Clinical Research Directory

Study to Evaluate Efficacy and Safety of Romosozumab Compared With Bisphosphonates in Children and Adolescents With Osteogenesis Imperfecta

The primary objective of this study is to evaluate the effect of romosozumab treatment for 12-months compared with bisphosphonate(s) on the number of clinical fractures at 12-months; the number of any fractures at 12-months and change in lumbar spine bone mineral density (BMD) Z-score at 6-months.

Pediatric Safety Follow-up Study of Prior Treatment With Romosozumab for Osteogenesis Imperfecta

The primary objective of this trial is to evaluate the safety of romosozumab in participants with osteogenesis imperfecta (OI) that have completed Study 20200105, regardless of whether they received investigational product (romosozumab) until the last protocol-specified dose or ended investigational product early.

Setrusumab in Pediatric Japanese Subjects With Osteogenesis Imperfecta

The primary objective of the study is to evaluate the effect of setrusumab on reduction in fracture rate, including morphometric vertebral fractures.

Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708

Osteogenesis imperfecta (OI) is a group of congenital and heritable bone disorders that currently affects at least 50,000 people in the United States. OI varies in severity from perinatally lethal to mild forms. The majority of cases is caused by a dominant mutation in type I collagen genes (COL1α1 and COL1α2), altering the quantity or quality of type I collagen. Although OI is typically characterized as a disease of the bone, it is perhaps more accurately described as a connective tissue disorder. Type I collagen is a major constituent of lung connective tissue. Respiratory insufficiency is the leading cause of death in patients with OI. Thus, it is important and necessary to understand the etiology of the restrictive pulmonary physiology in the OI population.

Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis Imperfecta

The primary objective of the study is to evaluate the effect of setrusumab vs intravenous bisphosphonates (IV-BP) on reduction in fracture rate, including morphometric vertebral fractures in pediatric participants.

Setrusumab vs Placebo for Osteogenesis Imperfecta

The primary objectives of the study are to identify a setrusumab dosing strategy in participants with OI and to evaluate the effect of setrusumab vs placebo on reduction in fracture rate.

REMS25: Study on the Use of REMS Technology in Diseases Commonly Associated With Reduced Bone Mineral Density (BMD)

This study evaluates bone mineral density (BMD) in pediatric patients aged 5-18 years with conditions negatively affecting bone health, using REMS (Radiofrequency Echographic Multi Spectrometry), a non-invasive and radiation-free ultrasound technology. Bone health is crucial during childhood, when peak bone mass develops, and reduced BMD is associated with increased fracture risk. DXA is the current reference method but has limitations in children, including radiation exposure and growth-related measurement issues. REMS has been validated in adults and shows promise in pediatrics, despite the lack of reference values. The study is a single-center, national, non-profit interventional study lasting about 12 months. Participants will undergo REMS BMD measurement, clinical history collection, and assessment of anthropometric and pubertal parameters, with prior DXA data collected when available. The primary aim is to describe BMD values measured by REMS in pediatric osteoporosis, with secondary aims including subgroup analyses and comparison with DXA. A sample of 100 patients is planned. Statistical analyses will assess BMD distributions, correlations with clinical variables, and agreement between REMS and DXA using correlation coefficients and Bland-Altman analysis.

Dental Malocclusion and Craniofacial Development in OI

Osteogenesis imperfecta (OI) is a rare inherited disorder that causes bones to break easily. Individuals with osteogenesis imperfecta break bones often and may have other problems, including hearing loss and pain and difficulty getting around. People with moderate to severe OI may also be diagnosed with dentinogenesis imperfecta (DI). DI is characterized by grey or brown teeth that may chip and wear down and break easily. People with DI may also have skull and neck defects. These patients may have severe teeth misalignment resulting in clinically significant chewing problems. Teeth misalignment in OI is very hard to treat because of the quality and quantity of bone. The overall goal of this study is to improve dental health to improve the quality of life of people with OI.

Prospective Observational Cohort Study of Cardiac Structure and Function in Children and Adults With Osteogenesis Imperfecta

This prospective observational investigation will examine the incidence and progression of cardiologic findings in individuals with OI across different age groups. Cardiopulmonary complications are recognized as major contributors to morbidity and mortality in adults with OI, although life expectancy has significantly improved in recent years due to medical advancements. By systematically evaluating cardiovascular involvement in this population, the study aims to generate clinically relevant evidence to inform early cardiologic screening strategies and support the development of harmonized and targeted management approaches, ultimately improving clinical practice and the quality of life of individuals living with OI.

Effects of Bisphosphonates on OI-Related Hearing Loss

Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in their 20s. Bisphosphonates have been successfully used to treat otosclerosis, a common cause of hearing loss similar to OI-related hearing loss. As many individuals with OI-related hearing loss also present with otosclerosis and because of their mechanistic similarities, the investigators propose studying the effects of bisphosphonate treatment on individuals diagnosed with both OI type I and hearing loss, thereby determining its effectiveness as a potential treatment for hearing loss. The investigators will enroll 50 individuals diagnosed with type I OI and age 18-100. 25 adults will be enrolled into the treatment arm and receive bisphosphonate treatment (must have at least mild hearing loss), while 25 adults will be enrolled into the control arm. The investigators will enroll 25 children (6-17 years of age) diagnosed with OI who are currently receiving bisphosphonate treatment as part of their care for orthopedic symptoms. The investigators will also observe 25 children (6-17 years of age) diagnosed with OI who are NOT currently receiving bisphosphonate treatment. The study duration is 63 months (approximately 5 years). Enrollment is anticipated to begin in November 2019.

Clear Aligners for the Treatment of Dental Malocclusion in OI

Misalignment of teeth and jaws (also called malocclusion) is a common life altering problem facing many individuals with Osteogenesis Imperfecta (OI). The presence of Dentinogenesis Imperfecta in teeth of OI individuals makes the use of conventional orthodontics in the form of braces very challenging. Clear aligners are newer form of orthodontic treatment and is less invasive than braces. Therefore, the aim of our study is to evaluate the efficiency and safety of using Invisalign clear aligners for orthodontic treatment in individuals with Osteogenesis Imperfecta. We seek individual with Osteogenesis Imperfecta, with mild to moderate malocclusion and no prior history of orthodontic treatment. This study will be held at three sites - McGill University, University of California Los Angeles and National Institute of Dental and Craniofacial research. This study will for the first time, help define guidelines for safe and efficient orthodontic treatment using clear aligners in individuals with Osteogenesis Imperfecta. If successful, this approach can rapidly be implemented into clinical practice, as the Invisalign system is readily available to orthodontists.

Urinary Biomarkers of OI Pathobiology

Osteogenesis imperfecta (OI) is a rare inherited disorder that causes bones to break easily. Individuals with osteogenesis imperfecta break bones often and may have other problems, including hearing loss, dental problems, pain and difficulty getting around. Before the genetic cause of OI was known, OI was classified into four types. Each type was based upon the symptoms and severity of OI. In most people with OI, the cause is a change in one of the genes that makes a protein called type 1 collagen. Some doctors now classify OI both on how severe it is as well as which gene is causing OI. When people classify OI this way, there are more than 10 types of OI. The current laboratory testing to determine OI subtype involves the collection of blood and/or skin cells.

Registry of Osteogenesis Imperfecta

ROI is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc. This approach has been developed to corroborate and integrate data from different sources evaluating several aspects of diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology. Due to legal requirements, institutional directives and organizational issues, we are unable to include individuals residing outside Italy in the registry at this time. We are currently engaged in the preparation of a recruitment process for individuals residing outside Italy.

Mesenchymal Cell Therapy in Osteogenesis Imperfecta (OI)

This is a Phase 1/2 study to determine the safety and efficacy of allogeneic (third party), bone-marrow derived mesenchymal stromal cells (MSCs) for the treatment of Osteogenesis Imperfecta (OI) Type 3. It will evaluate this by looking at whether there are treatment related infusion reactions, and assessing linear growth rates and bone health, both of which are impaired in patients ages 3-10 with Osteogenesis Imperfecta Type 3. This is a single-site non-randomized clinical trial, that will take place at Children's Healthcare of Atlanta (CHOA) at Egleston and Emory Children's Center.

Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital

To identify the most common underlying causes of non-inflammatory arthropathy in children presenting to Assiut University Children Hospital for through clinical evaluation, laboratory testing, and imaging, in order to improve diagnostic precision, guide appropriate management, and distinguish these conditions from inflammatory joint diseases.

Audio-vestibular Evaluation of Children and Young Adults With Osteogenesis Imperfecta

The aim is to determine whether vestibular deficits are present in OI, then to establish whether a correlation exists between genetic type, severity of OI and audiovestibular phenotype. OI patients aged 12 to 20 years will undergo an audiometric, immittance, and vestibular assessment. When hearing loss is conductive or mixed or in cases where vestibular deficits are identified, a CT scan without injection will be performed. In case of sensorineural hearing loss or abnormal CT results, an MRI will be performed.

Boost Brittle Bones Before Birth

An exploratory, open label, multiple dose, multicentre phase I/II trial evaluating safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe Osteogenesis Imperfecta compared with a combination of historical and untreated prospective controls.

BBD Longitudinal Study of Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) is a rare disorder of increased bone fragility characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. The clinical features of OI represent a continuum varying from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal lifespan. Fractures can occur in any bone, but are most common in the extremities. These disorders can be devastating and progressive and result in deformity, chronic pain, impaired function and loss of quality of life. The overall goal of this study is to answer specific question about the natural history of brittle bone diseases as defined by molecular etiology and to develop the foundation for prospective clinical studies.

Increasing Knowledge on Osteogenesis Imperfecta by Collecting Epidemiological Data

interventional pilot study with the enrollment of patients affected by Osteogenesis Imperfecta

Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Osteogenesis Imperfecta

This research study aims to evaluate the effect of a 6-month adapted physical activity program (APA) on the endurance capacities (evaluated as the maximum oxygen consumption \[VO2 peak\]) of children and adolescents with Osteogenesis Imperfecta.

Site Preservation After Tooth Extraction

This study is mainly targeted affected teeth which could not be retained, and patients are willing to undergo implant repair at the later stage. After teeth extraction, Geistlich Bio-Oss ® Particles or Bio-Oss ® Collagen are immediately implanted in the teeth extraction socket and covered with Bio-Gide ® collagen membrane for site preservation.Through postoperative follow-up, postoperative clinical and imaging objective indicators, combined with the subjective evaluation of surgeons and patients, and compared with conventional extraction treatment method, the study is aimed to evaluate the effectiveness of different site preservation of alveolar crest preservation, in order to reduce the alveolar bone width and height loss, effectively reduce alveolar bone absorption, or even achieve bone incrementation, thus to get the ideal site preservation effect, to improve the oral implant success rate, improve implant aesthetic score and patient satisfaction, provide more clinical standard reference of the clinical application of site preservation.