RESOURCE USE ASSOCIATED WITH MANAGING LYSOSOMAL ACID LIPASE DEFICIENCY
Research type
Research Study
Full title
CHART REVIEW TO CHARACTERISE RESOURCE UTILISATION ASSOCIATED WITH MANAGING NON-INFANT LYSOSOMAL ACID LIPASE DEFICIENCY
IRAS ID
165920
Contact name
Julian Guest
Contact email
Sponsor organisation
Synageva BioPharma Ltd
Duration of Study in the UK
0 years, 7 months, 31 days
Research summary
Lysosomal acid lipase (LAL) deficiency is an inherited, genetic disorder described as an ‘autosomal recessive’ disease. This disorder leads to a deficiency of LAL enzyme activity which leads to a variety of clinical manifestations.
LAL deficiency (historically known as cholesteryl ester storage disease) affects both children and adults and has been estimated to affect 3-25 individuals per million worldwide. Median age of first symptoms is around 5 years of age, although many patients remain misdiagnosed or undiagnosed since symptoms and signs overlap with more common conditions.
There are 19 known living patients in the UK who are being managed at one of six treatment centres. There is also one known deceased patient who died in a road traffic accident and not from his/her disease. These patients will be the subject of the study.
Documented clinical consequences of LAL deficiency in patients around the world include hepatomegaly, splenomegaly, fibrosis in the liver, cirrhosis of the liver, liver transplant, premature atherosclerosis, premature cardiac events and death. However, there is no published information on the costs of managing patients with LAL deficiency, nor is there any rigorous non-case study information that we are aware of that documents the progression of the disease over the course of years.
The aim of this study is to estimate clinical progression and resource utilisation together with associated costs of managing children and adults with LAL deficiency using data retrospectively retrieved from the clinical notes and charts of every known UK-based LAL deficiency patient. Thus the study would provide a census on how the UK's physicians are managing ALL living and known LAL deficiency patients in the UK.
Publication of this study’s findings will contribute to the expanding awareness of the disease which should better enable diagnosis and treatment of patients worldwide.
REC name
North East - Tyne & Wear South Research Ethics Committee
REC reference
14/NE/1186
Date of REC Opinion
19 Nov 2014
REC opinion
Further Information Favourable Opinion