Evidence map›Paper›PMID 31693577›Full record

ReviewCurrent opinion in pediatrics2019

Osteogenesis imperfecta: advancements in genetics and treatment.

Vittoria Rossi, Brendan Lee, Ronit Marom

Registry-linked trialOpen access · greenAbstract readReview
In one paragraph

Review in Current opinion in pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05927389 (BONeMOVE), which is not on this map. Cited by 75 papers.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed
9.3field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT05927389 narecruitingnot on this mapstarted 2024, after this paper: background citation

BONeMOVE : an Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Osteogenesis Imperfecta: an Interventional, Prospective, Regional, Bicentric Study.

TypeinterventionalSponsorUniversity Hospital, ToulouseRan2024 to 2027Enrolled30ConditionsOsteogenesis ImperfectaArmsAdapted Physical Activity program
3 · Its place in the literature

Who cites it

75 citing papers in PubMed, 160 citations in OpenAlex.

  1. Article
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  3. Review
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  14. Anti-transforming growth factor-β treatment shows increased bone mass and strength in a novel mouse model for osteogenesis imperfecta type I.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025
    Article
  15. Article
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15 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Vittoria RossiDepartment of Molecular and Human Genetics, Baylor College of Medicine.
Brendan LeeDepartment of Molecular and Human Genetics, Baylor College of Medicine.
Ronit MaromDepartment of Molecular and Human Genetics, Baylor College of Medicine.
Baylor College of Medicine · US

Funding

UNDERSTANDING FXTAS AMONG MALES WITH THE FMR1 PREMUTATIONP30HD024064 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI TOLIAS, KIMBERLY R · 1988 to 2013
$29.4M
Project 3: 3D ImagingU54AR068069 · NIAMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 2014 to 2026
$19.3M
Project 3: Collagen post-translational modification and cross-linking in OIP01HD070394 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI LEE, BRENDAN · 2011 to 2020
$13.4M
MEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4M
NIAMS NIH HHS U54 AR068069NICHD NIH HHS P01 HD070394NICHD NIH HHS P30 HD024064NIGMS NIH HHS T32 GM007526
6 · The paper itself

Abstract

purpose of reviewThe purpose of this review is to outline the current understanding of the molecular mechanisms and natural history of osteogenesis imperfecta, and to describe the development of new treatments for this disorder. RECENT

findingsThe introduction of next-generation sequencing technology has led to better understanding of the genetic cause of osteogenesis imperfecta and enabled cost-effective and timely diagnosis via expanded gene panels and exome or genome sequencing. Clinically, despite genetic heterogeneity, different forms of osteogenesis imperfecta share similar features that include connective tissue and systemic manifestations in addition to bone fragility. Thus, the goals of treatment in osteogenesis imperfecta extend beyond decreasing the risk of fracture, to include the maximization of growth and mobility, and the management of extraskeletal complications. The standard of care in pediatric patients is bisphosphonates therapy. Ongoing preclinical studies in osteogenesis imperfecta mouse models and clinical studies in individuals with osteogenesis imperfecta have been instrumental in the development of new and targeted therapeutic approaches, such as sclerostin inhibition and transforming growth factor-β inhibition. SUMMARY: Osteogenesis imperfecta is a skeletal dysplasia characterized by bone fragility and extraskeletal manifestations. Better understanding of the mechanisms of osteogenesis imperfecta will enable the development of much needed targeted therapies to improve the outcome in affected individuals.

Indexed as

Adaptor Proteins, Signal TransducingAnimalsChildDiphosphonatesHumansMiceMolecular Targeted TherapyOsteogenesis ImperfectaAdaptor Proteins, Signal TransducingDiphosphonatesSOST protein, human

Identifiers

PMID31693577
PMCPMC7017716
OpenAlexW2966447228

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.