survival, overall survival, quality of life, and record any adverse events throughout the study.