InFocus France Epidemiological Study of Health Burden in Major Hypertriglyceridemia

NCT04223908 | Completed

• 1 other identifier: 2018-A01735-50
• Study Type: observational
• Target: 52
• Locations: 1 country
• Sites: 1

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.

Conditions

Familial Chylomicronemia Syndrome; Multifactorial Chylomicronemia Syndrome

Keywords

major hypertriglyceridemia; health burden

Outcome Measures

Primary Outcomes (1)

• abdominal pain

  Symptoms were assessed as present/absent within the 12 months prior to the study; if present, the patient was asked to rate their frequency (yearly, every 3 months, monthly, weekly, daily using a 5-point verbal numeric scale) and severity using a 7-point verbal numeric scale with 1=very mild and 7=very important.

  12 previous months record

Secondary Outcomes (2)

• dietary burden

  12 previous months records

• psychological burden

  12 previous months record

Study Arms (2)

FCS

patient with genetically documented familial chylomicronemia syndrome

Other: observational : questionnaries for assessment of health burden

MCS

patient with genetically or phenotypically documented multifactorial chylomicronemia syndrome

Other: observational : questionnaries for assessment of health burden

Interventions

observational : questionnaries for assessment of health burden 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.

FCS; MCS

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• legal restrictions

Sponsors & Collaborators

• New French Society of Atherosclerosis: lead
• Akcea Therapeutics: collaborator

Study Sites (1)

new French society of atherosclerosis

Saint-Maur-des-Fossés, 94 100, France

Location

MeSH Terms

Conditions

Familial hyperchylomicronemia syndrome

Study Officials

• Philippe Moulin

  New French Atherosclerosis Siciety

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Clinical professor / head department of endocrinology

Study Record Dates

• First Submitted: January 2, 2020
• First Posted: January 10, 2020
• Study Start: September 19, 2018
• Primary Completion: September 1, 2019
• Study Completion: September 1, 2019
• Last Updated: January 10, 2020

Record last verified: 2020-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF

Locations

FR (1)