Family mapping of previously identified HPP patients (FAME study)
Research type
Research Study
Full title
Family mapping of previously identified HPP patients using predictive genotyping and detailed phenotyping approach
IRAS ID
301025
Contact name
Aimee Card
Contact email
Sponsor organisation
Sheffield Teaching Hospitals NHS FT
Duration of Study in the UK
1 years, 10 months, 1 days
Research summary
Hypophosphatasia (HPP) is an inherited condition, caused by a fault in the ALPL gene. HPP causes a defect in bone mineralization, leading to weak bones. Early childhood forms are severe and easily recognizable, and there is now a drug treatment which is very effective in children. Adult forms can vary in severity. HPP is often missed by doctors or confused with osteoporosis. It is however important to make the distinction 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.
Different gene faults have different manifestations, and we do not know what to expect for each gene fault. Sometimes, people with the same gene fault have different manifestations.
We will study families to find out who has the gene fault and what are their range of symptoms. We will check if these symptoms are associated with specific gene faults. This will help us to understand how the gene fault affects people in different ways and how the defective gene is transmitted within families. These results will also help us to estimate which manifestations to expect in people who have gene faults.REC name
South Central - Oxford A Research Ethics Committee
REC reference
21/SC/0376
Date of REC Opinion
17 Nov 2021
REC opinion
Favourable Opinion