Osteogenesis Imperfecta

Researchers are evaluating the effects of a 6-month adapted physical activity program on the endurance of children and adolescents aged 7 to 18 with Osteogenesis Imperfecta OI, a rare genetic condition causing fragile bones and muscle weakness. The study aims to see if this exercise program can improve maximum oxygen consumption VO2 peak, endurance, and quality of life by addressing common symptoms such as chronic fatigue and decreased physical function. The intervention involves a personalized training program tailored to each participants condition and abilities. Assessments will take place over two visits spaced six months apart at the Constitutional Bone Diseases unit. The adapted physical activity program will be shared with participants and their families via videoconference, with regular adjustments made every 15 days through phone calls by an APA coach to support ongoing participation. Participants will undergo evaluations including endurance testing, quality of life questionnaires, step counts, and weight measurements at the start and after six months. Researchers will monitor changes in maximum endurance capacity and other health indicators. The study provides ongoing support and reassessment to help maintain engagement and track progress throughout the six-month period.

Researchers are evaluating methods to accurately restore the joint line position during Total Knee Arthroplasty TKA in patients with severe varus deformity due to Type M gonarthrosis, a form of advanced knee osteoarthritis. This is important because proper joint line restoration affects knee function, pain, implant wear, and overall patient satisfaction. The study compares patients with two types of gonarthrosis deformities to find the best technique for determining the joint line using preoperative and intraoperative measurements, focusing particularly on the adductor ratio method. The study involves patients undergoing cemented bicondylar posterior cruciate ligament PCL substituting total knee replacement. Two patient groups include those with intraarticular varus deformity and those with metaphyseal varus deformity, both having severe osteoarthritis. Researchers will observe and measure anatomical landmarks during surgery and on radiographs before and after the procedure. This includes measuring the distance between specific bone landmarks and the joint line to assess which method most reliably determines the joint line position. Participants will undergo preoperative radiological assessments and intraoperative caliper measurements followed by postoperative X-rays over two years. Functional outcomes will be evaluated using the Hospital for Special Surgery HSS knee score before surgery and at one year after. The primary measurement is the accuracy of joint line determination by the adductor ratio compared to other techniques. This observational study aims to improve surgical planning and outcomes in complex knee replacement cases with severe deformity.

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 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 whether vestibular problems occur in people aged 12 to 20 with Osteogenesis Imperfecta OI, a genetic bone disorder also linked to hearing loss. They aim to find if theres a relationship between the type and severity of OI and specific hearing and balance issues. The study involves detailed hearing and balance tests to better understand these connections and to explore bone changes seen on imaging scans. Participants will undergo several hearing tests including audiometry and immittance assessments, along with vestibular evaluations such as videonystagmography, video Head Impulse Test, and vestibular evoked muscular potentials. If hearing loss or vestibular deficits are found, patients will have a CT scan of the ear bones. Those with sensorineural hearing loss or abnormal CT results will be offered an MRI to further assess inner ear and nerve structures. During the study, participants will complete these tests as part of their annual medical visit, with results tracked over 24 months. Researchers will measure various vestibular functions and hearing abilities, as well as assess the severity of OI and bone changes on imaging. This comprehensive evaluation aims to clarify the connection between OI and balance or hearing problems while monitoring patients health over two years.

Osteogenesis Imperfecta OI is a rare condition causing fragile bones that break easily, along with dental problems and hearing loss in adults. It affects people of all genders and races, with symptoms ranging from severe deformities and mobility issues to mild cases with few fractures. This research studies the natural history of OI by following a large group of people over time to better understand how the disease progresses and varies by genetic cause. This observational study will follow up to 1000 participants with OI for up to five years. Participants aged 17 and younger will visit the study center every year, while adults 18 and older will come every other year. During visits, researchers will collect medical history, evaluate scoliosis and walking ability, assess dental health, and perform physical exams, lung function, hearing, and mobility tests. Imaging such as DEXA scans and X-rays of the spine and jaw will be taken, along with urine and blood samples. Participants will be monitored through yearly or biennial visits depending on age, completing questionnaires about quality of life and physical function. The study aims to track outcomes such as scoliosis development, vertebral fractures, oral health, and pregnancy effects in women with OI. Safety and progression of the disease will be followed for up to ten years, providing valuable long-term data on this rare bone disorder.

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.

Researchers are studying enamel defects that include hypomineralization and hypoplasia, focusing on three common dental conditions Molar Incisor Hypomineralization MIH, dental fluorosis, and amelogenesis imperfecta. The study aims to evaluate the use of a spectrophotometer, the Zfx SpectroShade, to measure tooth color as a non-invasive tool for early diagnosis of these enamel abnormalities. Additionally, biological, structural, and physicochemical characteristics of these enamel pathologies will be analyzed from extracted teeth or enamel biopsies. The study involves two main visits. At the first visit, participants undergo a screening consultation where photographs and spectrophotometer images of at least two teeth are taken. At a follow-up visit within two months, patients requiring dental treatment will have selected teeth extracted or restored, allowing collection of samples for detailed laboratory analysis. These analyses include protein studies, electron microscopy, and various spectroscopic and elemental techniques performed at specialized laboratories. Participants will be monitored with careful documentation and follow-up, including consent and non-opposition forms, especially for minors. Researchers will analyze color parameters of affected teeth using the spectrophotometer and compare these across different enamel disorders. The study also collects extensive data on the biological and physical makeup of enamel abnormalities to support accurate diagnosis and characterization. Samples will be stored securely for up to ten years for possible future research. The total participation involves initial imaging and a follow-up dental procedure within two months.