Evidence map›Paper›PMID 39932815›Full record

ReviewHuman gene therapy2025

Comprehensive Review of Osteogenesis Imperfecta: Current Treatments and Future Innovations.

Sachin Chaugule, Christodoulos Kypros Constantinou, Aijaz Ahmad John, Dimitra Micha, Marelise Eekhoff, Ellen Gravallese, Guangping Gao, Jae-Hyuck Shim

Abstract readReview
In one paragraph

Review in Human gene therapy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
–field-weighted citation impact
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Neural Orchestration of Mandibular Development.International dental journal · 2026
    Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. [Hypermobility-Importance in rheumatology].Zeitschrift fur Rheumatologie · 2025
    Review
  12. Article
  13. Article
  14. Article
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

8 authors.

Sachin ChauguleDivision of Rheumatology, Department of Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.ORCID 0000-0001-6323-2034
Christodoulos Kypros ConstantinouDivision of Rheumatology, Department of Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.
Aijaz Ahmad JohnDivision of Rheumatology, Department of Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.
Dimitra MichaDepartment of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam; Amsterdam Rare Bone Disease center, Amsterdam Bone Center, Amsterdam Movement Sciences, Amsterdam Reproduction and Development, Amsterdam, The Netherlands.
Marelise EekhoffDepartment of Internal Medicine, Section Endocrinology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam; Amsterdam Rare Bone Disease center, Amsterdam Bone Center, Amsterdam Movement Sciences, Amsterdam Reproduction and Development Amsterdam, Amsterdam, Netherlands.ORCID 0000-0001-5399-676X
Ellen GravalleseDivision of Rheumatology, Inflammation, and Immunity, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Guangping GaoHorae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.
Jae-Hyuck ShimDivision of Rheumatology, Department of Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.ORCID 0000-0002-4947-3293

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility due to reduced bone quality, often accompanied by low bone mass, recurrent fractures, hearing loss, skeletal abnormalities, and short stature. Pathogenic variants in over 20 genes lead to clinical and genetic variability in OI, resulting in diverse symptoms and severity. Current management involves a multidisciplinary approach, including antiresorptive medications, physiotherapy, occupational therapy, and orthopedic surgery, which provide symptomatic relief but no cure. Advancements in gene therapy technologies and stem cell therapies offer promising prospects for long-lasting or permanent solutions. This review provides a comprehensive overview of OI's classification, pathogenesis, and current treatment options. It also explores emerging biotechnologies for stem cells and gene-targeted therapies in OI. The potential of these innovative therapies and their clinical implementation challenges are evaluated, focusing on their imminent success in treating bone disorders.

Indexed as

Genetic TherapyOsteogenesis ImperfectaHumansStem Cell TransplantationAAVcell and gene therapycollagenosteoblastosteogenesis imperfecta

Identifiers

PMID39932815
PMCPMC11971546

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.