Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.
Amit V Khera, Hong-Hee Won, Gina M Peloso...
https://pubmed.ncbi.nlm.nih.gov/27050191/Actively Recruiting
Led by Atlantic Health System · Updated on 2025-08-03
250
Participants Needed
2
Research Sites
30 weeks
Total Duration
Researchers are studying familial hypercholesterolemia and related lipid disorders to improve treatment and reduce cardiovascular risks. The study aims to enhance lipid disorder management by partnering with primary care providers and using electronic health records to identify high-risk patients. The goal is to develop a prevention model that integrates treatment guidelines at the practice level, focusing on lowering LDL cholesterol levels in affected individuals. Participants with high LDL-C levels, especially those with familial hypercholesterolemia or related conditions, will receive supportive care through a comprehensive outreach approach. This includes database screening, secure communication with healthcare providers, genetic testing encouragement, education, medication adherence support, routine lab testing, specialist referrals, and follow-up visits either in person or virtually. Additional consultations with pharmacists, nutritionists, genetic counselors, or specialists may be provided to manage coexisting conditions. During the study, patients LDL-C levels will be monitored, with the primary measure being the proportion maintaining LDL-C below 100 mgdL six months after enrollment. Secondary outcomes include achieving LDL-C levels below 75 and 55 mgdL. The study involves ongoing medical management, routine lab tests, and access to integrated care resources, aiming to improve lipid control and reduce cardiovascular risks over time.
CONDITIONS
Atlantic Lipid Lowering Treatment Optimization Program
R
Robert D Fishberg, MD
J
Jeffrey N Feldman, MD
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Atlantic Health System
Lead Sponsor
Regeneron Pharmaceuticals
Collaborating Sponsor
This table compares participation in this trial with other options available for this condition. The information is drawn from published research and the trial’s study details and is provided for educational purposes only.
| Factors | Enhanced lipid management program | Typical US standard care (for high-risk dyslipidemia) |
|---|---|---|
| What is it? | A proactive, patient-centered comprehensive care program for high-risk lipid disorders that uses database screening, outreach, education, encouragement of genetic testing, adherence to prescribed lipid-lowering drugs, and integrated wrap-around care with referrals to pharmacy, nutrition, and specialty support. | Guideline-based lipid management for adults at high cardiovascular risk includes intensive statin therapy as first-line, with addition of ezetimibe and/or a PCSK9 inhibitor as indicated to reach LDL cholesterol targets. Routine follow-up and management address additional risk factors and adherence. |
| Role in the trial | All enrolled participants receive the comprehensive care intervention as part of a single-group study. No control arm is included. | Current standard care is provided to similar patients outside the trial, without dedicated optimization processes or wrap-around elements. |
| Primary use | To lower LDL cholesterol and cardiovascular risk in adults with familial or resistant hypercholesterolemia using an enhanced, proactive care approach. | To reduce LDL cholesterol and prevent cardiovascular events through evidence-based medication, lifestyle, and clinical follow-up. |
| How is it performed? | Participants are identified through database screening or referral, undergo education and genetic testing (if indicated), receive ongoing medical management with adherence support, routine labs, and virtual or in-person visits, and access to integrated care teams including pharmacy and nutrition. | Care typically begins with clinical or biochemical diagnosis and initiation of statin, followed by lab monitoring and periodic intensification per guidelines. Multidisciplinary support and genetic testing are considered when available, but wrap-around coordination is less systematic in routine care. |
| Evidence status | Program effectiveness is under investigation; no published trial results are yet available. | Current-care effectiveness in reducing LDL cholesterol and cardiovascular risk is well established by cumulative randomized trials and summarized in guidelines. |
| Important limitations | Outcomes depend on participant engagement, access to multidisciplinary resources, and generalizability to non-study health systems is not established. | Real-world care may be limited by disparities in access to advanced therapies, variability in care processes, and patient adherence outside integrated systems. |
Disclaimer: This comparison is created with the help of artificial intelligence(AI) and may contain errors or missing information. It is not medical advice and does not mean one option is better or safer than another. Clinical trials are still being studied, and joining a trial is your choice. Please consult your healthcare professional before making any decisions.
You may qualify if you...
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Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or virtual)
Duration - 6 months
Participants receive enhanced supportive care involving outreach, genetic testing encouragement, education, medical management, specialist referrals, and routine follow-up either in person or virtually to manage familial hypercholesterolemia and complex dyslipidemias.
Routine in-person or virtual follow-up visits during 6 months
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
SUPPORTIVE_CARE
Number of Arms
1
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Amit V Khera, Hong-Hee Won, Gina M Peloso...
https://pubmed.ncbi.nlm.nih.gov/27050191/Writing Committee, Donald M Lloyd-Jones, Pamela B Morris...
https://pubmed.ncbi.nlm.nih.gov/36031461/Kelly D Myers, Niloofar Farboodi, Mkaya Mwamburi...
https://pubmed.ncbi.nlm.nih.gov/31331194/Stephen M Amrock, P Barton Duell, Thomas Knickelbine...
https://pubmed.ncbi.nlm.nih.gov/29080546/John J P Kastelein, Henry N Ginsberg, Gisle Langslet...
https://pubmed.ncbi.nlm.nih.gov/26330422/Atlantic Health System
Lead Sponsor
Regeneron Pharmaceuticals
Collaborating Sponsor