InFocus France Epidemiological Study of Health Burden in Major Hypertriglyceridemia

NCT ID: NCT04223908

Last Updated: 2020-01-10

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 52 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2018-09-19
• Study Completion Date: 2019-09-01

Brief Summary

FCS and MCS patients recruited from 7 academic reference centers were invited to answer a paper or a web questionnaire. Questions encompassed demographics, physical, cognitive and mental symptoms, health care circuit, past and current disease management, satisfaction regarding healthcare providers and impact on daily life.

Detailed Description

cross-sectional study involving a sample of FCS and MCS patients in 1:1 ratio. The study was run in seven academic reference centers in France. Adult patients with documented history of fasting TG > 10 mmol/L (885 mg/dL) were recruited. Patients had to be genetically characterized or MCS patients had a MCS score ≤ 9 [11]. Group sample sizes of 19 FCS and 19 MCS have been calculated to achieve an at least 80% power to detect a 40% difference in the frequency of abdominal pain assuming that 90% of FCS patients would complain about abdominal pain.

The study protocol was approved by a nationally appointed ethics committee (Comité de Protection des Personnes - Ile de France 5) under number 18040. The study protocol complied with the ethical guidelines of the Declaration of Helsinki and the French Bioethics Law Jarde. The data management complied with the CNIL requirement. Each patient was informed about the aims and constraints of the study and signed a non-opposition form prior to any study procedure.

Health Burden assessment The French IN-FOCUS study was designed to capture current and retrospective data in FCS or MCS. Patients were called by the participating centers and were proposed to answer a paper questionnaire or to connect to a web-based questionnaire The questionnaire was divided into sections specifically assessing various domains of their experience: demographic data, signs, symptoms and complications of the disease, healthcare circuit, management, relationship with healthcare providers, and burden of the disease on daily life. (Details are available as supplementary material S1). The questionnaire focused on symptoms because the interest of quality of life assessment tools is debated in rare diseases with episodic manifestations. Indeed, most of these tools refer to a limited recall period.

Data analysis The statistical analysis was performed by Soladis (Lyon, France) using the Statistical Analysis System (SAS) software 9.4 (SAS Institute, Cary, NC, USA). Continuous variables were summarized by the number of observed data, mean, standard deviation (SD), median, first and third quartiles. Categorical variables were described as numbers and percentages calculated on the number of observed data. FCS and MCS subjects were compared using Student's t test or U Mann-Whitney's test. Categorical variables were compared by the chi squared test or the Fisher's exact test. Tests were two-sided and the significance threshold was set at 5%. No adjustment of the Type 1 error risk was made for multiplicity. Impact of history of AP was evaluated in a multivariable model (logistic regression for binary variables, ordinal logistic regression for ordinal variables) including the type of disease (FCS or MCS), history of AP and the interaction between these two predictors.

Conditions

Familial Chylomicronemia Syndrome; Multifactorial Chylomicronemia Syndrome

Study Design

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

Study Groups

FCS

patient with genetically documented familial chylomicronemia syndrome

observational : questionnaries for assessment of health burden

Intervention Type: OTHER

The French IN-FOCUS study was designed to capture current and retrospective data in FCS or MCS. Patients were called by the participating centers and were proposed to answer a paper questionnaire or to connect to a web-based questionnaire The questionnaire was divided into sections specifically assessing various domains of their experience: demographic data, signs, symptoms and complications of the disease, healthcare circuit, management, relationship with healthcare providers, and burden of the disease on daily life. (Details are available as supplementary material S1). The questionnaire focused on symptoms because the interest of quality of life assessment tools is debated in rare diseases with episodic manifestations. Indeed, most of these tools refer to a limited recall period.

MCS

patient with genetically or phenotypically documented multifactorial chylomicronemia syndrome

observational : questionnaries for assessment of health burden

Intervention Type: OTHER

The French IN-FOCUS study was designed to capture current and retrospective data in FCS or MCS. Patients were called by the participating centers and were proposed to answer a paper questionnaire or to connect to a web-based questionnaire The questionnaire was divided into sections specifically assessing various domains of their experience: demographic data, signs, symptoms and complications of the disease, healthcare circuit, management, relationship with healthcare providers, and burden of the disease on daily life. (Details are available as supplementary material S1). The questionnaire focused on symptoms because the interest of quality of life assessment tools is debated in rare diseases with episodic manifestations. Indeed, most of these tools refer to a limited recall period.

Interventions

observational : questionnaries for assessment of health burden

The French IN-FOCUS study was designed to capture current and retrospective data in FCS or MCS. Patients were called by the participating centers and were proposed to answer a paper questionnaire or to connect to a web-based questionnaire The questionnaire was divided into sections specifically assessing various domains of their experience: demographic data, signs, symptoms and complications of the disease, healthcare circuit, management, relationship with healthcare providers, and burden of the disease on daily life. (Details are available as supplementary material S1). The questionnaire focused on symptoms because the interest of quality of life assessment tools is debated in rare diseases with episodic manifestations. Indeed, most of these tools refer to a limited recall period.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• any adult FCS patient genetically documented any adult MCS patient genetically or phenotypically documented

Exclusion Criteria

• legal restrictions

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 100 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Akcea Therapeutics

INDUSTRY

Sponsor Role: collaborator

New French Society of Atherosclerosis

OTHER

Sponsor Role: lead

Responsible Party

Philippe Moulin

Clinical professor / head department of endocrinology

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Philippe Moulin

Role: STUDY_CHAIR

New French Atherosclerosis Siciety

Locations

new French society of atherosclerosis

Saint-Maur-des-Fossés, , France

Countries

France

Other Identifiers

2018-A01735-50

Identifier Type: -

Identifier Source: org_study_id