Characterisation of Adult-Onset Hypophosphatasia

NCT02796885 | Completed

• 3 other identifiers: STH1868316/NW/0385202179
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 2

Brief Summary

Hypophosphatasia (HPP) is an inherited condition which causes a defect in bone calcification, leading to weak bones. Early childhood forms are severe and easily recognised, and there is now a drug treatment which is very effective in children. Adult forms are milder, often missed by doctors or confused with osteoporosis. This is important because the usual osteoporosis treatments may be harmful in 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 recognise the signs, and don't know when or how to test for it. The aim of this study is to establish clear criteria (from clinical history, examination and blood tests) to identify people with HPP. The results will also determine if there should be a trial of drug treatment for adults with HPP.

Conditions

Hypophosphatasia

Outcome Measures

Primary Outcomes (1)

• ALP and PLP

  predictive value of low ALP with high PLP for TNSALP mutation (ROC curve)

  baseline cross-sectional

Secondary Outcomes (3)

• ALP:PINP ratio

  baseline cross-sectional

• prevalence of imaging-confirmed musculoskeletal pathology in patients with HPP

  baseline cross-sectional

• short physical function battery score

  baseline cross-sectional

Study Arms (3)

Possible hypophosphatasia

Patients attending metabolic bone services, not previously know to have HPP, with biochemistry suggestive of HPP Will have TNSALP gene test, clinical assessment for possible features of HPP, bone turnover marker profile.

Other: no intervention - observational study

Normal

Patients attending metabolic bone services, not previously know to have HPP, with normal HPP biochemistry Will have TNSALP gene test, clinical assessment for possible features of HPP, bone turnover marker profile.

Other: no intervention - observational study

Known hypophosphatasia

Patients attending metabolic bone services or registered with RUDY database, known to have HPP Will have TNSALP gene test, clinical assessment for possible features of HPP, bone turnover marker profile.

Other: no intervention - observational study

Interventions

no intervention - observational study OTHER

Known hypophosphatasia; Normal; Possible hypophosphatasia

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients attending metabolic bone services in Sheffield and Oxford, UK Patients with hypophosphatasia registered on the RUDY database.

You may qualify if:

• As the groups described above
• Able and willing to participate in the study and provide written informed consent

You may not qualify if:

• Other conditions known to affect serum ALP and PLP (Coeliac disease, B12 deficiency, untreated hypothyroidism, Wilson's disease)
• Taking nutritional supplements containing vitamin B6
• Pregnant

Sponsors & Collaborators

• Sheffield Teaching Hospitals NHS Foundation Trust: lead
• National Institute for Health Research, United Kingdom: collaborator
• Alexion Pharmaceuticals, Inc.: collaborator

Study Sites (2)

Nuffield Orthopaedic Research

Oxford, OX3 7HE, United Kingdom

Location

University of Sheffield

Sheffield, S10 2TN, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Serum, plasma, urine, whole blood for DNA

MeSH Terms

Conditions

Hypophosphatasia

Condition Hierarchy (Ancestors)

Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Richard Eastell

  University of Sheffield

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 4, 2016
• First Posted: June 13, 2016
• Study Start: November 1, 2016
• Primary Completion: December 31, 2019
• Study Completion: December 31, 2019
• Last Updated: November 15, 2023

Record last verified: 2023-11

Locations

GB (2)