Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 200
- 试验地点
- 22
- 主要终点
- Characterise the circumstances of diagnosis, and deduce ways to reduce the diagnostic delay of hypophosphatasia in adults.
研究概览
简要总结
The purpose of this study is to assess medical events during follow-up of adult patients having hypophosphatasia and consulting rheumatologists.
详细描述
Hypophosphatasia (HPP) is a rare inherited disease caused by mutations of the ALPL gene. In adult HPP, patients may suffer from fractures, pseudofractures, fracture healing complications, osteoarthritis, chondrocalcinosis, dental diseases, muscle pain and disability, but also headache, muscle weakness, ocular disease, and other symptoms. In some cases the diagnosis is severely delayed. Moreover a number of patients having such symptoms and a low level of serum alkaline phosphatase, without gene mutation can be followed by rheumatologists with difficulties in management of bone fragility and pain. The aim of this register is to describe prospectively the medical events in adult patients having hypophosphatasia, whether or not there is a proven genetic abnormality.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •men and women,
- •aged 18 and over, with no upper age limit, who have had a total alkaline phosphatase value of less than 40 IU/l on at least 3 occasions, or at least a total alkaline phosphatase value below 40 IU/L and evidence of ALPL gene polymorphism
- •with at least one rheumatological symptom.
排除标准
- •transient hypophosphatasia: absence of confirmation of a value below 40 IU/l on at least 3 samples, lack of genetic confirmation
- •secondary hypophosphatasia according to the expert rheumatologist (drugs, endocrine disease, other genetic disease...).
结局指标
主要结局
Characterise the circumstances of diagnosis, and deduce ways to reduce the diagnostic delay of hypophosphatasia in adults.
时间窗: At inclusion
Time since first symptom due to hypophosphatasia
次要结局
- Characterise the forms for which the genetic analysis is negative(At inclusion)
- Recognise situations of associated osteoporosis.(At 72 months)
- Characterise "non bony" forms: chondrocalcinosis, multiple tendon calcifications, inflammatory pseudo-rheumatism, odonto-HPP(At inclusion)
- Characterise the practical follow-up of asfotase alpha treatment started in adults(At 72 months)