An observational study on adults with HPP
Research type
Research Study
Full title
An observational study on clinical manifestations of hypophosphatasia in adults and its impact on quality of life
IRAS ID
323349
Contact name
Nirusha Pathmanathan
Contact email
Sponsor organisation
Joint and Research Enterprise Services, St Georges University Hospitals NHS Foundation Trust
Duration of Study in the UK
3 years, 6 months, 31 days
Research summary
Hypophosphatasia (HPP) is a rare inherited disease leading to impaired mineralisation of bone and teeth. This disease is caused by the mutation of Tissue Non-specific Alkaline phosphatase (ALPL) gene. The prevalence of HPP range from 0.3/100,000 in severe forms and 1/6370 in less severe forms. The wide-ranging clinical manifestations includes skeletal, muscular, and dental problems, fractures, delayed healing, pain, fatigue, neurological, renal complications, and ambulatory difficulties. Limited research study on this disease underscore hypophosphatasia is often underdiagnosed over the world with an average diagnostic delay of more than ten years. It is also known that the diverse disease manifestations can progress in an individual’s lifetime and does affect the quality of life, even in patients on enzyme replacement therapy. The substantial disease burden often lead to potential gap in patient care. The manifestations of HPP have also proved to have a significant effect on patient reported outcomes (PRO) measures on pain, health related quality of life (HRQoL) and disability.
St George’s University Hospital is one of the eight adult specialist centres in the United Kingdom engaged in diagnosing and treating this condition. Our tertiary centre receives streamlined referrals from hospitals in Southeast of England for genetic screen, specialist clinical assessment and imaging to help with diagnosis of this condition. Our proposed observational study on the HPP patient cohort at our centre will help to understand the comprehensive musculoskeletal symptom spectrum, genetic variations and its correlation with phenotype, and impact on the quality of life. This study and other registry studies will also help to develop a national guideline for the diagnosis and management of Hypophosphatasia in the future.
REC name
South Central - Hampshire B Research Ethics Committee
REC reference
23/SC/0099
Date of REC Opinion
10 Nov 2023
REC opinion
Further Information Favourable Opinion