Childhood-Onset Essential Hypertension Natural History Study

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Jan 15, 2025

Keywords

ClinConnect Summary

The Childhood-Onset Essential Hypertension Natural History Study is researching high blood pressure that starts in children and teens, known as childhood-onset essential hypertension (COEH). This condition can increase the risk of heart disease, and researchers believe that genetics, or changes in our DNA, play a significant role in its development. The goal of this study is to better understand how these genetic factors contribute to COEH, which could lead to improved treatments for affected children.

To participate in this study, individuals aged 2 years or older who currently have COEH or had it as children are eligible. Additionally, healthy family members of those with COEH are also invited to join. Participants will visit the clinic once a year for up to 10 years, where they will undergo physical exams, provide blood and urine samples, and may have other tests like skin biopsies or ultrasounds. The study aims to gather information that could help in understanding and treating high blood pressure in children, while also ensuring the experience is as straightforward and informative as possible for all involved.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• To be eligible to participate in this study, an affected individual must meet one of the following criteria:
• • Age 2-12 years at time of enrollment with a BP of at least \>95th percentile or 120/80 mm Hg verified via medical record review and a willingness to provide biological samples, undergo physical exam, provide information related to family and medical history, and undergo imaging/body measurements (e.g., renal ultrasound)
• • Age 13-17 years at time of enrollment with a BP of at least 130/80 mm Hg verified via medical record review and a willingness to provide biological samples, undergo physical exam, provide information related to family and medical history, and undergo imaging/body measurements (e.g., renal ultrasound)
• • Age 18 years or more at time of enrollment with a medical history of meeting the criteria outlined in affected individual inclusion criteria 1 or 2, depending on age at diagnosis (verified via medical record review) and a willingness to provide biological samples, undergo physical exam, and provide information related to family and medical history
• To be eligible to participate in this study, an unaffected individual must meet all of the following criteria:
• • First-degree relative to a proband (first identified affected family member) in the study
• • Willingness to provide biological samples, undergo physical exam, and provide information related to family and medical history
• To be eligible to participate in this study, an individual with a candidate variant (regardless of known COEH status) must meet all of the following criteria:
• • History of clinical and/or research genomic interrogation
• • Positive genomic interrogation test result for candidate variant identified in earlier stages of study or in prior studies performed by study team
• • Willingness to provide information related to family and medical history, provide access to relevant medical records, undergo physical exam, and undergo imaging/body measurements (if 2-17 years of age and evidence of COEH exists)
• EXCLUSION CRITERIA:
• An affected individual who meets any of the following criteria will be excluded from participation in this study:
• • BMI \>95th percentile
• • Evidence that hypertension is secondary to a known condition (e.g., chronic kidney disease, aortopathy, sleep apnea, etc.)
• • Impaired decision-making capability, with or without a legally-authorized representative
• An unaffected individual who meets any of the following criteria will be excluded from participation in this study:
• • Prior or current diagnosis of COEH
• • Second-degree or greater relationship to proband
• • Impaired decision-making capability, with or without a legally-authorized representative
• An individual with a candidate variant (regardless of known COEH status) who meets any of the following criteria will be excluded from participation in this study:
• • No prior genomic interrogation findings available for the study team to review to confirm positive candidate variant status
• • Impaired decision-making capability, with or without a legally-authorized representative