The PORTRAIT Study
Research type
Research Study
Full title
Clinical consequences of adults presenting with hypophosphatasia with special focus on gait, bone microstructure and cognition: The PORTRAIT Study
IRAS ID
268530
Contact name
Richard Eastell
Contact email
Sponsor organisation
Sheffield Teaching Hospitals NHS Foundation Trust
Duration of Study in the UK
1 years, 5 months, 28 days
Research summary
Clinical Consequences of Adults Presenting with Hypophosphatasia with Special Focus on Gait, Bone Microstructure and Cognition: The PORTRAIT study
Hypophosphatasia (HPP) is an inherited condition that leads to weak bones. Early childhood forms are severe and easily recognized. Adult forms can vary in severity. HPP is often missed by doctors or confused with osteoporosis. This is important because the usual osteoporosis treatments may be harmful to patients with HPP and increase the risk of broken bones. One of the reasons it is missed is a lack of research describing the typical features of HPP, so doctors don’t recognize the signs, and don’t know when or how to test for it. The PORTRAIT Study will help us to better understand the burden of disease of HPP on patients.
Our aim is to examine the effects of HPP on bone structure and strength, physical functioning, cognition, and quality of life. We will study adults with HPP and healthy age- and gender-matched individuals.
Blood samples will be collected after an overnight fast. We will use these samples to measure markers of HPP and bone health. Medical history and lifestyle, quality of life and cognitive function will be assessed using questionnaires. Bone mineral density, body composition and bone structure and strength will be measured using dual energy x-ray absorptiometry and high resolution peripheral quantitative computed tomography. Physical functioning will be assessed as participants perform a series of physical performance and gait tests. Magnetic resonance images of the lower limbs will be matched-up with the physical functioning data to create patient-specific musculoskeletal models. Cognitive function tests will be performed to assess cognition and mental health.
To reveal the burden of disease of HPP, the data collected from patients with HPP will be compared to that collected from healthy controls.REC name
Yorkshire & The Humber - South Yorkshire Research Ethics Committee
REC reference
19/YH/0302
Date of REC Opinion
1 Oct 2019
REC opinion
Further Information Favourable Opinion