Identification of alkaptonuria in the general population: A United Kingdom experience describing the challenges, possible solutions and persistent barriers

Ranganath, L., Taylor, A. M., Shenkin, A., Fraser, W. D., Jarvis, J., Gallagher, J. A. and Sireau, N. (2011) Identification of alkaptonuria in the general population: A United Kingdom experience describing the challenges, possible solutions and persistent barriers. Journal of Inherited Metabolic Disease, 34 (3). pp. 723-730. ISSN 1573-2665

Full text not available from this repository. (Request a copy)

Abstract

Progress in research into rare diseases is challenging. This paper discusses strategies to identify individuals with the rare genetic disease alkaptonuria (AKU) within the general population. Strategies used included a questionnaire survey of general practitioners, a dedicated website and patient network contact, targeted family screening and medical conference targeting. Primary care physicians of the UK were targeted by a postal survey that involved mailing 11,151 UK GPs; the response rate was 18.2%. We have identified 75 patients in the UK with AKU by the following means: postal survey (23), targeted family screening (11), patient networks and the website (41). Targeting medical conferences (AKU, rare diseases, rheumatology, clinical biochemistry, orthopaedics, general practitioners) did not lead to new identification in the UK but helped identify overseas cases. We are now aware of 626 patients worldwide including newly identified non-UK people with AKU in the following areas: Slovakia (208), the rest of Europe (including Turkey) (79), North America (including USA and Canada) (110), and the rest of the world (154). A mechanism for identifying individuals with AKU in the general population-not just in the UK but worldwide-has been established. Knowledge of patients with AKU, both in the UK and outside, is often confined to establishing their location in a particular GP practice or association with a particular medical professional. Mere identification, however, does not always lead to full engagement for epidemiological research purposes or targeting treatment since further barriers exist.

Item Type:	Article
Faculty \ School:	Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups:	Faculty of Medicine and Health Sciences > Research Groups > Musculoskeletal Medicine Faculty of Medicine and Health Sciences > Research Centres > Metabolic Health
Depositing User:	Rhiannon Harvey
Date Deposited:	11 May 2011 10:45
Last Modified:	24 Sep 2024 09:00
URI:	https://ueaeprints.uea.ac.uk/id/eprint/30244
DOI:	10.1007/s10545-011-9282-z

Actions (login required)

View Item