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Introduction <p>Osteogenesis imperfecta (OI) is a rare disorder causing multiple fractures throughout life. No treatment has been shown to reduce the risk of fractures in OI. Here, we present the baseline characteristics of participants in the <Emphasis Type="Underline">T</Emphasis>reatment of <Emphasis Type="Underline">O</Emphasis>steogenesis Imperfecta with <Emphasis Type="Underline">P</Emphasis>arathyroid Hormone <Emphasis Type="Underline">a</Emphasis>nd <Emphasis Type="Underline">Z</Emphasis>oledronic Acid (TOPaZ) trial. The aim of the trial is to determine whether teriparatide and zoledronic acid are superior to standard care in reducing the risk of clinical fractures.</p> Methods <p>We summarised data on the baseline characteristics of TOPaZ participants, including demographics, genetic diagnosis, clinical features, bone density measurements, previous treatments, and fracture history.</p> Results <p>We recruited 350 adults with a clinical diagnosis of OI in 27 European referral centres between June 2017 and October 2022. Overall, 266 (76.2%) had type I OI, 55 (15.8%) had type IV, and 19 (5.4%) had type III. The type was unknown in 9 (2.6%). Blue sclera were noted in 80.8%, and 35.8% had dentinogenesis imperfecta. Bisphosphonates had been administered to 28.1% in the 2 years prior to enrolment. Pathogenic variants in <i>COL1A1</i> or <i>COL1A2</i> were found in 87.6%. Fractures occurring in the 2 years prior to enrolment were not associated with bone density.</p> Conclusions <p>The TOPaZ population represents a unique cohort with which to study the genetic epidemiology and outcome of OI in relation to bone density and biochemical markers of bone turnover. When the trial reports, it will also provide new insights into the effect of an anabolic therapy, followed by antiresorptive treatment in the management of OI.</p>

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Baseline Characteristics of the TOPaZ Study: Randomised Trial of Teriparatide and Zoledronic Acid Compared with Standard Care in Adults with Osteogenesis Imperfecta

  • 期刊论文

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  • 发表日期：

    2025年11月8日

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  • Jannie Dahl Hald,
  • Christopher Weir,
  • Catriona Keerie,
  • Lorna Dewar,
  • Morag MacLean,
  • Lynsey Milne,
  • Richard Keen,
  • Jennifer Walsh,
  • Kenneth Poole,
  • Bente Langdahl,
  • John R. Lindsay,
  • Nazim Ghouri,
  • Rosemary J Hollick,
  • Terry Aspray,
  • Rachel K. Crowley,
  • Martine Cohen-Solal,
  • Zaki Hassan-Smith,
  • Stephen Tuck,
  • Elizabeth Curtis,
  • Nick Harvey,
  • E. Marelise W. Eekhoff,
  • Johannes Feenstra,
  • Geeta Hampson,
  • Mike Stone,
  • Jane Turton,
  • Prashanth Patel,
  • Mashood Siddiqi,
  • Robin Munro,
  • Matthew Roy,
  • Zoe Paskins,
  • Deepa Narayanan,
  • Ellen Malcolm,
  • Muhammad Kassim Javaid,
  • Patricia Osborne,
  • Jonathan C. Y. Tang,
  • Wayne Lam,
  • David Moore,
  • Holly A. Black,
  • Andrew D. Duckworth,
  • Navnit Makaram,
  • Tianyu Guo,
  • Gregor Stenhouse,
  • Stuart H. Ralston

摘要

Introduction

Osteogenesis imperfecta (OI) is a rare disorder causing multiple fractures throughout life. No treatment has been shown to reduce the risk of fractures in OI. Here, we present the baseline characteristics of participants in the Treatment of Osteogenesis Imperfecta with Parathyroid Hormone and Zoledronic Acid (TOPaZ) trial. The aim of the trial is to determine whether teriparatide and zoledronic acid are superior to standard care in reducing the risk of clinical fractures.

Methods

We summarised data on the baseline characteristics of TOPaZ participants, including demographics, genetic diagnosis, clinical features, bone density measurements, previous treatments, and fracture history.

Results

We recruited 350 adults with a clinical diagnosis of OI in 27 European referral centres between June 2017 and October 2022. Overall, 266 (76.2%) had type I OI, 55 (15.8%) had type IV, and 19 (5.4%) had type III. The type was unknown in 9 (2.6%). Blue sclera were noted in 80.8%, and 35.8% had dentinogenesis imperfecta. Bisphosphonates had been administered to 28.1% in the 2 years prior to enrolment. Pathogenic variants in COL1A1 or COL1A2 were found in 87.6%. Fractures occurring in the 2 years prior to enrolment were not associated with bone density.

Conclusions

The TOPaZ population represents a unique cohort with which to study the genetic epidemiology and outcome of OI in relation to bone density and biochemical markers of bone turnover. When the trial reports, it will also provide new insights into the effect of an anabolic therapy, followed by antiresorptive treatment in the management of OI.