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The PORTRAIT Study

NCT04222452 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 14

Last updated 2022-11-02

No results posted yet for this study

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 increase understanding of the burden of disease of HPP on patients. The aim is to examine the effects of HPP on bone structure and strength, physical functioning, cognition, and quality of life. Researchers will study adults with HPP and healthy age- and gender-matched individuals. Blood samples will be collected after an overnight fast. Researchers 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.

Conditions

  • Hypophosphatasia

Sponsors & Collaborators

  • University of Sheffield

    collaborator OTHER

  • Sheffield Teaching Hospitals NHS Foundation Trust

    lead OTHER

Principal Investigators

  • Richard Eastell, MD · University of Sheffield

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2021-07-12
Primary Completion
2023-02-28
Completion
2023-02-28

Countries

  • United Kingdom

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04222452 on ClinicalTrials.gov