Medical Complications in Familial and Multifactorial Chylomicronaemia Syndromes

NCT ID: NCT03912181

Last Updated: 2019-04-11

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 140 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2018-03-01
• Study Completion Date: 2019-02-01

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

Conditions

Familial Chylomicronemia Syndrome; Multifactorial Chylomicronemia Syndrome

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

Study Groups

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

No interventions assigned to this group

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

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• genetically documented FCS
• genetically documented MCS

Exclusion Criteria

• None

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Hospices Civils de Lyon

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Philippe Moulin, MD

Role: PRINCIPAL_INVESTIGATOR

Hospices Civils de Lyon

Locations

Hospices Civils de Lyon

Lyon, , France

Countries

France

References

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.

Reference Type: DERIVED

PMID: 33221907 (View on PubMed)

Other Identifiers

69HCL17_0864

Identifier Type: -

Identifier Source: org_study_id