跳至主要内容
临床试验/NCT02796885
NCT02796885已完成不适用

Characterisation of Adult-Onset Hypophosphatasia

Sheffield Teaching Hospitals NHS Foundation Trust2 个研究点 分布在 1 个国家目标入组 60 人开始时间: 2016年11月最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
入组人数
60
试验地点
2
主要终点
ALP and PLP

研究概览

简要总结

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.

详细描述

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, Alexion Pharma). 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.

Additionally, patients with hypophosphatasia are often not recognised, and are misdiagnosed as having osteoporosis. This is important because patients with hypophosphatasia are at risk of developing atypical femoral fractures if they are treated with usual osteoporosis medication (bisphosphonates).

A major contributor to the under-recognition of adult HPP is the lack of phenotypic description and biomarker definitions. The aim of this project is to identify the clinical and biochemical characteristics that identify HPP.

研究设计

研究类型
Observational
观察模型
Case Control
时间视角
Cross Sectional

入排标准

年龄范围
16 Years 至 —(Child, Adult, Older Adult)
性别
All
接受健康志愿者

入选标准

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

排除标准

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

结局指标

主要结局

ALP and PLP

时间窗: baseline cross-sectional

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

次要结局

  • 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)

研究者

申办方类型
Other
责任方
Sponsor

研究点 (2)

Loading locations...

相似试验