Highlights
- •First structured review of registries in rare genetic lipid disorders.
- •Challenges and lessons on setting up registries in orphan disease provided.
- •GENIALL is the first international registry in Lipoprotein Lipase Deficiency (LPLD).
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.
Keywords
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Article Info
Publication History
Published online: August 21, 2016
Accepted:
August 19,
2016
Received in revised form:
July 15,
2016
Received:
March 18,
2016
Identification
Copyright
© 2016 Published by Elsevier Ireland Ltd.
