Medical Complications in Familial and Multifactorial Chylomicronaemia Syndromes (ESTHYM)

Medical Complications in Familial and Multifactorial Chylomicronaemia Syndromes From a 10 Year Follow-up Linking Datasets Between Patient Medical Records and Patient Claims: the ESTHYM Study

A retrospective, systematic study of reimbursed healthcare costs over a 10 year period in patients suffering from Familial Chylomicronaemia Syndromes (FCS) or Multifactorial Chylomicronaemia Syndromes (MCS) in order to establish the relative healthcare burden of both syndromes by linking the Hospices Civils de Lyon (HCL) registry of FCS or MCS patients and data obtained from FCS or MCS patients followed in Paris, Nantes and Lyon to the French National Health System (NHS) healthcare claims database, the Système National d'Information Inter-Régimes de l'Assurance Maladie (SNIIR-AM).

A probabilistic approach will be used to link databases. This linkage will be based on the following variables: age, gender, date of discharge of any hospitalization, date of any imaging procedure.

This study will help to describe, in real life, the management of severe hyperglyceridaemia in France. In addition, the descriptive results will help obtain a better understanding of the patients suffering from this disease, the burden of the disease and the healthcare consumption linked to this disease. Even if this consumption of care has been relatively unexplored until this point, it is not negligible. The potential of merging genomics and claims data for cardiovascular research could help to identify ways to optimize disease

Study Overview

• Status: Completed
• Conditions: Familial Chylomicronemia Syndrome; Multifactorial Chylomicronemia Syndrome

• Study Type: Observational
• Enrollment (Actual): 140

Contacts and Locations

Study Locations

• France
  • Lyon, France
    • Hospices Civils de Lyon

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Patients male or female at least 18 years old having genetically documented familial or multifactorial chylomicronaemia syndrome.

Description

Inclusion Criteria:

• genetically documented FCS
• genetically documented MCS

Exclusion Criteria:

• None

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Familial chylomicronaemia syndrome (FCS); Patient homozygous or compound heterozygous mutation in lipoprotein lipase (LPL) gene; Patient homozygous or compound heterozygous mutation in any Apolipoprotein A5 (Apo A5), glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPI HBP1), lipase maturation factor 1 (LMF1), Apolipoprotein C2 (ApoC2), genes and heterozygous (het) mutation in LPL gene
Multifactorial chylomicronemia syndrome; Patient with heterozygous mutation in lipoprotein lipase (LPL) , Apolipoprotein A5 (Apo AV), GPI HBP1, LMF1, ApoC2 genes and any additional combination of functional variant; Patient with any additional combination of functional variant in LPL gene Apo AV, glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPI HBP1), lipase maturation factor 1 (LMF1), Apolipoprotein C2 (ApoC2) genes

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incidence of Acute Pancreatitis, Ischemic Cardiovascular Disease and any additional co-morbidity	outcomes obtained by anonymous linkage with the Système National des Données de Santé (SNDS) national data base of any health resource consumption (> 40x106 subjects exhaustive compilation, linkage with Programme de médicalisation des systèmes d'information (PMSI) (diagnosis data base) and death registry)	2006-2016 (10 year follow-up)

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon
• Investigators: Principal Investigator: Philippe Moulin, MD, Hospices Civils de Lyon

Publications and helpful links

General Publications

• Belhassen M, Van Ganse E, Nolin M, Berard M, Bada H, Bruckert E, Krempf M, Rebours V, Valero R, Moulin P. 10-Year Comparative Follow-up of Familial versus Multifactorial Chylomicronemia Syndromes. J Clin Endocrinol Metab. 2021 Mar 8;106(3):e1332-e1342. doi: 10.1210/clinem/dgaa838.

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2018
• Primary Completion (Actual): December 1, 2018
• Study Completion (Actual): February 1, 2019

Study Registration Dates

• First Submitted: April 9, 2019
• First Submitted That Met QC Criteria: April 9, 2019
• First Posted (Actual): April 11, 2019

Study Record Updates

• Last Update Posted (Actual): April 11, 2019
• Last Update Submitted That Met QC Criteria: April 9, 2019
• Last Verified: April 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Disease; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Hyperlipidemias; Dyslipidemias; Lipid Metabolism, Inborn Errors; Hyperlipoproteinemias; Syndrome; Hyperlipoproteinemia Type I
• Other Study ID Numbers: 69HCL17_0864

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No