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Clinical Trial 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).


Clinical Trial Description

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. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT02751801
Study type Observational
Source Sheffield Teaching Hospitals NHS Foundation Trust
Contact
Status Completed
Phase
Start date November 2016
Completion date December 2017

See also
  Status Clinical Trial Phase
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Recruiting NCT02237625 - Natural History Study of Patients With Hypophosphatasia (HPP)
Completed NCT02291497 - Burden of Disease in Hypophosphatasia (HPP) N/A
Active, not recruiting NCT04195763 - Patient Reported Outcomes in Adults With Pediatric-onset Hypophosphatasia Treated With Strensiq® (Asfotase Alfa)
Not yet recruiting NCT05596539 - Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)
Completed NCT02796885 - Characterisation of Adult-Onset Hypophosphatasia
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Recruiting NCT05234567 - A Prospective Sub-Study of the Global Hypophosphatasia Registry
Not yet recruiting NCT06079359 - Phase 3 Study of ALXN1850 in Treatment-Naïve Pediatric Participants With HPP Phase 3
Completed NCT02797821 - Pharmacokinetic and Dose Response Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia (HPP) Phase 2
Completed NCT01163149 - Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP) Phase 2
Completed NCT04925804 - Unraveling Genetics of HypoPhosPhatasia (HPP Genetics)
Completed NCT02531867 - Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Phase 4
Completed NCT01406977 - Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP) Phase 2
Recruiting NCT01793168 - Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Completed NCT01176266 - Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) Phase 2/Phase 3
Withdrawn NCT00894075 - Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP) Phase 2
Active, not recruiting NCT04222452 - The PORTRAIT Study
Recruiting NCT06079281 - Phase 3 Study of ALXN1850 Versus Placebo in Adolescent and Adult Participants With HPP Who Have Not Previously Been Treated With Asfotase Alfa Phase 3
Not yet recruiting NCT06079372 - Phase 3 Study of ALXN1850 in Pediatric Participants With HPP Previously Treated With Asfotase Alfa Phase 3