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NCT02432625

BBD Longitudinal Study of Osteogenesis Imperfecta

Recruiting now Last updated 13 August 2025
What this trial tests

trial in Osteogenesis Imperfecta in 1,000 participants. Currently enrolling.

Timeline
1 June 2015
Primary endpoint
31 August 2030
31 December 2031

Quick facts

Lead sponsorBaylor College of Medicine
StatusRecruiting now
Study typeOBSERVATIONAL
Enrollment1,000
Start date1 June 2015
Primary completion31 August 2030
Estimated completion31 December 2031
Sites12 locations across Canada, United States

Conditions studied

Sponsor

Baylor College of Medicine

Who can join

Eligibility, any sex, with Osteogenesis Imperfecta. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Osteogenesis Imperfecta (OI) is a rare disorder of increased bone fragility characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. The clinical features of OI represent a continuum varying from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal lifespan. Fractures can occur in any bone, but are most common in the extremities. These disorders can be devastating and progressive and result in deformity, chronic pain, impaired function and loss of quality of life. The overall goal of this study is to answer specific question about the natural history of brittle bone diseases as defined by molecular etiology and to develop the foundation for prospective clinical studies.

Publications & conference data

7 peer-reviewed publications reference this trial (live from Europe PMC):

  1. Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta.
    Murali CN, Cuthbertson D, Slater B, Nguyen D, et al · · 2020 · cited 18× · PMID 31772349 · DOI 10.1038/s41436-019-0688-6
  2. A multicenter study to evaluate pain characteristics in osteogenesis imperfecta.
    Rodriguez Celin M, Kruger KM, Caudill A, Murali CN, et al · · 2023 · cited 17× · PMID 36271817 · DOI 10.1002/ajmg.a.63009
  3. The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.
    Marom R, Song IW, Busse EC, Washington ME, et al · · 2024 · cited 9× · PMID 38885336 · DOI 10.1172/jci170369
  4. Health-related quality of life in adults with osteogenesis imperfecta.
    Murali CN, Slater B, Musaad S, Cuthbertson D, et al · · 2021 · cited 9× · PMID 33580568 · DOI 10.1111/cge.13939
  5. Alterations of a serum marker of collagen X in growing children with osteogenesis imperfecta.
    Nicol LE, Coghlan RF, Cuthbertson D, Nagamani SCS, et al · · 2021 · cited 6× · PMID 33932621 · DOI 10.1016/j.bone.2021.115990
  6. Cross-sectional and longitudinal analysis of bone age maturation during peri-pubertal growth in children with type I, III and IV osteogenesis imperfecta.
    Nicol LE, Baines H, Koike S, Liu W, et al · · 2024 · cited 3× · PMID 38969279 · DOI 10.1016/j.bone.2024.117192
  7. CORR Insights®: Cardiopulmonary Status in Adults with Osteogenesis Imperfecta: Intrinsic Lung Disease May Contribute More Than Scoliosis.
    Gerdhem P. · · 2020 · PMID 32925237 · DOI 10.1097/corr.0000000000001469

Verify or expand the search:

Other recruiting trials for Osteogenesis Imperfecta

Currently open trials in the same condition.

Other Baylor College of Medicine trials

Trials by the same sponsor.

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Data sources for this page

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