Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone.

ABSTRACT:

Introduction

Paget's disease of bone (PDB) frequently presents at an advanced stage with irreversible skeletal damage. Clinical outcomes might be improved by earlier diagnosis and prophylactic treatment.

Methods

We randomised 222 individuals at increased risk of PDB because of pathogenic SQSTM1 variants to receive 5 mg zoledronic acid (ZA) or placebo. The primary outcome was new bone lesions assessed by radionuclide bone scan. Secondary outcomes included change in existing lesions, biochemical markers of bone turnover and skeletal events related to PDB.

Results

The median duration of follow-up was 84 months (range 0-127) and 180 participants (81%) completed the study. At baseline, 9 (8.1%) of the ZA group had PDB lesions vs 12 (10.8%) of the placebo group. Two

SUBMITTER: Phillips J 

PROVIDER: S-EPMC10958267 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature