A Registration Study for Familial Hypercholesterolemia in Taiwan

NCT03152656 | Unknown DMC

• 1 other identifier: 201505031RIND
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

Familial hypercholesterolemia (FH) is an inherited disorder of lipoprotein metabolism, transmitted in an autosomal dominant manner and clinically characterized by elevated levels of total cholesterol (TC) and low-density lipoprotein (LDL) cholesterol, the presence of tendon xanthomas, and premature atherosclerosis. The homozygous form of familial hypercholesterolemia (HoFH) with autosomal dominant transmission, in which case both alleles of either LDLR, APOB, or PCSK9 gene are defective, is a rare genetic disorder with prevalence estimated to be one per million population. Large scale genetic screening for active FH cases finding has been performed in the Netherlands, Spain, Norway and Wales. However, the FH population and prevalence in Taiwan have never been formally studied. Patients are usually not under appropriate treatment owing to lack of standardized diagnostic tool and treatment strategy for FH. Moreover, with the emerging of new classes of LLTs, including microsomal triglyceride transfer protein (MTP) inhibitor, antisense oligonucleotide inhibitor, and PCSK9 inhibitors, even homozygous FH patients now have better chance to be treated to reach recommended treatment goals. Therefore, A National FH registry is needed to collect contemporary data on diagnosis, treatment and outcomes with long- term goals of improving diagnosis, management, and reduction of unnecessary cardiovascular events in FH population in Taiwan.

Conditions

Familial Hypercholesterolemia

Keywords

Familial hypercholesterolemia; total cholesterol; low-density lipoprotein cholesterol; tendon xanthomas; premature atherosclerosis

Outcome Measures

Primary Outcomes (1)

• Composite cardiovascular outcome

  The composite cardiovascular (CV) outcome will be any CV events (coronary, cerebral, or peripheral vascular diseases)

  3 years

Secondary Outcomes (1)

• With at least 1 cardiovascular risk factor.

  3 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Potentially eligible patients will be invited for a screening visit. Written informed consent will be obtained from all patients, and the study will be approved by the institutional review board. 1000 Subjects (estimated) with diagnosis of definite or probable FH, including both heterozygous and homozygous FH, using Taiwan FH Diagnostic Criteria will be recruited for enrollment and clinically followed for at least three years. Taiwan FH Diagnostic Criteria was revised from Dutch Lipid Clinic Network (DLCN) Criteria with consensus of experts in cardiology, genetic, and metabolism specialty, and published by Taiwan Society of Lipids \& Atherosclerosis in 2014.

You may qualify if:

• Taiwan FH Diagnostic Criteria was revised from Dutch Lipid Clinic Network (DLCN) Criteria with consensus of experts in cardiology, genetic, and metabolism specialty, and published by Taiwan Society of Lipids \& Atherosclerosis in 2014.

Sponsors & Collaborators

• National Taiwan University Hospital: lead

Study Sites (1)

NTUH

Taipei, Taiwan

RECRUITING

MeSH Terms

Conditions

Hyperlipoproteinemia Type II

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Chau C Wu, M.D., Ph.D.

  National Taiwan University Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Chau C Wu, M.D., Ph.D.

CONTACT

886-2-23123456; chauchungwu@ntu.edu.tw

Wan T Ke

CONTACT

886-2-23123456; ntuh33668810@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Year
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 11, 2017
• First Posted: May 15, 2017
• Study Start: July 1, 2015
• Primary Completion: June 1, 2018
• Study Completion: June 1, 2018
• Last Updated: May 15, 2017

Record last verified: 2016-09

Data Sharing

• IPD Sharing: Will share

Locations

TW (1)