TY - JOUR
T1 - Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry
AU - O'Brien, Emily C.
AU - Roe, Matthew T.
AU - Fraulo, Elizabeth S.
AU - Peterson, Eric D.
AU - Ballantyne, Christie M.
AU - Genest, Jacques
AU - Gidding, Samuel S.
AU - Hammond, Emma
AU - Hemphill, Linda C.
AU - Hudgins, Lisa C.
AU - Kindt, Iris
AU - Moriarty, Patrick M.
AU - Ross, Joyce
AU - Underberg, James A.
AU - Watson, Karol
AU - Pickhardt, Dave
AU - Rader, Daniel J.
AU - Wilemon, Katherine
AU - Knowles, Joshua W.
N1 - Funding Information:
The CASCADE FH Registry is sponsored by The FH Foundation that receives funding from a variety of sources. The Duke Clinical Research Institute serves as the academic coordinating center and will develop and maintain the database and program and distribute the aforementioned annual data feedback reports. The CASCADE FH Registry protocol has been reviewed and approved by the Duke University Institutional Review Board and has been registered on www.clinicaltrials.gov (ID no. NCT01960244 ). In addition, all participating sites will be required to obtain institutional review board approval before commencing with data entry. The CASCADE FH Registry will be supervised and directed by an executive committee consisting of FH care providers, The FH Foundation representatives who are also patients, and Duke Clinical Research Institute representatives.
Funding Information:
The research and creation of this manuscript were supported entirely by The FH Foundation. The authors are solely responsible for the design and conduct of this study, all study analyses, the drafting and editing of the manuscript, and its final contents.
PY - 2014/3
Y1 - 2014/3
N2 - Background Familial hypercholesterolemia (FH) is a hereditary condition caused by various genetic mutations that lead to significantly elevated low-density lipoprotein cholesterol levels and resulting in a 20-fold increased lifetime risk for premature cardiovascular disease. Although its prevalence in the United States is 1 in 300 to 500 individuals, <10% of FH patients are formally diagnosed, and many are not appropriately treated. Contemporary data are needed to more fully characterize FH disease prevalence, treatment strategies, and patient experiences in the United States. Design The Familial Hypercholesterolemia Foundation (a patient-led nonprofit organization) has established the CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia (CASCADE FH) Registry as a national, multicenter initiative to identify US FH patients, track their treatment, and clinical and patient-reported outcomes over time. The CASCADE FH will use multiple enrollment strategies to maximize identification of FH patients. Electronic health record screening of health care systems will provide an efficient mechanism to identify undiagnosed patients. A group of specialized lipid clinics will enter baseline and annual follow-up data on demographics, laboratory values, treatment, and clinical events. Patients meeting prespecified low-density lipoprotein or total cholesterol criteria suspicious for FH will have the opportunity to self-enroll in an online patient portal with information collected directly from patients semiannually. Registry patients will be provided information on cascade screening and will complete an online pedigree to assist with notification of family members. Summary The Familial Hypercholesterolemia Foundation CASCADE FH Registry represents a novel research paradigm to address gaps in knowledge and barriers to comprehensive FH screening, identification, and treatment.
AB - Background Familial hypercholesterolemia (FH) is a hereditary condition caused by various genetic mutations that lead to significantly elevated low-density lipoprotein cholesterol levels and resulting in a 20-fold increased lifetime risk for premature cardiovascular disease. Although its prevalence in the United States is 1 in 300 to 500 individuals, <10% of FH patients are formally diagnosed, and many are not appropriately treated. Contemporary data are needed to more fully characterize FH disease prevalence, treatment strategies, and patient experiences in the United States. Design The Familial Hypercholesterolemia Foundation (a patient-led nonprofit organization) has established the CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia (CASCADE FH) Registry as a national, multicenter initiative to identify US FH patients, track their treatment, and clinical and patient-reported outcomes over time. The CASCADE FH will use multiple enrollment strategies to maximize identification of FH patients. Electronic health record screening of health care systems will provide an efficient mechanism to identify undiagnosed patients. A group of specialized lipid clinics will enter baseline and annual follow-up data on demographics, laboratory values, treatment, and clinical events. Patients meeting prespecified low-density lipoprotein or total cholesterol criteria suspicious for FH will have the opportunity to self-enroll in an online patient portal with information collected directly from patients semiannually. Registry patients will be provided information on cascade screening and will complete an online pedigree to assist with notification of family members. Summary The Familial Hypercholesterolemia Foundation CASCADE FH Registry represents a novel research paradigm to address gaps in knowledge and barriers to comprehensive FH screening, identification, and treatment.
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U2 - 10.1016/j.ahj.2013.12.008
DO - 10.1016/j.ahj.2013.12.008
M3 - Article
C2 - 24576518
AN - SCOPUS:84896696778
SN - 0002-8703
VL - 167
SP - 342-349.e17
JO - American heart journal
JF - American heart journal
IS - 3
ER -