The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository

Launched by THE ROGOSIN INSTITUTE · Apr 22, 2010

Keywords

ClinConnect Summary

The Rogosin Institute is conducting a study to create a special database for people with a rare genetic condition called homozygous familial hypercholesterolemia (hoFH), which causes extremely high cholesterol levels from birth. This condition can lead to serious heart problems, including heart attacks, at a young age if not treated. The goal of this trial is to gather important health information and blood samples from individuals with hoFH to better understand the disease and how to monitor and treat it effectively. By studying this data, researchers hope to find better treatments and ways to keep track of how well those treatments are working.

Anyone of any age and gender who has a confirmed diagnosis of hoFH may be eligible to participate. Key criteria include having very high cholesterol levels and specific genetic markers. Participants will be asked to provide health information and blood samples over time, helping researchers learn more about how this condition affects the body and how different treatments work. It’s important to note that participants or their parents must be able to give consent to join the study. This research is a crucial step towards improving care for those affected by this challenging condition.

Gender

ALL

Eligibility criteria

• Inclusion criteria:
• 1. Patients of any age and sex who meet clinical or genetic criteria for hoFH as follows:
• * Documented, untreated fasting LDL cholesterol level of \> 500 mg/dL and triglycerides \< 200 mg/dL on a cholesterol-lowering diet for at least 8 weeks with secondary causes excluded, AND:
• • DNA confirmation of a double mutation of the LDL receptor or apoB gene OR
• • LDL \> 160 mg/dL in both biological parents not associated with a disorder know to elevate LDL OR
• • Coronary artery disease in one or both parents or grandparents \< 55 years for males, \< 65 for females OR
• • Tendinous/cutaneous xanthomas \< age 10 or coronary artery disease \< age 20
• Exclusion criteria:
• • 1. Inability of patient, or, if less than 18, a parent, to sign informed consent.