Osteosclerosis

Brain calcification is a common finding seen in various conditions including metabolic, neurological, developmental disorders, infectious diseases, trauma, toxic exposures, and also in normal aging. Researchers aim to better understand the clinical and genetic features of brain calcification by following a group of people with this condition over time. This observational study is designed to gather long-term information about brain calcification and its hereditary aspects. Participants include patients who have brain calcium deposits confirmed by CT scans, their relatives, and unrelated healthy individuals. The study involves observing and collecting data without any treatment intervention. The cohort will be followed for up to 20 years to monitor the occurrence and characteristics of hereditary brain calcification. During the study, participants will undergo assessments including CT scans to measure calcification levels and regular follow-ups to track changes. Researchers will record the incidence of hereditary brain calcification and gather clinical and genetic data. The study also involves obtaining informed consent and ensuring participants adhere to scheduled visits and procedures throughout the observation period.

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 investigating the relationship between calcification characteristics seen on Computed Tomography Coronary Angiography CTCA and the outcomes of Percutaneous Coronary Intervention PCI in patients with chronic total occlusion CTO of the coronary artery. This observational study focuses on patients who underwent CTO PCI attempts and had CTCA scans at the study center within the last five years. The study aims to understand how calcification affects the success of PCI procedures and the use of calcium modification tools. The study involves reviewing medical records and imaging of patients who had both CTO PCI attempts and CTCA. Characteristics of calcification such as location, density measured in Hounsfield units, and quantity in the CTO will be analyzed and correlated with PCI success or failure. The study will also assess how calcium modification tools were used during PCI and their relationship to the severity of calcification. Statistical analyses will compare demographic and procedural data with calcification features and PCI outcomes. Participants will have their CTCA images and PCI reports reviewed retrospectively after providing consent through mailed forms. Researchers will analyze baseline patient data, calcification details, and procedural results. The main outcome measure is the correlation between calcification characteristics and PCI success or failure within 24 hours. Secondary measures include evaluating the role of calcium modifying tools relative to calcification severity. Participation involves no new treatment or intervention and is based on existing clinical data collected over the past five years.

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 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.

Craniometaphyseal Dysplasia CMD is a rare bone disorder primarily affecting the bones of the head and long bones, characterized by progressive bone growth in the face and head and widening of the ends of long bones. This research aims to identify genetic changes and regulatory elements that cause CMD, study blood and tissue samples from patients, and understand the biological processes behind the disorder. The long-term goal is to find ways to slow down abnormal bone growth in people with CMD. The study does not involve treatments but focuses on observing participants with CMD and their family members to gather genetic and molecular information. Blood and tissue samples are collected to analyze genetic mutations and cellular mechanisms related to CMD. The study includes affected individuals and unaffected family members to help distinguish CMD from related bone disorders. Participants will provide samples and undergo evaluations to help identify genetic causes of CMD. Researchers will analyze these samples to understand how CMD develops and progresses. The primary outcome measure is the identification of genetic elements responsible for CMD. Participation involves ongoing observation without treatment, and the study began in 2009 with plans extending through 2030.

Diseases affecting bone due to aging, such as osteoporosis and osteoarthritis, lead to reduced bone mass, strength, and joint health. Current non-surgical treatments mainly involve drugs that do not change the disease and often cause side effects. This research aims to better understand how bone cells work and affect bone health to find new treatment targets. The study will collect bone samples from patients undergoing various orthopedic surgeries to analyze bone biology, genetics, and environmental factors. Participants include patients having elective or urgent orthopedic surgeries like joint replacements, fracture repairs, or osteotomies. Bone tissue removed during surgery will be collected for analysis within four hours. Blood samples and questionnaires will also be collected shortly after surgery. The study uses advanced single-cell techniques to explore bone cell diversity and applies machine learning to analyze how genetic differences impact bone structure and quality. During the study, participants will provide surgical bone waste and blood samples within hours of their procedure. They will complete questionnaires within one week after surgery. Researchers will monitor bone and blood samples to identify molecular and genetic factors that influence bone health. The study plans to run over the next ten years, generating detailed data to help develop new therapies for bone diseases associated with aging.

Researchers are investigating rare skeletal disorders to better understand their causes and how they change over time. This study focuses on individuals with known or suspected skeletal conditions, including those with a history of pregnancy affected by skeletal findings, as well as healthy family members. The study aims to define genetic factors linked to these disorders and describe their natural history when enough data is collected. Participants can join the study either remotely or in person at a clinical center. Remote participants may submit medical records, blood and urine samples, photographs, and other materials. Those attending in person might undergo clinical exams, imaging scans like X-rays, genetic testing, and possibly biopsies. Some participants blood or tissue samples may be used to create special stem cells for laboratory research. During the study, participants provide medical information and biological samples and may have imaging and clinical assessments. Genetic counseling may be offered. Some participants might stay in the hospital briefly for extra testing. Photographs may document physical changes over time. Participation can continue indefinitely to allow ongoing data collection and monitoring of skeletal disorders.