Osteopetrosis

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 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 BoneMRI's 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 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.

Researchers are studying adults with rare and complex genetic syndromes that affect multiple body systems and often include intellectual disability. These patients typically receive specialized care from multiple specialists during childhood, but as medical advances have extended life expectancy, many are now living into adulthood. The study aims to understand the medical needs, comorbidities, medication use, and quality of life impacts for adults with these rare syndromes, addressing a gap in adult care and guidelines. This research involves a retrospective review of medical files, including medical history, laboratory results, additional tests, and records of physical and psychological complaints. There is no active treatment or intervention, as the study collects and analyzes existing data to gain insights about health issues and medication adaptations needed for these syndromes. Participants' medical records will be analyzed to evaluate the presence of physical health problems, laboratory values, physical and psychological complaints, and medication use over a one-year period. The study uses statistical software for analysis and aims to improve understanding of adult care needs for these rare genetic conditions. The study began in October 2018 and will continue through January 2030.

Researchers are studying the progression of rare genetic neurodegenerative disorders that affect the brain. This research aims to better understand how these diseases develop over time and to analyze the effects of different interventions. The study is observational and focuses on disorders such as MLD, Krabbe Disease, ALD, and many other rare conditions affecting the nervous system. Participants are observed without receiving experimental treatments. The study collects data from patients who are receiving standard care, including those who have undergone Hematopoietic Stem Cell Transplantation (HSCT) and those receiving palliative care. Evaluations by a multidisciplinary team occur regularly: every 3 months during the first year, every 6 months in the second year, and once a year thereafter. During these visits, researchers assess key developmental areas including cognitive, language, gross and fine motor skills, and adaptive living skills over a 15-year period. Brain neurodegeneration is monitored using MRI diffusion tensor imaging in patients from birth to 5 years old, while exploratory biomarkers are also collected. This long-term follow-up helps track disease course and intervention outcomes for up to 15 years.

Parathyroid disorders, which affect calcium-phosphate balance in the body, are common and include conditions of excess, deficiency, or signaling defects involving parathyroid hormone (PTH). This research aims to investigate the causes of these disorders, including genetic factors, and to understand their natural history and progression, especially in syndromic cases like multiple endocrine neoplasia and hyperparathyroidism-jaw tumor syndrome. Participants who have, are suspected of having, or are at risk for parathyroid or related disorders will receive standard care testing and treatment as needed. The study collects data including biospecimens such as saliva, blood, urine, stool, cheek cell samples, and for adults, possibly skin biopsies. Medical photos and leftover tissue from surgeries may also be collected. Visits can be in person or via telehealth and continue as long as participants receive care. During the study, participants will complete questionnaires about their physical, mental, and social health. Researchers will review medical records, perform clinical testing, and analyze collected samples to identify biomarkers and investigate disease mechanisms. The main outcomes include molecular profiling of biospecimens and exploring causes of parathyroid disorders over five years. Participants remain in the study while under medical care, with ongoing monitoring of their health and disease status.

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.