Familial Chylomicronemia SyndromeESTHYMNCT03912181
Medical Complications in Familial and Multifactorial Chylomicronaemia Syndromes
An observational study of Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome, run by Hospices Civils de Lyon at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Familial Chylomicronemia Syndrome, Multifactorial Chylomicronemia Syndrome
- How many people
- 140 participants
- Where
- 1 siteFrance
- Study dates
- 1 Mar 2018to 1 Feb 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients male or female at least 18 years old having genetically documented familial or multifactorial chylomicronaemia syndrome.
Who may be able to join
- genetically documented FCS
- genetically documented MCS
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
About this study
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
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
- Medical subject headings
- Familial hyperchylomicronemia syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: 2006-2016 (10 year follow-up)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Apr 2019
- Study start1 Mar 2018
- Primary completion1 Dec 2018
- Study completion1 Feb 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Familial Chylomicronemia SyndromeStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 140 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Philippe Moulin, MD, Principal investigator, Hospices Civils de Lyon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03912181
- Sponsor's protocol ID
- 69HCL17_0864
- Acronym
- ESTHYM
- Status last verified
- Apr 2019
- First submitted
- 9 Apr 2019
- Last updated
- 11 Apr 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
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.
PubMed 33221907
Study at a glance
From the registry record, last updated by the sponsor on 11 Apr 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT03912181
- Acronym / sponsor ID
- ESTHYM / 69HCL17_0864
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 140 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 1 Mar 2018 (actual)
- Primary completion
- 1 Dec 2018 (actual)
- Study completion
- 1 Feb 2019 (actual)
- First posted
- 11 Apr 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients male or female at least 18 years old having genetically documented familial or multifactorial chylomicronaemia syndrome.
Key inclusion criteria (2 listed)
- genetically documented FCS
- genetically documented MCS
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Apr 2019.
- Derived from this study: PubMed 33221907Belhassen 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Philippe Moulin, MD principal investigator
Hospices Civils de Lyon
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome, run by Hospices Civils de Lyon at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 11 Apr 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of Acute Pancreatitis, Ischemic Cardiovascular Disease and any additional co-morbidity (time frame: 2006-2016 (10 year follow-up)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03912181, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Apr 2019.