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:

Networked: 1436 relevant articles (29 outcomes, 112 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Bone Fractures (Bone Fracture)
2.	Otosclerosis
3.	Postmenopausal Osteoporosis
4.	Cerebral Palsy (Spastic Diplegia)
5.	Myocardial Infarction

Experts

1.	Rauch, Frank: 50 articles (12/2015 - 11/2002)
2.	Glorieux, Francis H: 48 articles (10/2015 - 11/2002)
3.	Marini, Joan C: 36 articles (02/2015 - 02/2003)
4.	Cabral, Wayne A: 19 articles (02/2015 - 03/2003)
5.	Leikin, Sergey: 17 articles (10/2014 - 03/2003)
6.	Byers, Peter H: 16 articles (07/2015 - 02/2004)
7.	Barnes, Aileen M: 14 articles (02/2015 - 12/2006)
8.	Eyre, David R: 13 articles (06/2014 - 12/2006)
9.	Schwarze, Ulrike: 12 articles (07/2015 - 02/2004)
10.	Makareeva, Elena: 10 articles (10/2014 - 03/2003)

Drugs and Biologics

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

1.	pamidronate (APD)FDA LinkGeneric 01/01/2006 - "Intravenous treatment with pamidronate is beneficial in children and adolescents with moderate to severe forms of osteogenesis imperfecta (OI) types I, III and IV, but there is little information on the effects of this treatment on the newly described OI type V. Here, we describe the results of 2 years of pamidronate treatment in 11 children and adolescents with OI type V (age at start of therapy 1.8 to 15.0 years; 6 girls). " 11/01/2002 - "Recent non-placebo-controlled studies of the bisphosphonate pamidronate have shown it to be effective in reducing fractures and improving bone density in infants and children with osteogenesis imperfecta (OI). " 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."
2.	DiphosphonatesIBA 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. " 09/01/2011 - "The efficacy of bisphosphonates has been validated in adults and for children with osteogenesis imperfecta (OI). " 05/01/2015 - "We searched Medline, Embase, and the Cochrane Central Register of Controlled Trials in which the effects of bisphosphonates on fracture risk in osteogenesis imperfecta were compared with placebo and conducted a meta-analysis of these studies using standard methods. " 05/01/2015 - "Bisphosphonates for the prevention of fractures in osteogenesis imperfecta: meta-analysis of placebo-controlled trials." 01/01/2014 - "Randomised and quasi-randomised controlled trials comparing bisphosphonates to placebo, no treatment, or comparator interventions in all types of osteogenesis imperfecta. "
3.	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]." 04/01/2007 - "We analyze data from clinical trials for treatment of osteogenesis imperfecta (OI), which is a genetic disease characterized by production of defective type I collagen. " 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."
4.	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." 01/31/2012 - "[Clinical study of oral alendronate in the treatment of pediatric 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. "
5.	Growth Hormone (Somatotropin)IBA 07/01/2005 - "Growth hormone stimulation of size and bone mineral content of osteogenesis imperfecta mutant mouse caudal vertebrae contributed to their improved performance in axial compression. " 02/01/2003 - "Extreme short stature is a cardinal feature of severe osteogenesis imperfecta (OI), types III and IV. We conducted a treatment trial of growth hormone in children with OI and followed linear growth velocity, bone metabolism markers, histomorphometrics, and vertebral bone density. " 07/01/2005 - "Effects of growth hormone transgene expression on vertebrae in a mouse model of osteogenesis imperfecta." 02/01/2002 - "Growth hormone therapy may increase fracture risk in a pubertal patient with osteogenesis imperfecta." 03/01/1998 - "Osteogenesis imperfecta: Are fractures and growth hormone treatment linked?"
6.	6- amino- 1- hydroxyhexane- 1,1- diphosphonateIBA 05/01/2005 - "Intravenous neridronate in children with osteogenesis imperfecta: a randomized controlled study." 08/01/2006 - "Neridronic acid (NER) is a N-BF molecule officially registered for the treatment of osteogenesis imperfecta. " 01/01/2003 - "Intravenous neridronate in adults with osteogenesis imperfecta." 04/01/2013 - "Neridronate, an intramuscular and intravenous aminobisphosphonate approved for the treatment of osteogenesis imperfecta and Paget's disease, is also effective in postmenopausal osteoporosis. " 01/01/2013 - "Neridronate is an aminobisphosphonate, licensed in Italy for the treatment of osteogenesis imperfecta (OI) and Paget's disease of bone (PDB). "
7.	zoledronic acid (zoledronate)FDA Link 01/01/2009 - "Observational study in 22 patients with osteogenesis imperfecta and related conditions who were treated at our institution with zoledronic acid. " 03/01/2015 - "[Zoledronic acid (zoledronate) in children with osteogenesis imperfecta]." 01/01/2011 - "Zoledronic acid treatment in children with osteogenesis imperfecta." 06/01/2010 - "[Effects of zoledronic acid in adults with osteogenesis imperfecta]." 01/01/2011 - "Hypocalcemia associated with zoledronic acid for osteogenesis imperfecta."
8.	Calcitonin (Calcitonin, Eel)FDA LinkGeneric 09/01/1992 - "Effect of long-term calcitonin therapy by injection and nasal spray on the incidence of fractures in osteogenesis imperfecta." 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. "
9.	AntigensIBA 06/15/2005 - "Adult human leukocyte antigen (HLA)-matched MSC have been used in cellular therapies of bone disorders such as osteogenesis imperfecta, with promising results. " 08/01/2007 - "In addition, the possible genetic relationship between otosclerosis and osteogenesis imperfecta, and the association between otosclerosis and specific human leucocyte antigen types are described. "
10.	KetamineFDA LinkGeneric 09/01/1981 - "Local or regional anesthesia is very useful in patients with osteogenesis imperfecta, but when general anesthesia is mandatory ketamine hydrochloride is often a good choice. "

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 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." 09/01/2014 - "Local transplantation is an effective method for cell delivery in the osteogenesis imperfecta murine model." 02/01/2014 - "Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience." 01/01/2014 - "Prenatal transplantation of mesenchymal stem cells to treat osteogenesis imperfecta."
2.	Stapes Surgery (Stapedectomy) 01/01/2007 - "Stapes surgery in osteogenesis imperfecta: a clinical study of 16 patients." 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. " 01/01/2012 - "Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears."
3.	Mesenchymal Stem Cell Transplantation 12/01/2013 - "There are several reports of mesenchymal stem cell transplantation for osteogenesis imperfecta fetus. " 01/01/2014 - "In utero transplantation (IUT) with stem cells could cure affected fetuses but so far in humans, successful IUT using allogeneic hematopoietic stem cells (HSCs), has been limited to fetuses with severe immunologic defects and more recently IUT with allogeneic mesenchymal stem cell transplantation, has improved phenotype in osteogenesis imperfecta. "
4.	General Anesthesia 10/01/2004 - "This report has shown satisfactory intra and postoperative evolution of Osteogenesis Imperfecta patient submitted to total intravenous general anesthesia. " 09/01/1981 - "Local or regional anesthesia is very useful in patients with osteogenesis imperfecta, but when general anesthesia is mandatory ketamine hydrochloride is often a good choice. "
5.	External Fixators 01/01/2012 - "In Lobstein's disease, good results can be obtained by the use of an Ilizarov external fixator. "