Research on the Frequency of Genetically Confirmed Familial Hypercholesterolemia

Research on the Frequency of Genetically Confirmed Familial Hypercholesterolemia - Research on the Frequency of Genetically Confirmed Familial Hypercholesterolemia

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000039852

Enrollment

Registered

2020-04-01

Start date

2020-04-01

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Familial Hypercholesterolemia

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Based on the Clinical Practice Guidelines for FH in 2017, patients satisfying the following items 1) and 2), as well as their parents, brothers and sisters, etc. (blood relatives within the 6th degree of relationship, spouses, or relatives within the 3rd degree of relationship by marriage) will be selected from the patient population who have undergone PCI treatment in the Department of Cardiology, and their participation in the research will be requested. 1) Past medical history of premature CVD (premature: <55 years of age for males and <65 years of age for females), And 2) A blood LDL-C value of >=70 mg/dL after treatment with existing lipid-lowering medications. Since this research is not an epidemiological study, a control group has not been established.

Exclusion criteria

Exclusion criteria: Not applicable.

Design outcomes

Primary

Measure	Time frame
Genetic mutation via genetic testing Target genes: LDLR, PCSK9, STAP1, APOB, APOE, and LDLRAP1	—

Countries

Japan

Contacts

Public ContactYOSHINORI Katsumata

Keio University Department of Cardiology

goodcentury21@keio.jp0333531211

Outcome results