Trial DesignRationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry
Section snippets
Background
Familial hypercholesterolemia (FH) is a common genetic condition that affects all racial and ethnic groups1 and results in severely elevated levels of low-density lipoprotein cholesterol (LDL-C) from fetal life and concomitant elevated risk of premature cardiovascular disease. It is estimated that >600,000 people in the United States have FH, yet <10% are aware of their condition.2, 3 Of those who are diagnosed, many do not reach recommended treatment targets. A US-based FH registry is needed
Registry objectives
The FH Foundation CASCADE FH Registry has the following 4 specific objectives: (1) To promote awareness of FH prevalence, risk factors, and optimal disease management through education at both the patient and provider level; (2) To identify and enroll heterozygous and homozygous FH patients through clinic- and health care organization–based, community-based, and family-based screening initiatives to track therapy, patient-reported outcomes, and clinical outcomes over time; (3) To evaluate
Discussion
The Centers for Disease Control Office of Public Health Genomics recently categorized FH as a Tier 1 condition for cascade screening, with application of NICE clinical guidelines recommended as the highest level of evidence based on analytic validity and clinical utility.24 As the only active US-based registry for FH, the CASCADE FH Registry aims to promote implementation of cascade screening, more timely disease identification, and optimal therapeutic management to improve the clinical
Conclusions
The unique, innovative features of CASCADE FH will serve to both optimize the FH patient experience and to demonstrate the feasibility and benefit to patients of a large, well-designed registry. The CASCADE FH will use 2 complementary enrollment pathways to maximize inclusivity and create a sustainable model for comprehensive patient screening and identification of all FH patients who wish to participate. Because of the strong genetic component, FH as a disease state represents a unique
Disclosures
The CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia Registry is sponsored by the Familial Hypercholesterolemia Foundation, South Pasadena, CA.
References (26)
- et al.
Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
J Clin Lipidol
(Jun 2011) - et al.
Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
J Clin Lipidol
(Jun 2011) Risks of ischaemic heart disease in familial hyperlipoproteinaemic states
Lancet
(1969)- et al.
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
Am J Cardiol
(1993) - et al.
Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands
Lancet
(2001) - et al.
Validation of self-reported chronic conditions and health services in a managed care population
Am J Prev Med
(Apr 2000) - et al.
Evidence-based classification of recommendations on use of genomic tests in clinical practice: dealing with insufficient evidence
Genet Med
(Nov 2010) - et al.
Familial hypercholesterolaemia
- et al.
MEDPED: an integrated genetic strategy for preventing early deaths
- et al.
Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study
BMJ
(2000)
Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review
Am J Epidemiol
FDA approves juxtapid for homozygous familial hypercholesterolemia
FDA approves new orphan drug Kynamro to treat inherited cholesterol disorder
Cited by (75)
Familial Hypercholesterolemia (FH) Registry Worldwide: A Systematic Review
2022, Current Problems in CardiologyCitation Excerpt :SBR criteria were established in the UK in 201313 based on LDL-C level, presence of tendinous xanthoma in patients or first or second degree relatives, family history of MI in under 60 first degree relatives or 50-second degree relatives and molecular diagnosis of APOB and LDLR gene mutations.9,13 MEDPED which was established in the US is a phenotypic FH diagnosis uses “cut points” of lipid value stratified by age and degree of relatedness for diagnosing among the general population.14 FH registry in each country is a national multi-institution observational study that includes the largest cohort of individuals with FH and help to early diagnose to take appropriate and prompt preventive action for controlling their disease and situation at a young age.15
Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): A study protocol
2021, Research in Social and Administrative PharmacyChildren with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry
2021, Journal of PediatricsCitation Excerpt :The CASCADE-FH Registry includes both retrospective data collection from a single record review and prospective data collection with updated clinical status and treatment information based on record review every 6 months and has been described in detail elsewhere.12-15
French familial hypercholesterolemia registry: Why and how?
2020, Medecine des Maladies Metaboliques
Stefan James, MD, PhD, served as guest editor for this article.