familial hypercholesterolemia
Information
- Disease name
- familial hypercholesterolemia
- Disease ID
- DOID:13810
- Description
- "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease." [url:http\://en.wikipedia.org/wiki/Familial_hypercholesterolemia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03832985 | Active, not recruiting | Early Phase 1 | Pediatric Reporting of Adult-Onset Genomic Results | November 25, 2020 | June 30, 2024 |
| NCT05952856 | Active, not recruiting | Phase 3 | A Study of MK-0616 (Oral PCSK9 Inhibitor) in Adults With Hypercholesterolemia (MK-0616-013) CORALreef Lipids | August 10, 2023 | September 24, 2025 |
| NCT05952869 | Active, not recruiting | Phase 3 | A Study of MK-0616 (Oral PCSK9 Inhibitor) in Adults With Heterozygous Familial Hypercholesterolemia (MK-0616-017) CORALreef HeFH | August 8, 2023 | April 28, 2025 |
| NCT05425745 | Active, not recruiting | Phase 3 | Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies. | July 25, 2022 | September 30, 2024 |
| NCT05695937 | Active, not recruiting | N/A | Brazilian Cardioprotective Diet, Phytosterols and Krill Oil in Patients With Familial Hypercholesterolemia | May 22, 2023 | July 2024 |
| NCT05142722 | Active, not recruiting | Phase 3 | Randomized Study to Evaluate the Effect of Obicetrapib on Top of Maximum Tolerated Lipid-Modifying Therapies | December 15, 2021 | September 2024 |
| NCT00943306 | Completed | Phase 3 | Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia | October 29, 2009 | December 1, 2014 |
| NCT01107743 | Completed | Amlodipine/Atorvastatin (Caduet®) Drug Use Investigation (Regulatory Post Marketing Commitment Plan) | June 2010 | April 2012 | |
| NCT01138371 | Completed | Effects of Low-density Lipoprotein (LDL) Apheresis on Inflammatory and Lipid Markers | March 2011 | March 2012 | |
| NCT04419090 | Completed | N/A | Cascade Genetic Testing of Familial Hypercholesterolemia | November 10, 2020 | December 31, 2023 |
| NCT00705211 | Completed | A 52-week Post-marketing, Observational Study to Confirm the Safety and Efficacy of Zetia Alone or in Combination With Other Lipid-lowering Drugs in Japanese Subjects With Hypercholesterolemia (Study P05245) | June 2007 | December 2009 | |
| NCT04494464 | Completed | Treatment Rates and Compliance to Treatment in Patients With Familial Hypercholesterolemia | January 2017 | May 2017 | |
| NCT04507984 | Completed | Universal Familial Hypercholesterolemia Screening in Children | January 1, 2019 | December 31, 2021 | |
| NCT00827606 | Completed | Phase 3 | Atorvastatin Three Year Pediatric Study | March 2009 | October 2013 |
| NCT00916643 | Completed | Phase 4 | Low-Density Lipoprotein (LDL) Apheresis Using H.E.L.P. Therapy | December 1999 | September 2009 |
| NCT03060577 | Completed | Phase 2 | An Extension Trial of Inclisiran in Participants With Cardiovascular Disease and High Cholesterol | April 27, 2017 | December 17, 2021 |
| NCT03110250 | Completed | Familial Hypercholesterolemia in Turkey (A-HIT2) | February 26, 2017 | December 5, 2017 | |
| NCT03253432 | Completed | IN-TANDEM Familial Hypercholesterolemia Pilot Study | July 20, 2017 | November 7, 2018 | |
| NCT05465278 | Completed | Phase 4 | Alirocumab and Plaque Burden In Familial Hypercholesterolaemia | May 1, 2018 | March 30, 2022 |
| NCT05430191 | Completed | Equitable Implementation of Cascade Screening for Familial Hypercholesterolemia | July 20, 2022 | June 20, 2023 | |
| NCT05352386 | Completed | N/A | Coronary and Heart Effects of Early Treatment in Familial Hypercholesterolemia | March 7, 2022 | December 19, 2022 |
| NCT03640234 | Completed | Return of Actionable Variants Empirical Study | February 25, 2016 | September 1, 2022 | |
| NCT03747224 | Completed | Phase 1 | Study of ARO-ANG3 in Healthy Volunteers and in Dyslipidemic Patients | January 7, 2019 | May 17, 2021 |
| NCT03884452 | Completed | Phase 3 | Ezetimibe (SCH 58235) Taken With Either Atorvastatin or Simvastatin in Participants With Familial Hypercholesterolemia (MK-0653-018) | May 3, 2000 | May 24, 2001 |
| NCT05261126 | Completed | Phase 2 | A Study of the Efficacy and Safety of MK-0616 (Oral PCSK9 Inhibitor) in Adults With Hypercholesterolemia (MK-0616-008) | March 10, 2022 | November 28, 2022 |
| NCT00355615 | Completed | Phase 3 | PLUTO: Pediatric Lipid-redUction Trial of rOsuvastatin | July 2006 | July 2008 |
| NCT00655265 | Completed | Phase 4 | A Study of the Safety and Efficacy of Patients With Familial Hypercholesterolaemia Taking Colesevelam as add-on Therapy to Their Existing Medication | August 2007 | October 2009 |
| NCT00704444 | Completed | A 12-week Post-marketing, Observational Study to Confirm the Safety and Efficacy of Zetia Alone or in Combination With Other Lipid-lowering Drugs in Japanese Subjects With Hypercholesterolemia (Study P05244) | June 2007 | September 2009 | |
| NCT01813006 | Completed | Phase 3 | Effect of Omega-3 Fatty Acid on Endothelial Function | March 2013 | December 2017 |
| NCT00004809 | Completed | Phase 1 | Phase I Study of Ex Vivo Liver-Directed Gene Therapy for Familial Hypercholesterolemia | June 1992 | |
| NCT02048410 | Completed | Phase 1/Phase 2 | Efficacy of a New Symbiotic Formulation in Children With Familial Hypercholesterolemia | January 2012 | June 2013 |
| NCT02225340 | Completed | Relationships Between Plasma PCSK9 Levels, LDL-cholesterol Concentrations and Lipoprotein (a) Levels in Familial Hypercholesterolemia | January 2014 | April 2014 | |
| NCT02462655 | Completed | N/A | Effects of LDL Apheresis System on the Expression of Genes Involved in Lipoprotein Metabolism and Inflammation in Homozygotes for Familial Hypercholesterolemia | October 2015 | February 2016 |
| NCT02597127 | Completed | Phase 2 | Trial to Evaluate the Effect of ALN-PCSSC Treatment on Low Density Lipoprotein Cholesterol (LDL-C) | January 2016 | June 7, 2017 |
| NCT02624869 | Completed | Phase 3 | Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Children With Inherited Elevated Low-density Lipoprotein Cholesterol (Familial Hypercholesterolemia) | September 10, 2016 | June 1, 2021 |
| NCT02709850 | Completed | Phase 1 | Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of IONIS ANGPTL3-LRx in Healthy Volunteers With Elevated Triglycerides and Participants With Familial Hypercholesterolemia | November 30, 2015 | June 26, 2017 |
| NCT02729857 | Completed | N/A | Postprandial Response After Intake of Meals With Different Fatty Acid Composition | March 2016 | June 2016 |
| NCT02748057 | Completed | Phase 3 | A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653H in Japanese Participants With Hypercholesterolemia (MK-0653H-833) | May 18, 2016 | December 11, 2017 |
| NCT02750527 | Completed | Pediatric Population Screening for Type 1 Diabetes and Familial Hypercholesterolemia in Lower Saxony, Germany | September 2016 | December 2020 | |
| NCT02778646 | Completed | Detection of Familial Hypercholesterolaemia in Cardiovascular Disease Registry | January 2003 | December 2014 | |
| NCT02808403 | Completed | Long Term Post Marketing Specified Drug Use Result Survey for Evolocumab in Japan | June 24, 2016 | March 30, 2023 | |
| NCT04929457 | Enrolling by invitation | Evaluation of a Digiphysical Screening Method to Identify and Diagnose Familial Hypercholesterolemia | September 1, 2021 | September 2033 | |
| NCT05284513 | Enrolling by invitation | N/A | Collaborative Approach to Reach Everyone With Familial Hypercholesterolemia (CARE-FH) | September 9, 2022 | January 2027 |
| NCT05750667 | Enrolling by invitation | N/A | Penn Family Screening for Familial Hypercholesterolemia | January 24, 2023 | February 28, 2027 |
| NCT05746247 | Enrolling by invitation | N/A | Improving Diagnosis and Clinical Management of Familial Hypercholesterolemia Through Integrated Machine Learning, Implementation Science, and Behavioral Economics | March 1, 2022 | September 30, 2024 |
| NCT04798430 | Enrolling by invitation | Phase 3 | Long-term Efficacy and Safety of OLE LIB003 in HoFH, HeFH, and High-risk CVD Patients Requiring Further LDL-C Reduction | December 3, 2020 | December 31, 2024 |
| NCT06439654 | Not yet recruiting | N/A | Atlantic Lipid Lowering Treatment Optimization Program | June 1, 2024 | December 31, 2027 |
| NCT06331195 | Not yet recruiting | N/A | An Adapted Brazilian Cardioprotective Diet, Phytosterols and Krill Oil in Familial Hypercholesterolemia (DICA-FH) | June 2024 | December 2026 |
| NCT06293729 | Not yet recruiting | Early Phase 1 | Safety and Efficacy Study of NGGT006 in Refractory Hypercholesterolemia Patients | June 1, 2024 | March 1, 2029 |
| NCT05825612 | Not yet recruiting | EPIRUS FH Reverse Cascade Screening | May 2023 | May 2033 | |
| NCT05614219 | Not yet recruiting | N/A | Familial Hypercholesterolemia Interpretive Comment - Nudging to Detection. | December 1, 2023 | May 1, 2025 |
| NCT04529967 | Not yet recruiting | Child-Parent Familial Hypercholesterolemia Screening | April 1, 2024 | September 30, 2025 | |
| NCT05851066 | Not yet recruiting | Phase 1 | A VSA003 Phase 1 Study in Chinese Adult Healthy Volunteers | June 2023 | December 2023 |
| NCT05043181 | Not yet recruiting | Phase 1 | Exosome-based Nanoplatform for Ldlr mRNA Delivery in FH | December 2021 | December 2026 |
| NCT06461702 | Recruiting | Early Phase 1 | Clinical Exploration Trial of YOLT-101 in the Treatment of Familial Hypercholesterolemia (FH) | April 1, 2024 | December 2025 |
| NCT02009345 | Recruiting | Familial Hypercholesterolemia Canada / Hypercholesterolemie Familiale Canada | November 2013 | November 2028 | |
| NCT02208869 | Recruiting | Russian Familial Hypercholesterolemia Registry | January 2014 | December 31, 2026 | |
| NCT04101149 | Recruiting | Genetic Causes of Familial Hypercholesterolemia | September 1, 2019 | December 2045 | |
| NCT04272697 | Recruiting | EAS Familial Hypercholesterolaemia Studies Collaboration | March 22, 2015 | December 2025 | |
| NCT04370899 | Recruiting | Early Detection of Familial Hypercholesterolemia in Children | March 14, 2013 | January 13, 2030 | |
| NCT04458766 | Recruiting | N/A | The Use of Mobile Health Technology and Behavioral Economics to Encourage Adherence in Adolescents | January 1, 2021 | July 31, 2024 |
| NCT04656028 | Recruiting | N/A | Genetic Testing and Motivational Counseling for FH | June 15, 2020 | March 30, 2025 |
| NCT04941599 | Recruiting | Phase 2 | 2-Hydroxybenzylamine (2-HOBA) to Reduce HDL Modification and Improve HDL Function in Familial Hypercholesterolemia (FH) | February 14, 2024 | November 2025 |
| NCT05181553 | Recruiting | N/A | Unravelling the Impact of Diet on Cardiovascular Health in Heterozygous Familial Hypercholesterolemia. | January 10, 2022 | December 31, 2026 |
| NCT05218005 | Recruiting | N/A | Advancing Cardiac Care Unit-based Rapid Assessment and Treatment of hypErcholesterolemia | January 1, 2022 | April 2025 |
| NCT05238519 | Recruiting | Phase 3 | Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH) | February 15, 2022 | February 2025 |
| NCT05348564 | Recruiting | N/A | Comparing Direct vs Indirect Methods for Cascade Screening | May 15, 2023 | March 2027 |
| NCT05367310 | Recruiting | Effect of Breastfeeding on Lipid Profile and Cardiovascular Risk Markers in Women With Familial Hypercholesterolemia | May 1, 2022 | December 31, 2024 | |
| NCT05758779 | Recruiting | N/A | The Danish Familial Hypercholesterolemia Organized Coronary Screening Trial | September 1, 2023 | May 1, 2025 |
| NCT06005597 | Recruiting | Phase 3 | Study of Obicetrapib & Ezetimibe Fixed Dose Combination on Top of Maximum Tolerated Lipid-Modifying Therapies | March 1, 2024 | November 2024 |
| NCT06362473 | Recruiting | Lipid Transport Disorder Italian Genetic Record (LIPIGEN) | August 4, 2015 | September 30, 2026 | |
| NCT06389825 | Recruiting | N/A | Unravelling the Impact of Diet on Cardiovascular Health in Treated Heterozygous Familial Hypercholesterolemia. | April 1, 2024 | June 30, 2024 |
| NCT06458010 | Recruiting | Early Phase 1 | Clinical Exploration Trial of YOLT-101 in the Treatment of Familial Hypercholesterolemia (FH) | May 24, 2024 | February 25, 2026 |
| NCT03331666 | Terminated | Phase 4 | Impact of LDL-cholesterol Lowering on Platelet Activation | November 16, 2018 | February 4, 2020 |
| NCT02013713 | Terminated | French Observatory of Familial Hypercholesterolemia in Cardiology | November 2014 | December 2016 | |
| NCT00079846 | Terminated | Phase 2 | Implitapide in Patients With Homozygous Familial Hypercholesterolemia (HoFH) on Maximal Concurrent Lipid-Lowering Therapy | September 2003 | April 2005 |
| NCT00079859 | Terminated | Phase 2 | Implitapide in Patients With Heterozygous Familial Hypercholesterolemia (HeFH) on Maximal Concurrent Lipid-Lowering Therapy | October 2003 | April 2005 |
| NCT03152656 | Unknown status | A Registration Study for Familial Hypercholesterolemia in Taiwan | July 2015 | June 2018 | |
| NCT03140605 | Unknown status | Greek Registry - Familial Hypercholesterolaemia | January 10, 2017 | December 10, 2020 | |
| NCT02870660 | Unknown status | Familial Hypercholesterolemia Amongst Patients With Acute Coronary Syndrome | August 2016 | September 2021 | |
| NCT02865694 | Unknown status | Developing and Implementing Familial Hypercholesterolemia Registry | August 2016 | September 2021 | |
| NCT02489253 | Unknown status | Atherosclerosis in Familial Hypercholesterolemia | April 2014 | December 2016 | |
| NCT04958629 | Unknown status | A Prospective Cohort Study on Familial Hypercholesterolemia in Health Examination Population | October 1, 2021 | December 31, 2023 | |
| NCT04455581 | Unknown status | Phase 2 | A Study to Determine the Safety, Tolerability, and Efficacy of SHR-1209 in Patients With Familial Hypercholesterolemia | September 1, 2020 | August 31, 2021 |
| NCT05066932 | Unknown status | Advanced Lipoproptein Profiling and Cardiovascular Risk Stratification in Familial Hypercholesterolemia | October 20, 2021 | October 2022 | |
| NCT03934320 | Unknown status | N/A | Improving Identification of Familial Hypercholesterolaemia in Primary Care (FAMCAT) | June 12, 2017 | July 31, 2020 |
| NCT01783405 | Unknown status | Cardiovascular Disease in FH Heterozygous | February 2013 | December 2014 | |
| NCT00924339 | Unknown status | N/A | Soy Food Intervention Trial | September 2009 | September 2011 |
| NCT00924274 | Unknown status | N/A | Effect of Rapeseed Oil and Sunflower Oil | March 2008 | December 2010 |
| NCT03597958 | Unknown status | Genetic Causes of Hypercholesterolaemia in the Emirati Population | January 17, 2017 | December 31, 2020 | |
| NCT03398954 | Unknown status | a Prospective Pilot Study of Screening Out Rate and Clinical Management of Familial Hypercholesterolemia | January 18, 2018 | December 30, 2019 | |
| NCT03310671 | Unknown status | Aortic Stenosis in Subjects With Heterozygous Familial Hypercholesterolemia on Prolonged Treatment With Statins | July 18, 2017 | July 18, 2018 | |
| NCT03900169 | Unknown status | Familial Hypercolerstremia as Risk Factor in Stemi Patient Who Underwent Ppci | November 1, 2020 | November 1, 2021 | |
| NCT05271305 | Unknown status | Pilot Study for a National Screening for Familial Hypercholesterolemia | September 4, 2021 | December 31, 2023 | |
| NCT00751608 | Withdrawn | Phase 2 | Effect of APL180 on Endothelial Function in Familial Hypercholesterolemia Patients | September 2006 | February 2009 |
| NCT03756779 | Withdrawn | N/A | Cross-over Pilot Study of Blood Cholesterol Response to Dietary Saturated Fat in Patients With Autosomal Dominant Hypercholesterolemia | May 15, 2017 | June 30, 2020 |
- Disase is a (Disease Ontology)
- DOID:1168
- Cross Reference ID (Disease Ontology)
- GARD:10416
- Cross Reference ID (Disease Ontology)
- ICD10CM:E78.01
- Cross Reference ID (Disease Ontology)
- MESH:D006938
- Cross Reference ID (Disease Ontology)
- MIM:143890
- Cross Reference ID (Disease Ontology)
- NCI:C34704
- Cross Reference ID (Disease Ontology)
- ORDO:406
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190772003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0020445
- Exact Synonym (Disease Ontology)
- familial hyperbetalipoproteinaemia
- Exact Synonym (Disease Ontology)
- familial hypercholesteremia
- Exact Synonym (Disease Ontology)
- Fredrickson type IIa hyperlipoproteinemia
- Exact Synonym (Disease Ontology)
- Fredrickson type IIa lipidaemia
- Exact Synonym (Disease Ontology)
- hyperbetalipoproteinemia
- Exact Synonym (Disease Ontology)
- type II hyperlipidemia