Establishment of a registry to contribute to the prevention of cardiovascular events in pediatric patients with suspected or confirmed familial hypercholesterolemia and their families.

Establishment of a registry to contribute to the prevention of cardiovascular events in pediatric patients with suspected or confirmed familial hypercholesterolemia and their families. - Establishment of a registry to contribute to the prevention of cardiovascular events in pediatric patients with suspected or confirmed familial hypercholesterolemia and their families.

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000061103

Enrollment

800

Registered

2026-03-30

Start date

2025-11-01

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: Among patients and children identified with elevated LDL-C through the Kagawa Prefecture pediatric lifestyle disease prevention screening program and other health checkups, as well as their family members, those who are diagnosed with or suspected of having familial hypercholesterolemia (FH) according to the most recent diagnostic criteria of the Japanese Atherosclerosis Society (JAS) guidelines for FH or pediatric FH will be evaluated. The fulfillment of the latest guideline criteria will be confirmed through interviews with the patients or children, or directly with their family members, as well as through clinical examination.

Exclusion criteria

Exclusion criteria: Patients and children diagnosed with hyper LDL cholesterolemia other than familial hypercholesterolemia (FH), including secondary causes of elevated LDL-C, will be excluded. The diagnosis of secondary hyper LDL cholesterolemia will be based on the identification of underlying conditions such as diabetes mellitus, hypothyroidism, nephrotic syndrome, and cholestatic liver disease or medication-related causes (e.g., corticosteroids), assessed through blood tests and medication history.

Design outcomes

Primary

Measure	Time frame
Age Sex Medical history Family history of familial hypercholesterolemia (FH) or premature coronary artery disease Height Weight Foot size Blood pressure and heart rate Body mass index (BMI) Presence of tendon xanthomas or cutaneous nodular xanthomas Lipid-lowering therapy (medication status): type of medication, start date, and discontinuation date Lipid-lowering therapy (adverse effects): type of adverse effects (e.g., liver dysfunction, elevated creatine phosphokinase (CPK), others) Carotid ultrasonography findings: intima-media thickness (IMT), presence of carotid plaque, and carotid stenosis Pulse wave velocity / arterial stiffness assessment Achilles tendon assessment (ultrasonography and/or X-ray) Presence of cardiovascular events Genetic testing Laboratory tests (blood and urine analyses)	—

Measure

Time frame

Age Sex Medical history Family history of familial hypercholesterolemia (FH) or premature coronary artery disease Height Weight Foot size Blood pressure and heart rate Body mass index (BMI) Presence of tendon xanthomas or cutaneous nodular xanthomas Lipid-lowering therapy (medication status): type of medication, start date, and discontinuation date Lipid-lowering therapy (adverse effects): type of adverse effects (e.g., liver dysfunction, elevated creatine phosphokinase (CPK), others) Carotid ultrasonography findings: intima-media thickness (IMT), presence of carotid plaque, and carotid stenosis Pulse wave velocity / arterial stiffness assessment Achilles tendon assessment (ultrasonography and/or X-ray) Presence of cardiovascular events Genetic testing Laboratory tests (blood and urine analyses)

—

Countries

Japan

Contacts

Public ContactTomoko Inoue

Faculty of Medicine, Kagawa University Department of Cardiorenal and Cerebrovascular Medicine

inoue.tomoko@kagawa-u.ac.jp087-891-2150

Outcome results