Osteogenesis Imperfecta: A study of the patient journey in 13 European countries.

ABSTRACT:

Introduction

Osteogenesis imperfecta (OI) is a heritable skeletal disorder and comprises various subtypes that differ in clinical presentation, with Type I considered the least severe and Types III/IV the most severe forms. The study aim was to understand the OI patient diagnostic and treatment journey across Europe.

Methods

We conducted a qualitative, descriptive study to understand the OI patient journey. A selection of people with OI/their caregivers and clinicians involved in OI-patient care from across Europe were interviewed using a specially developed questionnaire.

Results

Between May 2022 and July 2022, 22 people with OI/caregivers and 22 clinicians (endocrinologists, orthopaedic surgeons, geneticists and metabolic specialists) from across Europe were intervi

SUBMITTER: Westerheim I 

PROVIDER: S-EPMC11386111 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature