Health Burden of Hypophosphatasia

NCT02751801 | Completed

• 1 other identifier: STH19182
• Study Type: observational
• Target: 28
• Locations: 1 country
• Sites: 1

Brief Summary

Hypophosphatasia (HPP) is a genetic disorder caused by mutation in the tissue-non-specific alkaline phosphatase gene (TNSALP). It causes impaired bone mineralisation, fractures, tooth loss, muscle weakness and possibly other adverse health outcomes. The infantile-onset forms are severe, and were often fatal until the recent availability of a treatment (Asfotase Alfa). The childhood-onset forms are less severe, and the adult-onset form is mild, and often unrecognised or misdiagnosed as osteoporosis. The less severe forms of the disease are not well described, and because there has been no available treatment there has not been much research in adults. However, now that treatment is available there is a possibility of a clinical trial in adults. To know whether there is a need for a trial there is a need to determine if there is a significant personal and economic burden associated with the less severe forms of HPP. The study consists of a clinical interview and notes review of adults and children with confirmed (by biochemical and genetic testing) HPP attending metabolic bone clinics in Sheffield to establish their clinical problems and healthcare use. There are currently about 26 adults and 8 children attending clinics in Sheffield. The information will be used to plan a data search and health economic analysis of the burden of HPP from the UK Clinical Practice Research Database in collaboration with Pharmatelligence (a healthcare data group based within the University of Cardiff).

Conditions

Hypophosphatasia

Outcome Measures

Primary Outcomes (1)

• description of healthcare use

  Descriptive data on which health care services the patient has used in relation to HPP

  one day study visit

Secondary Outcomes (2)

• healthcare use appointments

  one day study visit

• healthcare cost

  one day study visit

Study Arms (1)

Adults and children with hypophosphatasia

Healthcare use interview

Other: no intervention

Interventions

no intervention OTHER

Adults and children with hypophosphatasia

Eligibility Criteria

• Age: Up to 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adults and children with hypophosphatasia

You may qualify if:

• Hypophosphatasia

You may not qualify if:

• Unable/unwilling to give informed consent

Sponsors & Collaborators

• Sheffield Teaching Hospitals NHS Foundation Trust: lead

Study Sites (1)

Academic Unit of Bone Metabolism (Sheffield)

Sheffield, South Yorks, S5 7AU, United Kingdom

Location

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, MD FRCP

  University of Sheffield

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 1, 2016
• First Posted: April 26, 2016
• Study Start: November 1, 2016
• Primary Completion: December 1, 2017
• Study Completion: December 1, 2017
• Last Updated: February 15, 2019

Record last verified: 2019-02

Locations

GB (1)