The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency.

Abstract

A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera®) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan. The aim of this publication is to introduce the GENIALL Registry within a structured literature review of registries in rare genetic lipid disorders. A total of 11 relevant initiatives/registries were identified (homozygous Familial Hypercholesterolemia (hoFH) [n = 5]; LPLD [n = 1]; Lysosomal Acid Lipase Deficiency [LALD, n = 1], detection of mutations in genetic lipid disorders [n = 4]). Besides one product registry in hoFH and the LALD registry, all other initiatives are local or country-specific. GENIALL is the first global prospective registry in LPLD that will collect physician and patient generated data on the natural course of LPLD, as well as long-term outcomes of gene therapy.

CONCLUSION:

There is a limited number of international initiatives focusing on the natural course of specific rare genetic lipid disorders. The GENIALL LPLD Registry could be the first step towards a future broader global initiative that collects data related to familial chylomicronemia syndrome and their underlying genetic causes.

• Authors: Elisabeth Steinhagen-Thiessen, Erik Stroes, Handrean Soran, Colin Johnson, Philippe Moulin, Giorgio Iotti, Marco Zibellini, Bas Ossenkoppele, Michaela Dippel, Maurizio R Averna, GENIALL Investigators
• Journal: Atherosclerosis (Atherosclerosis) Vol. 262 Pg. 146-153 (07 2017) ISSN: 1879-1484 [Electronic] Ireland
• PMID: 28284702 (Publication Type: Journal Article, Review, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2016. Published by Elsevier B.V.

Chemical References

• LPL protein, human
• Lipoprotein Lipase

Topics

• Genetic Predisposition to Disease
• Humans
• Hyperlipoproteinemia Type I (diagnosis, enzymology, epidemiology, genetics)
• Lipid Metabolism, Inborn Errors (diagnosis, enzymology, epidemiology, genetics)
• Lipoprotein Lipase (genetics)
• Phenotype
• Prognosis
• Rare Diseases (diagnosis, enzymology, epidemiology, genetics)
• Registries
• Risk Factors