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 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 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 evaluating FT024 gene-modified stem cell therapy in children aged 28 days to 2 years who have autosomal recessive osteopetrosis caused by TCIRG1 gene mutations. This phase IIIa open label study aims to assess the safety, feasibility, and effectiveness of this treatment in up to 8 children. The trial is conducted at a specialized pediatric center in Italy and includes participants who meet specific genetic and clinical criteria for this rare bone disorder. Participants undergo harvesting of their own hematopoietic stem and progenitor cells HSPCs, which are modified with the FT024 lentiviral vector to correct the genetic defect. After manufacturing in a GMP facility, patients receive a reduced toxicity conditioning regimen using Treosulfan and Thiotepa, followed by intravenous infusion of FT024. If needed, additional FT024 boost doses may be given within 180 days without further conditioning. Regular follow-up continues for 2 years, with an option for extended long-term monitoring up to 15 years. During the study, participants will have about 10 visits including assessments, hospital stays, and possible remote visits depending on their needs. Researchers will monitor overall survival, long-term engraftment, hematologic recovery, adverse events, and quality of life measures. The study lasts around 30 months per patient and includes detailed evaluations of blood parameters, transfusion needs, and genetic markers to understand the treatments impact. Safety and efficacy data will guide future development of this gene therapy.

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.

Researchers are studying parathyroid disorders, which involve problems with parathyroid hormone affecting calcium and phosphate balance in the body. The study aims to investigate the causes, including genetic factors, and to understand how these disorders develop and change over time, especially in syndromic cases like multiple endocrine neoplasia and hyperparathyroidism-jaw tumor syndrome. Participants with confirmed, suspected, or risk factors for parathyroid or related disorders will receive standard medical care and testing. Samples such as saliva, blood, urine, stool, cheek cells, and sometimes skin biopsies may be collected for research. Medical photos and leftover tissue from surgeries may also be obtained. Care and visits may happen in person or via telehealth. During the study, participants will undergo medical evaluations, complete questionnaires about their physical, mental, and social health, and provide various biological samples. Researchers will study biomarkers and molecular profiles over up to five years to learn about the disease cause and progression. Participants remain in the study as long as they receive care from their doctors, with monitoring of clinical and molecular outcomes.