UMIN-CTR Clinical Trial
| Unique ID issued by UMIN | UMIN000061103 |
|---|---|
| Receipt number | R000069915 |
| Scientific Title | Establishment of a registry to contribute to the prevention of cardiovascular events in pediatric patients with suspected or confirmed familial hypercholesterolemia and their families. |
| Date of disclosure of the study information | 2026/03/30 |
| Last modified on | 2026/03/30 12:33:09 |
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Basic information
Public title
Establishment of a registry to contribute to the prevention of cardiovascular events in pediatric patients with suspected or confirmed familial hypercholesterolemia and their families.
Acronym
Establishment of a registry to contribute to the prevention of cardiovascular events in pediatric patients with suspected or confirmed familial hypercholesterolemia and their families.
Scientific Title
Establishment of a registry to contribute to the prevention of cardiovascular events in pediatric patients with suspected or confirmed familial hypercholesterolemia and their families.
Scientific Title:Acronym
Establishment of a registry to contribute to the prevention of cardiovascular events in pediatric patients with suspected or confirmed familial hypercholesterolemia and their families.
Region
| Japan |
Condition
Condition
Familial Hypercholesterolemia
Classification by specialty
| Medicine in general | Cardiology |
Classification by malignancy
Others
Genomic information
YES
Objectives
Narrative objectives1
Clinical data, including genetic testing results and lipid profiles, of pediatric patients with confirmed or suspected familial hypercholesterolemia will be prospectively collected and followed as part of a registry study.
Basic objectives2
Others
Basic objectives -Others
We will establish a registry targeting patients and children identified with elevated low-density lipoprotein cholesterol (LDL-C) through the Kagawa Prefecture pediatric lifestyle disease prevention screening program and other health checkups, as well as their family members, who are diagnosed with or suspected of having familial hypercholesterolemia (FH). This registry will longitudinally collect and accumulate disease-related data, with the aim of contributing to the generation of evidence derived from early treatment in pediatric FH patients and from the prompt diagnosis and treatment of affected family members.
Trial characteristics_1
Exploratory
Trial characteristics_2
Developmental phase
Assessment
Primary outcomes
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)
Key secondary outcomes
Base
Study type
Observational
Study design
Basic design
Randomization
Randomization unit
Blinding
Control
Stratification
Dynamic allocation
Institution consideration
Blocking
Concealment
Intervention
No. of arms
Purpose of intervention
Type of intervention
Interventions/Control_1
Interventions/Control_2
Interventions/Control_3
Interventions/Control_4
Interventions/Control_5
Interventions/Control_6
Interventions/Control_7
Interventions/Control_8
Interventions/Control_9
Interventions/Control_10
Eligibility
Age-lower limit
| Not applicable |
Age-upper limit
| Not applicable |
Gender
Male and Female
Key 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.
Key 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.
Target sample size
800
Research contact person
Name of lead principal investigator
| 1st name | Tetsuo |
| Middle name | |
| Last name | Minamino |
Organization
Faculty of Medicine, Kagawa University
Division name
Department of Cardiorenal and Cerebrovascular Medicine
Zip code
761-0793
Address
1750-1 Ikenobe, Mikicho, Kita-gun, Kagawa
TEL
087-891-2150
minamino.tetsuo.gk@kagawa-u.ac.jp
Public contact
Name of contact person
| 1st name | Tomoko |
| Middle name | |
| Last name | Inoue |
Organization
Faculty of Medicine, Kagawa University
Division name
Department of Cardiorenal and Cerebrovascular Medicine
Zip code
761-0793
Address
1750-1 Ikenobe, Mikicho, Kita-gun, Kagawa
TEL
087-891-2150
Homepage URL
inoue.tomoko@kagawa-u.ac.jp
Sponsor or person
Institute
Kagawa University
Institute
Department
Personal name
Funding Source
Organization
Japan Agency for Medical Research and Development
Organization
Division
Category of Funding Organization
Japanese Governmental office
Nationality of Funding Organization
Other related organizations
Co-sponsor
Name of secondary funder(s)
IRB Contact (For public release)
Organization
Clinical Research Support Center, Kagawa University Hospital
Address
1750-1 Ikenobe, Mikicho, Kita-gun, Kagawa
Tel
087-898-5111
chiken-m@kagawa-u.ac.jp
Secondary IDs
Secondary IDs
NO
Study ID_1
Org. issuing International ID_1
Study ID_2
Org. issuing International ID_2
IND to MHLW
Institutions
Institutions
Other administrative information
Date of disclosure of the study information
| 2026 | Year | 03 | Month | 30 | Day |
Related information
URL releasing protocol
Publication of results
Unpublished
Result
URL related to results and publications
Number of participants that the trial has enrolled
Results
Results date posted
Results Delayed
Results Delay Reason
Date of the first journal publication of results
Baseline Characteristics
Participant flow
Adverse events
Outcome measures
Plan to share IPD
IPD sharing Plan description
Progress
Recruitment status
Open public recruiting
Date of protocol fixation
| 2025 | Year | 05 | Month | 27 | Day |
Date of IRB
| 2025 | Year | 05 | Month | 27 | Day |
Anticipated trial start date
| 2025 | Year | 11 | Month | 01 | Day |
Last follow-up date
| 2034 | Year | 03 | Month | 31 | Day |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
Other
Other related information
Familial hypercholesterolemia (FH) is an autosomal dominant disorder mainly caused by mutations in LDL receptor-related genes. Patients with FH have markedly elevated LDL cholesterol (LDL-C) levels from birth. If untreated, FH is associated with premature coronary artery disease and reduced life expectancy. Heterozygous FH affects approximately 1 in 300 individuals. Because atherosclerosis may progress from childhood and its progression can be slowed by treatment, early diagnosis and treatment of pediatric FH are important.
In Kagawa Prefecture, a pediatric lifestyle disease prevention screening program is conducted throughout the prefecture. Every year, all fourth-grade elementary school students, about 8,000 children, undergo blood testing including LDL-C measurement, with a participation rate of over 90%. This has established a prefecture-wide universal pediatric lipid screening system, which is unique in Japan and provides a valuable opportunity to accumulate large-scale data.
In this study, we will longitudinally follow children suspected of having FH through this screening program and other health checkups, as well as their family members, and establish a registry. This registry may contribute to better treatment strategies for pediatric FH, earlier diagnosis of affected family members, risk prediction in children based on parental clinical features, early personalized medicine, and the development of a regional support system involving local governments, medical associations, and core hospitals.
Management information
Registered date
| 2026 | Year | 03 | Month | 30 | Day |
Last modified on
| 2026 | Year | 03 | Month | 30 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000069915
