View clinical trials related to Familial Hypercholesterolemia.
Filter by:The goal of this study is to identify individuals at high risk of FH, and to encourage the appropriate diagnosis and treatment of individuals at high risk of FH through the use of implementation science and behavioral economics principles. Phase 1: Applying the FIND FH tool to the health system EHR and gathering data for pilot development; Phase 2: Pilot development and implementation; Phase 3: Conduct a large-scale pragmatic trial consistent with recommendations and learnings from the pilots in Phase 2
The main objective of this pilot study is to evaluate the effects of the Brazilian Cardioprotective Diet (DICA Br) supplemented or not with phytosterols and/or krill oil in patients with a probable or definitive diagnosis of familial hypercholesterolemia (FH) identified by the Dutch Lipid Clinic Network (Dutch MEDPED) criteria. In addition, the following will be considered secondary objectives: to perform participants´ complete sequencing of the exome; to evaluate the effects of the interventions on lipid profile; to identify subclasses of low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol; to perform untargeted lipidomic analyses; to evaluate the frequency of mild, moderate and severe adverse events according to study groups; and to evaluate both implementation components and adherence rates to the protocol, aiming to design a larger randomized trial. In this pilot study, between 48 and 76 individuals will be randomly enrolled into four groups: 1) DICA Br adapted to FH (DICA-HF) + phytosterol placebo + krill oil placebo (control group); 2) DICA-HF + 2g/day of phytosterol + krill oil placebo; 3) DICA-HF + phytosterol placebo + 2g/day of krill oil; and 4) DICA-HF + 2g/day of phytosterol + 2g/day of krill oil. Primary outcomes will be LDL-cholesterol for groups phytosterol vs. placebo and lipoprotein(a) for groups krill oil vs. placebo after 120 days of follow up. World Health Organization Universal Trial Number (WHO-UTN): U1111-1296-7102
Familial hypercholesterolemia is the most common inherited disease of the lipid metabolism, however it remains underdiagnosed. Only 15 % of 30.000 possible patients have been found in Denmark. This quality assessing project will through a step wedge cluster randomized controlled trial evaluate establishment of a biochemistry interpretive comment on elevated LDL-C levels. The study will test if the comment results in an increase in referred patients to the lipid clinics of Southern Denmark as the primary endpoint, and as the secondary endpoint in more patients diagnosed with familial hypercholesterolemia. The project will run in totally 52 weeks and will in steps initiate the comment from the different laboratories in the Region of Southern Denmark.
Low-level, open-label, multicenter clinical trial to evaluate the effect of alirocumab on the volume, architecture and composition of atherosclerotic plaque in patients with Familial hypercholesterolemia from the SAFEHEART Registry. ARCHITECT study
Design, refine, and pilot the two implementation approaches using behavioral economics and then seek further feedback prior to the proposed clinical trial, consistent with these recommendations. Aim 1. Co-design both implementation strategies using behavioral economics in partnership with the Family Heart Foundation and key partners from diverse backgrounds. Aim 2. Pilot strategies with 20 patients with high cholesterol and/or with familial hypercholesterolemia (FH) to ascertain feasibility, acceptability, appropriateness.
This study will be a placebo-controlled, double-blind, randomized, phase 3 study to Evaluate the Efficacy, Safety, and Tolerability of Obicetrapib in Participants with a History of Heterozygous Familial Hypercholesterolemia (HeFH).
The study aims to investigate the effects of breastfeeding on lipid profile and cardiovascular risk markers in women with familial hypercholesterolemia (FH) compared to women without FH. Women with and without FH who are pregnant or planning pregnancy will be recruited, and will be invited to repeated study visits from the end of pregnancy and through the first year after delivery. Blood samples and data on anthropometry, health, pregnancy, lifestyle and diet will be collected. Statin transfer into breast milk will also be measured in breast milk samples collected when the women end breastfeeding the child and start statin treatment.
This study evaluates plaque burden and characteristics in early-treated FH patients compared to late-treated FH patients and healthy individuals.
An important aspect of successful genomic medicine implementation is developing effective approaches for screening at-risk family members after probands are identified, also known as cascade screening. Most cascade screening studies conducted to date have been conducted outside the US, and very few studies have used a rigorous approach involving a comparator group or randomized controlled design. A major question in the field is how to most effectively implement cascade screening, given commonly cited communication barriers, while respecting privacy among probands and family members. This study will conduct a randomized controlled trial to assess direct contact of relatives by study team members vs indirect, or proband-initiated, contact. We will assess efficacy of the cascade screening intervention, patient-centered outcomes regarding mental, physical, and psychosocial outcomes in probands and family members, and implementation evaluation outcomes. Individuals who are known to carry the KCNQ1 Met224Thr or APOB Arg3527Gln variant will be eligible to participate. After providing consent and being deemed eligible, individuals will be randomized in a 1:1 manner into the direct or indirect contact of family members arm of the study. The randomization will be stratified by variant to ensure equal representation of each variant in the study arms. Individuals in the indirect arm will be instructed to contact their first-degree family members about the opportunity to be screened. They will be provided with a disease-specific pamphlet and a family letter explaining the cascade screening. In the direct arm, probands will be advised that the study staff will be contacting their family members. They will be instructed to also contact their family members prior to the study team contacting them. Approximately two weeks after this meeting with the proband, the study staff will mail letters to eligible first-degree family members of the probands. If we do not hear back from individual family members, we will follow-up with another letter, telephone call, or home visit. The information contained in the letters will be the same information for both the direct and indirect arms of the study. All interested family members will receive pre-test counseling and free, in-home, saliva-based genetic testing, and post-test counseling.
Diagnosis rates of familial hypercholesterolemia (FH) are low in the United States, despite multiple guidelines and recommendations for screening and treatment of high cholesterol, to prevent heart attacks in those affected. Using a stepped-wedge design, the investigators plan to utilize tools from implementation science to improve uptake, acceptability, and sustainability of FH diagnostic programs in primary care settings. If successful, this study will provide tools generalizable to other health care systems to improve FH diagnosis rates.