Alkaptonuria Questionnaire Study
Research type
Research Study
Full title
Alkaptonuria Questionnaire study
IRAS ID
242534
Contact name
Lakshminarayan Ranganath
Contact email
Sponsor organisation
University of Liverpool
Duration of Study in the UK
2 years, 7 months, 31 days
Research summary
Alkaptonuria (AKU) is a genetic disorder present from birth affecting men and women from around age 30 years. The disease manifests earlier in men compared with women. Severity of manifestations including musculoskeletal are variable and unpredictable. Since AKU is a disturbance in the tyrosine (protein) pathway, diet is expected to influence severity. Since major manifestations affect cartilage, physical activity is also expected to influence the severity. Although AKU is a monogenic disease, background osteoarthritis is family way affect severity. Collecting to event data on manifestations enables a better understanding of severity of AKU and factors affecting AKU beyond the genetic. For these reasons we propose to collect questionnaire data relating to family history of arthritis, timeline of morbid features of AKU, one year and life time dietary analysis, as well as short term (one week) and lifetime physical activity data for analysis.
REC name
HSC REC B
REC reference
18/NI/0086
Date of REC Opinion
15 May 2018
REC opinion
Further Information Favourable Opinion