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Medical Complications in Familial and Multifactorial Chylomicronaemia Syndromes (ESTHYM)

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ClinicalTrials.gov Identifier: NCT03912181
Recruitment Status : Completed
First Posted : April 11, 2019
Last Update Posted : April 11, 2019
Sponsor:
Information provided by (Responsible Party):
Hospices Civils de Lyon

Brief Summary:

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


Condition or disease
Familial Chylomicronemia Syndrome Multifactorial Chylomicronemia Syndrome

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Study Type : Observational
Actual Enrollment : 140 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: 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
Actual Study Start Date : March 1, 2018
Actual Primary Completion Date : December 1, 2018
Actual Study Completion Date : February 1, 2019


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



Primary Outcome Measures :
  1. Incidence of Acute Pancreatitis, Ischemic Cardiovascular Disease and any additional co-morbidity [ Time Frame: 2006-2016 (10 year follow-up) ]
    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)



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients male or female at least 18 years old having genetically documented familial or multifactorial chylomicronaemia syndrome.
Criteria

Inclusion Criteria:

  • genetically documented FCS
  • genetically documented MCS

Exclusion Criteria:

  • None

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03912181


Locations
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France
Hospices Civils de Lyon
Lyon, France
Sponsors and Collaborators
Hospices Civils de Lyon
Investigators
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Principal Investigator: Philippe Moulin, MD Hospices Civils de Lyon

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Responsible Party: Hospices Civils de Lyon
ClinicalTrials.gov Identifier: NCT03912181     History of Changes
Other Study ID Numbers: 69HCL17_0864
First Posted: April 11, 2019    Key Record Dates
Last Update Posted: April 11, 2019
Last Verified: April 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Hyperlipoproteinemia Type I
Syndrome
Disease
Pathologic Processes
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Hyperlipoproteinemias
Hyperlipidemias
Dyslipidemias
Lipid Metabolism Disorders
Metabolic Diseases