Genetic Causes of Familial Hypercholesterolemia | NCT04101149

Studies
Genetic Causes of Familial Hypercholesterolemia

NCT04101149

Sponsor

Region Örebro County

Status

Active, not recruiting

Last Update Posted

Apr 8, 2025Actual

Enrollment

150Estimated

Phase

Not provided

Conditions

Familial Hypercholesterolemia

Interventions

No intervention

Countries

Sweden

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Apr 2025

Overall Recruitment Status or Expanded Access Status

Active, not recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 1, 2019Actual

Primary Completion Date

Dec 2025Estimated

Completion Date

Dec 2045Estimated

First Submitted Date

Sep 20, 2019

First Submission Date that Met QC Criteria

Sep 20, 2019

First Posted Date

Sep 24, 2019Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 4, 2025

Last Update Posted Date

Apr 8, 2025Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

FDAAA801 Violation

Not provided

Description Module

Brief Summary

Familial hypercholesterolemia (FH) is a common disease. The genetic background to FH is not yet fully understood. In the present prospective cohort study we aim to study the association between different clinical characteristics, gene mutations and prognosis.

Detailed Description

In this prospective observational cohort study of patients with high clinical suspicion of familial hypercholesterolemia (FH) we aim to study the association between different clinical characteristics, gene mutations and prognosis.

The included patients will undergo physical examination and extended blood sampling. DNA will be extracted and used for both whole genome sequencing and investigation of both known- , unknown- and suspected mutations associated with FH.

The patients will be followed in for 15 years in the Swedish patients registry and the Swedish cause of death registry.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

150Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Group 1		Patients with high clinical suspicion of familial hypercholesterolemia. No intervention.	Other: No intervention

Interventions

Name	Type	Description	Arm Group Labels	Other Names
No intervention	Other	No intervention.	Group 1

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Prevalence of mutations.	The prevalence of known and newly discovered mutations associated with FH in the study population.	2 years

Secondary Outcomes

Measure	Description	Time Frame
Prognosis, composite endpoint.	Time to death (cardiovascular and total), hospitalization due to acute myocardial infarction, unstable angina, heart failure or stroke.	10 years
Prognosis, individual endpoint.

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Age 8 years or older.
Clinical suspicion of FH
Dutch Lipid Clinic Network Score of at least four or a first grade relative with a genetic deviation that may be associated with FH.

Exclusion Criteria:

1) Age below 8 years.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

8 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

All patients with suspected FH referred to the cardiac clinic at Orebro University hospital and their first grade relatives.

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Anna M Nordenskjöld, MD, PhD	Örebro University, Sweden	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Örebro University hospital		Örebro		701 85	Sweden

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D006938	Hyperlipoproteinemia Type II

Ancestor Terms

ID	Term
D008052	Lipid Metabolism, Inborn Errors
D008661	Metabolism, Inborn Errors
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Browse Leaves

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Browse Branches

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