title: 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.
  
  
  
  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.affiliation: Lipid Clinic, Charité, University of Berlin, Germany. Electronic address: elisabeth.steinhagen-thiessen@charite.de.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Steinhagen-Thiessen
authors.affiliation: Department of Vascular Medicine, Amsterdam Medical Center, The Netherlands.
authors.forename: Erik
authors.initials: E
authors.lastname: Stroes
authors.affiliation: Central Manchester University Hospital NHS Foundation Trust, UK.
authors.forename: Handrean
authors.initials: H
authors.lastname: Soran
authors.affiliation: University Surgery, University Hospital Southampton, UK.
authors.forename: Colin
authors.initials: C
authors.lastname: Johnson
authors.affiliation: Fédération d'Endocrinologie Diabétologie Maladies Métaboliques, Nutrition, Hôpital Cardiovasculaire Louis Pradel, Lyon, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Moulin
authors.affiliation: Chiesi Farmaceutici, Parma, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Iotti
authors.affiliation: Chiesi Farmaceutici, Parma, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Zibellini
authors.affiliation: UniQure B.V., Amsterdam, The Netherlands.
authors.forename: Bas
authors.initials: B
authors.lastname: Ossenkoppele
authors.affiliation: UniQure B.V., Amsterdam, The Netherlands.
authors.forename: Michaela
authors.initials: M
authors.lastname: Dippel
authors.affiliation: Centro regionale delle malattie rare del metabolismo dell' adulto (CERMMET), Policlinico Universitario "P. Giaccone", Palermo, Italy.
authors.forename: Maurizio R
authors.initials: MR
authors.lastname: Averna
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000175:diagnosis / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D035583:Rare Diseases / Q000175:diagnosis / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D012042:Registries; D012307:Risk Factors
chemical_list: C548261:LPL protein, human; D008071:Lipoprotein Lipase
keywords: Alipogene tiparvovec; Familial chylomicronemia syndrome; GENIALL; Gene therapy; Hyperchylomicronemia; Hypertriglyceridemia; Lipoprotein lipase deficiency (LPLD); Orphan disease; Registry