Journal article
The role of patient registries for rare genetic lipid disorders
Current Opinion in Lipidology, Vol.29(2), pp.156-162
2018
Abstract
Purpose of review
We review the role, utility and current status of patient registries for rare genetic lipid disorders.
Recent findings
The creation and maintenance of rare genetic lipid disorder patient registries is critical for disease monitoring, improving clinical best practice, facilitating research and enabling the development of novel therapeutics. An open-source disease registry platform, termed the Rare Disease Registry Framework, has been developed, optimized and deployed for homozygous familial hypercholesterolemia. A global disease-specific registry for lipoprotein lipase deficiency (LPLD), GENetherapy In the mAnagement of Lipoprotein Lipase deficiency, has been established with the aim of enrolling 20–40% of LPLD patients worldwide and will study the natural history of LPLD as well as therapeutic response to the gene therapy alipogene tiparvovec. Similarly, a registry for lysosomal acid lipase deficiency patients in Europe and the United States is studying the clinical outcomes of the enzyme-replacement therapy sebelipase alfa.
Summary
There are currently few disease-specific rare lipid disorder patient registries. The very nature of rare genetic lipid disorders would suggest that larger national or international registries are necessary to capture clinical data on a sufficient number of patients to provide insight into the prevalence and natural history of these conditions. Furthermore, these registries can help to identify and address deficiencies in current diagnostic and management practices, and facilitate clinical trials of new therapies.
Details
- Title
- The role of patient registries for rare genetic lipid disorders
- Authors/Creators
- D.M. Ng (Author/Creator)A.J. Hooper (Author/Creator)M.I. Bellgard (Author/Creator)J.R. Burnett (Author/Creator)
- Publication Details
- Current Opinion in Lipidology, Vol.29(2), pp.156-162
- Publisher
- Wolters Kluwer
- Identifiers
- 991005543383007891
- Murdoch Affiliation
- Centre for Comparative Genomics
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.68 Lipids
- 1.68.69 Lipoprotein Metabolism
- Web Of Science research areas
- Biochemistry & Molecular Biology
- Endocrinology & Metabolism
- Peripheral Vascular Disease
- ESI research areas
- Clinical Medicine