Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

Bishop, Nick; Adami, Silvano; Ahmed, S Faisal; Antón, Jordi; Arundel, Paul; Burren, Christine P; Devogelaer, Jean‐Pierre; Hangartner, Thomas N.; Hosszú, Éva; Lane, Joseph M.; Lorenc, Roman; Mäkitie, Outi; Munns, Craig F; Paredes, Ana; Pavlov, Helene; Plotkin, Horacio; Raggio, Cathleen; Reyes, María Loreto; Schöenau, Eckhard; Semler, Oliver; Sillence, David; Steiner, Robert D.

doi:10.1016/s0140-6736(13)61091-0

Cited by 174 publications

(160 citation statements)

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“…Sakkers et al (19) did not find any differences in radiographic assessments of lumbar vertebral heights between olpadronate and placebo at 24 mo of follow up. Other studies have found statistically significant increases in height Z-scores in response to 12 mo of alendronate, risedronate, and intravenous pamidronate therapy, respectively (20)(21)(22). However, none of these studies analyzed the outcome measure of final height, which is the true measure of clinical effect on linear growth.…”

Section: Discussionmentioning

confidence: 99%

“…Patients with type IV OI have mild to moderate short stature with a variable phenotype in terms of linear growth and extent of fractures although always shorter than their genetic target heights (5,12,(14)(15)(16)(17)(18). Several studies have examined vertebral height after bisphosphonate treatment during varying periods of linear growth and have found conflicting results as to the efficacy of this therapy (19)(20)(21)(22), although there are no prospective studies to date that have examined the effect on final height in the OI population. Because bisphosphonates are often given at different ages and over varying durations of time, there is often limited ability to make any general conclusions about treatment efficacy.…”

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confidence: 99%

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Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care

et al. 2015

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Background: There is strikingly limited information on linear growth and weight in the different types of osteogenesis imperfecta (OI). Here, we define growth patterns further with the intent of implementing appropriate adaptations proactively. Methods: We report cross-sectional anthropometric data for 343 subjects with different OI types (144 children, 199 adults). Longitudinal height data for 36 children (18 girls, 18 boys) with OI type I and 10 children (8 girls, 2 boys) with OI type III were obtained. results: In all cases, the height Z-scores were negatively impacted, and final height Z-scores were impacted the most. In type I, the growth velocities taper near puberty, and there is a blunted pubertal growth spurt. The growth velocities of children with type III decelerate before age 5 y; poor growth continues without an obvious pubertal growth spurt. Obesity is a concern for all patients with OI, with type III patients being the most affected. conclusion: The linear growth patterns, in addition to the marked increase in weight over time, indicate a need for lifestyle modifications early in childhood, especially a need for weight control. Further definition of the anthropometric measures in OI enables patients to begin modifications as early as possible.o steogenesis imperfecta (OI) comprises a group of heri-

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care

et al. 2015

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“…Clear evidence exists that bisphosphonates improve bone microarchitecture 164 , bone mass 165 , long bone bow ing deformity 166 , and restore vertebral size and shape 150 in osteogenesis imperfecta. Vertebral compression was reduced, and areal bone density increased by about 1.5 standard deviation (z score) in the first treatment year in most paediatric placebo controlled trials in osteogenesis imperfecta 167 .…”

Section: Pharmacological Treatmentmentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

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| Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation. NATURE REVIEWS | DISEASE PRIMERS VOLUME 3 | ARTICLE NUMBER 17052 | 1 PRIMER © 2 0 1 7 M a c m i l l a n P u b l i s h e r s L i m i t e d , p a r t o f S p r i n g e r N a t u r e . A l l r i g h t s r e s e r v e d .In this Primer, we provide an overview of epidemio logy, genetics and pathophysiology of osteogenesis imperfecta, as well as diagnosis and management. EpidemiologyStudies from Europe and the United States have found a birth prevalence of osteogenesis imperfecta of 0.3-0.7 per 10,000 births 5,6 . These birth cohort analyses reflect more severe types of osteogenesis imperfecta and do not include more subtle types that become apparent after birth. A population based study that used the Danish National Patient Register found an annual incidence of osteogenesis imperfecta of 1.5 per 10,000 births between 1997 and 2013 (REF. 7). Population surveys in countries with comprehensive medical databases, such as Finland, estimated a prevalence of about 0.5 per 10,000 individ uals 8 , with most having phenotypically milder osteo genesis imperfecta type I and type IV (BOX 1; TABLE 1). Because these birth cohort and population surveys are based on clinical findings and tend to find mutu ally exclusive populations, a reasonable estimate of the incidence of osteogenesis imperfecta is about 1 per 10,000 individuals. Most patients are heterozygous for mutations in COL1A1 or COL1A2. No difference in the prevalence between sexes was reported.Approximately 90% of the 3,000 individuals whose mutations ha...

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“…(90,100) There is no evidence, however, that bisphosphonates alter bone material properties in such a way as to further reduce fracture risk. It follows that there is a limit to what current treatment can achieve regarding fracture risk reduction in terms of offsetting increased bone mass and improved macroarchitecture against the poor material properties that characterize OI bone.…”

Section: Effects Of Current Interventions In Oimentioning

confidence: 99%

Bone Material Properties in Osteogenesis Imperfecta

Bishop

2016

Journal of Bone and Mineral Research

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Osteogenesis imperfecta entrains changes at every level in bone tissue, from the disorganization of the collagen molecules and mineral platelets within and between collagen fibrils to the macroarchitecture of the whole skeleton. Investigations using an array of sophisticated instruments at multiple scale levels have now determined many aspects of the effect of the disease on the material properties of bone tissue. The brittle nature of bone in osteogenesis imperfecta reflects both increased bone mineralization density-the quantity of mineral in relation to the quantity of matrix within a specific bone volume-and altered matrix-matrix and matrix mineral interactions. Contributions to fracture resistance at multiple scale lengths are discussed, comparing normal and brittle bone. Integrating the available information provides both a better understanding of the effect of current approaches to treatment-largely improved architecture and possibly some macroscale toughening-and indicates potential opportunities for alternative strategies that can influence fracture resistance at longer-length scales.

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Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

Cited by 174 publications

References 24 publications

Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care

Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care

Osteogenesis imperfecta

Bone Material Properties in Osteogenesis Imperfecta

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