Literature DB >> 27055967

Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement.

Robert D Shamburek1, Rebecca Bakker-Arkema2, Bruce J Auerbach2, Brian R Krause2, Reynold Homan2, Marcelo J Amar3, Lita A Freeman3, Alan T Remaley3.   

Abstract

BACKGROUND: Humans with familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) have extremely low or undetectable high-density lipoprotein cholesterol (HDL-C) levels and by early adulthood develop many manifestations of the disorder, including corneal opacities, anemia, and renal disease.
OBJECTIVE: To determine if infusions of recombinant human LCAT (rhLCAT) could reverse the anemia, halt progression of renal disease, and normalize HDL in FLD.
METHODS: rhLCAT (ACP-501) was infused intravenously over 1 hour on 3 occasions in a dose optimization phase (0.3, 3.0, and 9.0 mg/kg), then 3.0 or 9.0 mg/kg every 1 to 2 weeks for 7 months in a maintenance phase. Plasma lipoproteins, lipids, LCAT levels, and several measures of renal function and other clinical labs were monitored.
RESULTS: LCAT concentration peaked at the end of each infusion and decreased to near baseline over 7 days. Renal function generally stabilized or improved and the anemia improved. After infusion, HDL-C rapidly increased, peaking near normal in 8 to 12 hours; analysis of HDL particles by various methods all revealed rapid sequential disappearance of preβ-HDL and small α-4 HDL and appearance of normal α-HDL. Low-density lipoprotein cholesterol increased more slowly than HDL-C. Of note, triglyceride routinely decreased after meals after infusion, in contrast to the usual postprandial increase in the absence of rhLCAT infusion.
CONCLUSIONS: rhLCAT infusions were well tolerated in this first-in-human study in FLD; the anemia improved, as did most parameters related to renal function in spite of advanced disease. Plasma lipids transiently normalized, and there was rapid sequential conversion of small preβ-HDL particles to mature spherical α-HDL particles. Published by Elsevier Inc.

Entities:  

Keywords:  Cholesterol; HDL; LCAT; Lecithin cholesterol acyltransferase; Lecithin cholesterol acyltransferase deficiency; Lipoprotein-X; Recombinant enzyme replacement; Renal disease; Triglyceride

Mesh:

Substances:

Year:  2015        PMID: 27055967      PMCID: PMC4826469          DOI: 10.1016/j.jacl.2015.12.007

Source DB:  PubMed          Journal:  J Clin Lipidol        ISSN: 1876-4789            Impact factor:   4.766


  19 in total

1.  Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency.

Authors:  Catherine L Weber; Jiri Frohlich; Jian Wang; Robert A Hegele; Clifford Chan-Yan
Journal:  Nephrol Dial Transplant       Date:  2007-04-23       Impact factor: 5.992

2.  Recurrence of lecithin cholesterol acyltransferase deficiency after kidney transplantation.

Authors:  V Panescu; Y Grignon; D Hestin; G Rostoker; L Frimat; E Renoult; J Gamberoni; G Grignon; M Kessler
Journal:  Nephrol Dial Transplant       Date:  1997-11       Impact factor: 5.992

Review 3.  Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature.

Authors:  Bijan Roshan; Om P Ganda; Ranil Desilva; Rose B Ganim; Edmund Ward; Sarah D Haessler; Eliana Y Polisecki; Bela F Asztalos; Ernst J Schaefer
Journal:  J Clin Lipidol       Date:  2011-08-23       Impact factor: 4.766

Review 4.  Lecithin cholesterol acyltransferase: an anti- or pro-atherogenic factor?

Authors:  Xavier Rousset; Robert Shamburek; Boris Vaisman; Marcelo Amar; Alan T Remaley
Journal:  Curr Atheroscler Rep       Date:  2011-06       Impact factor: 5.113

Review 5.  The plasma lecithins:cholesterol acyltransferase reaction.

Authors:  J A Glomset
Journal:  J Lipid Res       Date:  1968-03       Impact factor: 5.922

6.  Creatinine elevation in patients receiving amiodarone correlates with serum amiodarone concentration.

Authors:  P T Pollak; A D Sharma; S G Carruthers
Journal:  Br J Clin Pharmacol       Date:  1993-08       Impact factor: 4.335

7.  Human lecithin:cholesterol acyltransferase deficiency: in vivo kinetics of low-density lipoprotein and lipoprotein-X.

Authors:  Masato Nishiwaki; Katsunori Ikewaki; Giovanni Bader; Hassan Nazih; Minna Hannuksela; Alan T Remaley; Robert D Shamburek; H Bryan Brewer
Journal:  Arterioscler Thromb Vasc Biol       Date:  2006-03-16       Impact factor: 8.311

8.  Corneal opacity in LCAT disease.

Authors:  D G Cogan; H S Kruth; M B Datilis; N Martin
Journal:  Cornea       Date:  1992-11       Impact factor: 2.651

9.  In vivo imaging of the cornea in a patient with lecithin-cholesterol acyltransferase deficiency.

Authors:  Pat-Michael Palmiero; Zaher Sbeity; Jeffrey Liebmann; Robert Ritch
Journal:  Cornea       Date:  2009-10       Impact factor: 2.651

10.  Role of LCAT in HDL remodeling: investigation of LCAT deficiency states.

Authors:  Bela F Asztalos; Ernst J Schaefer; Katalin V Horvath; Shizuya Yamashita; Michael Miller; Guido Franceschini; Laura Calabresi
Journal:  J Lipid Res       Date:  2006-12-20       Impact factor: 5.922

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  26 in total

1.  Plasma lipoprotein-X quantification on filipin-stained gels: monitoring recombinant LCAT treatment ex vivo.

Authors:  Lita A Freeman; Robert D Shamburek; Maureen L Sampson; Edward B Neufeld; Masaki Sato; Sotirios K Karathanasis; Alan T Remaley
Journal:  J Lipid Res       Date:  2019-02-26       Impact factor: 5.922

2.  Effects of Replacing Dietary Monounsaturated Fat With Carbohydrate on HDL (High-Density Lipoprotein) Protein Metabolism and Proteome Composition in Humans.

Authors:  Allison B Andraski; Sasha A Singh; Lang Ho Lee; Hideyuki Higashi; Nathaniel Smith; Bo Zhang; Masanori Aikawa; Frank M Sacks
Journal:  Arterioscler Thromb Vasc Biol       Date:  2019-09-26       Impact factor: 8.311

3.  LCAT Enzyme Replacement Therapy Reduces LpX and Improves Kidney Function in a Mouse Model of Familial LCAT Deficiency.

Authors:  Boris L Vaisman; Edward B Neufeld; Lita A Freeman; Scott M Gordon; Maureen L Sampson; Milton Pryor; Emily Hillman; Milton J Axley; Sotirios K Karathanasis; Alan T Remaley
Journal:  J Pharmacol Exp Ther       Date:  2018-12-18       Impact factor: 4.030

4.  LCAT deficiency as a cause of proteinuria and corneal opacification.

Authors:  Enrique Morales; Montserrat Morales; Marina Alonso; Beatriz Sarmiento
Journal:  BMJ Case Rep       Date:  2018-03-13

5.  Molecular basis for activation of lecithin:cholesterol acyltransferase by a compound that increases HDL cholesterol.

Authors:  Kelly A Manthei; Shyh-Ming Yang; Bolormaa Baljinnyam; Louise Chang; Alisa Glukhova; Wenmin Yuan; Lita A Freeman; David J Maloney; Anna Schwendeman; Alan T Remaley; Ajit Jadhav; John Jg Tesmer
Journal:  Elife       Date:  2018-11-27       Impact factor: 8.140

Review 6.  Diagnosis and treatment of high density lipoprotein deficiency.

Authors:  Ernst J Schaefer; Pimjai Anthanont; Margaret R Diffenderfer; Eliana Polisecki; Bela F Asztalos
Journal:  Prog Cardiovasc Dis       Date:  2016-08-24       Impact factor: 8.194

Review 7.  From High-Density Lipoprotein Cholesterol to Measurements of Function: Prospects for the Development of Tests for High-Density Lipoprotein Functionality in Cardiovascular Disease.

Authors:  Frank M Sacks; Majken K Jensen
Journal:  Arterioscler Thromb Vasc Biol       Date:  2018-01-25       Impact factor: 8.311

8.  Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers.

Authors:  I Castro-Ferreira; Rute Carmo; Sérgio Estrela Silva; Otília Corrêa; Susana Fernandes; Susana Sampaio; Rodrigues-Pereira Pedro; Augusta Praça; João Paulo Oliveira
Journal:  JIMD Rep       Date:  2017-10-06

9.  Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Authors:  Andrew S Geller; Eliana Y Polisecki; Margaret R Diffenderfer; Bela F Asztalos; Sotirios K Karathanasis; Robert A Hegele; Ernst J Schaefer
Journal:  J Lipid Res       Date:  2018-10-17       Impact factor: 5.922

10.  Lecithin:Cholesterol Acyltransferase Activation by Sulfhydryl-Reactive Small Molecules: Role of Cysteine-31.

Authors:  Lita A Freeman; Stephen J Demosky; Monika Konaklieva; Rostislav Kuskovsky; Angel Aponte; Alice F Ossoli; Scott M Gordon; Ross F Koby; Kelly A Manthei; Min Shen; Boris L Vaisman; Robert D Shamburek; Ajit Jadhav; Laura Calabresi; Marjan Gucek; John J G Tesmer; Rodney L Levine; Alan T Remaley
Journal:  J Pharmacol Exp Ther       Date:  2017-06-02       Impact factor: 4.030

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