Medical Complications in Familial and Multifactorial Chylomicronaemia Syndromes

NCT03912181 | Completed

• 1 other identifier: 69HCL17_0864
• Study Type: observational
• Target: 140
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (1)

• 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)

Study Arms (2)

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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

• genetically documented FCS
• genetically documented MCS

You may not qualify if:

• None

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Hospices Civils de Lyon

Lyon, France

Location

Related Publications (1)

• 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.

  PMID: 33221907 DERIVED

MeSH Terms

Conditions

Familial hyperchylomicronemia syndrome

Study Officials

• Philippe Moulin, MD

  Hospices Civils de Lyon

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 9, 2019
• First Posted: April 11, 2019
• Study Start: March 1, 2018
• Primary Completion: December 1, 2018
• Study Completion: February 1, 2019
• Last Updated: April 11, 2019

Record last verified: 2019-04

Locations

FR (1)