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NCT Number: NCT02751801

Health Burden of Hypophosphatasia

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).

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Key information

Conditions

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

Age range

Up to 100 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Academic Unit of Bone Metabolism (Sheffield)

Sheffield, South Yorks, S5 7AU, United Kingdom

About this study

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:

  • Fractures
  • Dental problems
  • Skeletal complications
  • Mobility problems
  • Neurosurgical complications
  • Seizures
  • Respiratory complications
  • Depression and anxiety
  • Side effects of treatment including hypercalcaemia and hyperphosphataemia Deaths will also be recorded

Health care resource assessment will include

  • Primary care episodes
  • Secondary and tertiary care outpatient episodes
  • In-patient episodes
  • Nutritional support
  • Therapy support
  • Dental treatment
  • Over the counter medication use

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Hypophosphatasia

Exclusion criteria

  • Unable/unwilling to give informed consent

Treatment and study plan

No intervention

Other

Primary outcomes

  1. description of healthcare use

    Time frame: one day study visit

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

Secondary outcomes

  1. healthcare use appointments

    Time frame: one day study visit

    descriptive data on number of healthcare encounters

  2. healthcare cost

    Time frame: one day study visit

    estimated healthcare cost attributable to HPP

Sponsors and collaborators

Lead sponsor

Sheffield Teaching Hospitals NHS Foundation Trust

Other

Registry information

Important dates

Study start
2016
Primary completion
2017
Study completion
2017
First posted
Apr 26, 2016
Registry last updated
Feb 15, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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