An observational study in Hypophosphatasia, sponsored by Sheffield Teaching Hospitals NHS Foundation Trust. Completed at 1 site in United Kingdom. Open to participants aged Up to 100 Years. Per ClinicalTrials.gov, last updated 2019-02-15.
Sponsored by Sheffield Teaching Hospitals NHS Foundation Trust · Observational
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).
This is an observational retrospective study to describe the clinical problems and healthcare use of adults and children with hypophosphatasia.
Interviews will be conducted with patients with childhood- and adult-onset hypophosphatasia (and the parents of the children). Hospital notes, appointment records and GP summary care records will also be reviewed.
These sources will be used to describe their clinical problems, how these problems affect their daily function, and which healthcare services they have used.
Patients will attend for a single visit to obtain informed consent and conduct the interview.
Health problems specifically assessed in detail will include:
Health care resource assessment will include
A case data report form will be developed as an iterative process through the period of the interviews to ensure that all data of potential interest is captured. Because the condition is not well described it is important that the data reported is not limited to the areas where it might be already expected to find problems.
45 studies on the registry are indexed under Hypophosphatasia; 10 are open to participants now.
This study's enrollment of 28 is below the median of 58 across 22 observational studies indexed under Hypophosphatasia.
Browse Hypophosphatasia studies →Sheffield Teaching Hospitals NHS Foundation Trust is the lead sponsor of 207 studies on the registry; 26 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Adults and children with hypophosphatasia
Exclusion Criteria:
Healthcare use interview
Other: no intervention
description of healthcare use
Descriptive data on which health care services the patient has used in relation to HPP
Time frame: one day study visit
healthcare use appointments
descriptive data on number of healthcare encounters
Time frame: one day study visit
healthcare cost
estimated healthcare cost attributable to HPP
Time frame: one day study visit
This study is completed, as verified in Feb 2019. You cannot join it, but the record below documents what was studied.
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Sheffield Teaching Hospitals NHS Foundation Trust