Osteogenesis Imperfecta (Lobstein Disease)

COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.

Also Known As:

Lobstein Disease; Fragilitas Ossium; Brittle Bone Disease; Lobstein's Disease; Osteogenesis Imperfecta Tarda; Osteogenesis Imperfecta with Blue Sclerae; Osteogenesis Imperfecta, Type 1; Osteogenesis Imperfecta, Type I; Disease, Lobstein; Disease, Lobstein's; Lobsteins Disease; Ossiums, Fragilitas; Osteogenesis Imperfecta Tardas

Networked: 2193 relevant articles (65 outcomes, 173 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Osteoporosis
2.	Bone Fractures (Bone Fracture)
3.	Pain (Aches)
4.	Osteogenesis Imperfecta (Lobstein Disease)
5.	Metabolic Bone Diseases (Osteopenia)

Experts

1.	Rauch, Frank: 82 articles (01/2022 - 01/2002)
2.	Glorieux, Francis H: 61 articles (01/2022 - 01/2002)
3.	Marini, Joan C: 55 articles (01/2022 - 02/2003)
4.	Leikin, Sergey: 26 articles (01/2022 - 03/2003)
5.	Cabral, Wayne A: 24 articles (01/2020 - 03/2003)
6.	Byers, Peter H: 23 articles (10/2021 - 02/2004)
7.	Forlino, Antonella: 22 articles (01/2022 - 05/2004)
8.	Eyre, David R: 21 articles (03/2021 - 12/2006)
9.	Barnes, Aileen M: 19 articles (01/2022 - 12/2006)
10.	Lee, Brendan: 16 articles (01/2022 - 12/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Osteogenesis Imperfecta:

1.	Pamidronate (Aredia)FDA LinkGeneric 01/01/2010 - "Cyclic pamidronate administration is effective in improving bone mineralization and reducing fracture incidence in childhood osteogenesis imperfecta." 10/01/2002 - "Pamidronate seems useful in the treatment of osteogenesis imperfecta in children, since it increases BMD and reduces the fracture rate, in keeping with the findings from the larger series studied by Glorieux. " 11/01/2001 - "1 year cyclical pamidronate is effective and safe in improving bone mineralisation and reducing fracture incidence in osteogenesis imperfecta." 05/01/2001 - "Pamidronate seems to be useful in the treatment of patients with osteogenesis imperfecta." 05/01/2006 - "The aim of this study was to evaluate the efficacy of pamidronate in the management of osteogenesis imperfecta patients. "
2.	Diphosphonates (Bisphosphonates)IBA 01/01/2014 - "Bisphosphonates (BPs) are used most commonly in children with osteogenesis imperfecta, resulting in increased trabeculae and cortical thickness, increased bone density as measured by DXA (Dual Energy X-ray Absorptiometry), and improved vertebral morphology. " 02/01/2006 - "The results of the study showed that bisphosphonate treatment has positive effects in patients of type I and IV of osteogenesis imperfecta and is less effective in the type III of the diseases." 01/01/2021 - "Medical and surgical treatment of osteogenesis imperfecta has undergone two revolutions that improved quality of life and functional capacity: reduced bone absorption with the use of bisphosphonates, and improvement in internal fixation with the development of Dubow-Bailey then Fassier-Duval™ telescopic rodding. " 05/01/2016 - "Efficacy of Bisphosphonates on Bone Mineral Density and Fracture Rate in Patients With Osteogenesis Imperfecta: A Systematic Review and Meta-analysis." 09/01/2011 - "The efficacy of bisphosphonates has been validated in adults and for children with osteogenesis imperfecta (OI). "
3.	Zoledronic Acid (Zometa)FDA Link 06/20/2023 - "Zoledronic acid appeared to be well-tolerated and effective in the treatment of pediatric osteogenesis imperfecta." 05/01/2023 - "Zoledronic Acid Treatment in Infants and Toddlers with Osteogenesis Imperfecta is Safe and Effective: A Tertiary Care Centre Experience." 09/01/2022 - "Safety and Efficacy of Zoledronic Acid in children with Osteogenesis Imperfecta." 06/20/2023 - "Eligible articles were clinical trials and observational studies including pediatric patients (<16 years) with osteogenesis imperfecta treated with zoledronic acid. " 06/20/2023 - "We conducted a systematic literature review to evaluate the efficacy and safety of intravenous zoledronic acid in the treatment of osteogenesis imperfecta in pediatric patients. "
4.	Collagen Type I (Type I Collagen)IBA 01/01/2003 - "The deletion of the alpha2 chain from type I collagen in the oim mouse model of osteogenesis imperfecta has been shown to result in a significant reduction in the mechanical strength of the tail tendon and bone tissue. " 03/01/2012 - "[Studies of type I collagen (COL1A1) alpha1 chain in patients with osteogenesis imperfecta]." 04/01/2006 - "To study the gene mutation of collagen, type I, alpha 1 (COL1A1) associated with the clinical characterization of a Chinese family with type I osteogenesis imperfecta (OI). " 01/01/2003 - "Studies on type I collagen in skin fibroblasts cultured from twins with lethal osteogenesis imperfecta." 10/01/2000 - "In the current study, the potential of gene therapy for treating osteogenesis imperfecta is discussed in the context of the complexity of the mutations in Type I collagen genes that lead to different osteogenesis imperfecta phenotypes."
5.	Alendronate (Alendronate Sodium)FDA LinkGeneric 09/01/2005 - "The purpose of this study was to investigate the efficacy of oral alendronate for children with osteogenesis imperfecta. " 09/01/2005 - "Efficacy of oral alendronate in children with osteogenesis imperfecta." 02/01/2011 - "Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study." 02/01/2006 - "We carried out a 3-year, randomized, double-blind, placebo-controlled trial of oral alendronate in 64 adult patients with osteogenesis imperfecta. " 02/01/2006 - "This study evaluated the effect of oral alendronate on the BMD of adult patients with osteogenesis imperfecta. "
6.	6- amino- 1- hydroxyhexane- 1,1- diphosphonateIBA 01/01/2021 - "The study was aimed at monitoring vertebral bodies changes with the use of Vertebral Fracture Assessment (VFA) in children and adolescents affected by osteogenesis imperfecta (OI) during treatment with intravenous neridronate. " 10/01/2017 - "The present study assessed the long-term efficacy and safety of intravenous (i.v.) neridronate in children and adolescents affected by osteogenesis imperfecta (OI). " 10/01/2017 - "Treatment with neridronate in children and adolescents with osteogenesis imperfecta: Data from open-label, not controlled, three-year Italian study." 01/01/2017 - "The aim of this study was to assess the long-term efficacy and safety of i.v. neridronate in the treatment of osteogenesis imperfecta (OI). " 01/01/2017 - "Long-term Effects of Neridronate in Adults with Osteogenesis Imperfecta: An Observational Three-Year Italian Study."
7.	Calcitonin (Calcitonin, Eel)FDA LinkGeneric 06/01/1985 - "We concluded that, with the dose of human calcitonin used, it was impossible to detect any beneficial effect in patients with osteogenesis imperfecta." 06/01/1985 - "Lack of effects of human calcitonin in osteogenesis imperfecta." 10/01/1983 - "Salmon and porcine calcitonin has been used in the drug treatment of Osteogenesis Imperfecta for ten years. " 10/01/1983 - "[Osteogenesis imperfecta and calcitonin. " 01/01/1983 - "A 1 11/12-year-old girl with osteogenesis imperfecta was treated with porcine calcitonin. "
8.	romosozumabIBA 01/07/2022 - "The efficacy of romosozumab for severe osteoporosis is uncertain in patients with osteogenesis imperfecta (OI). " 01/07/2022 - "Efficacy of romosozumab for osteoporosis in a patient with osteogenesis imperfecta: A case report." 01/01/2022 - "Rationale: Sclerostin inhibition demonstrated bone anabolic potential in osteogenesis imperfecta (OI) mice, whereas humanized therapeutic sclerostin antibody romosozumab for postmenopausal osteoporosis imposed clinically severe cardiac ischemic events. " 11/01/2023 - "Osteoporosis Improved by Romosozumab Therapy in a Patient With Type I Osteogenesis Imperfecta."
9.	alpha2 Subunit Collagen Type IIBA 06/01/2021 - "This study investigated the characteristics of DI teeth associated with osteogenesis imperfecta (OI) and COL1A2 mutations. " 05/01/2021 - "This study describes the mutations in the main pathogenic genes, COL1A1 and COL1A2, and the clinical characteristics of osteogenesis imperfecta in China. " 03/01/2020 - "To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore COL1A1/COL1A2 mutations in 87 Chinese OI patients and to perform population-based studies of the relationships between their genotypes and phenotypes. " 07/10/2023 - "[Analysis of COL1A1 and COL1A2 gene variants in two fetuses with osteogenesis imperfecta]." 06/02/2023 - "The first objective of the present work was to further investigate the properties of tendons in the osteogenesis imperfecta mouse (oim), a model characterized by a mutation in the COL1A2 gene. "
10.	MineralsIBA 04/01/2021 - "Using the example of osteogenesis imperfecta (OI), the current article describes how biopsy samples can be further used to study bone material characteristics including the degree of matrix mineralization, organic matrix properties, mineral particle size and bone nanoporosity. " 01/01/2000 - "A fourier transform infrared spectroscopic and solid-state NMR study of bone mineral in osteogenesis imperfecta." 02/01/1995 - "An electron probe X-ray microanalytical study of bone mineral in osteogenesis imperfecta." 07/01/1993 - "A microanalytical study of bone mineral in a transgenic mouse model for brittle bone disease." 01/01/2023 - "Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study."

Therapies and Procedures

1.	Therapeutics 12/01/2021 - "A systematic review and meta-analysis on the efficacy of stem cell therapy on bone brittleness in mouse models of osteogenesis imperfecta." 05/21/2022 - "This study demonstrates the diverse needs of the adult Osteogenesis Imperfecta population and the need for suitable multidisciplinary therapy services." 05/21/2022 - "We designed this analysis to better understand the musculoskeletal disorders and consequent therapy needs for adults with Osteogenesis Imperfecta. METHODS: This study was a cross-sectional analysis of outpatients with Osteogenesis Imperfecta. " 12/10/2021 - "This study demonstrates specific contributions of mesenchymal cell lineages to Col1 production in organogenesis, skeletal development, and bone formation/repair, with potential insights into cell-based therapy for patients with Osteogenesis Imperfecta." 06/16/2023 - "Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta."
2.	Transplantation 01/01/2012 - "We previously showed that prenatal transplantation of human first trimester fetal blood mesenchymal stem cells (hfMSCs) in a mouse model of osteogenesis imperfecta (oim mice) led to a phenotypic improvement, with a marked decrease in fracture rate. " 01/20/2011 - "Transplantation of human fetal blood stem cells in the osteogenesis imperfecta mouse leads to improvement in multiscale tissue properties." 01/01/2020 - "Engraftment of skeletal progenitor cells by bone-directed transplantation improves osteogenesis imperfecta murine bone phenotype." 01/01/2019 - "Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta." 09/01/2014 - "Local transplantation is an effective method for cell delivery in the osteogenesis imperfecta murine model."
3.	Stapes Surgery (Stapedectomy) 12/01/2021 - "To evaluate short and long term results of stapes surgery in patients with osteogenesis imperfecta (OI), METHODS: Retrospective case series of 18 primary stapes surgeries performed on 11 hearing-impaired OI patients with evidence of stapes fixation, in a Tertiary referral center. " 12/01/2021 - "Stapes surgery in osteogenesis imperfecta: retrospective analysis of 18 operated ears." 12/01/2014 - "Stapes surgery is a feasible and safe treatment option in patients with osteogenesis imperfecta. " 12/01/2014 - "To prospectively evaluate hearing outcomes in patients with osteogenesis imperfecta undergoing primary stapes surgery and to isolate prognostic factors for success. " 01/01/2012 - "Intraoperative findings of stapes surgery in 34 ears from 22 patients with genetically confirmed osteogenesis imperfecta (OI) are reported, as well as the audiometric results after the longest postoperative follow-up published to date. "
4.	Physical Therapy Modalities (Physical Therapy Technique) 01/01/2022 - "Research into alternative methods for patellar fixation and postoperative physical therapy protocols for patients with osteogenesis imperfecta is needed. " 01/01/2017 - "General care of adults with osteogenesis imperfecta involves measures to preserve bone density, regular monitoring of hearing and dentition, and maintenance of muscle strength through physical therapy. " 10/01/2010 - "It is often called "brittle bone disease." Treatment consists of physical therapy, surgical interventions, medications and, in some cases, experimental therapies. " 12/01/2013 - "The aim of this study was to describe physical activity, quality of and satisfaction with life, pain, joint mobility and muscle function in adults with mild-to-moderate osteogenesis imperfecta (OI) to form the basis of improved clinical care and physical therapy treatment. " 01/15/1993 - "Children with osteogenesis imperfecta (OI) that results in considerable deformity are often viewed as poor candidates for aggressive physical therapy and rehabilitation. "
5.	External Fixators 01/01/2012 - "In Lobstein's disease, good results can be obtained by the use of an Ilizarov external fixator. " 11/01/2020 - "The combination of telescopic system with an external fixator in patients with osteogenesis imperfecta (OI) demonstrated advantages of stability, early weight-bearing and rehabilitation. " 05/01/1991 - "A case of osteogenesis imperfecta, presenting with bowed deformity of both forearm bones and dislocation of the radial head was treated by separate elongation of both bones using Ilizarov's external fixator." 01/01/2023 - "This study demonstrates results of simultaneous application of external fixator, and telescopic rod for femoral lengthening and deformity correction in three children with osteogenesis imperfecta or severe form of Ollier's disease. "