Cholesterol Ester Storage Disease (CESD)

Noncommunicable diseases like type 2 diabetes and cardiovascular disease cause more deaths worldwide than any other conditions, with a growing impact especially in low- and middle-income countries. Cardiovascular disease (CVD) is a leading cause of death globally, and its prevalence is rising despite awareness efforts. Diet and nutrition are important factors influencing these diseases, and this research explores the role of a traditional Chinese medicine nutritional drink in supporting cardiovascular health. The study evaluates the effects of the "Perfect Heartio" drink, a nutritional supplement made from diluted herbal extracts traditionally used in Chinese medicine. Participants will consume 15 grams of the drink twice daily for 12 weeks while their compliance is monitored. This intervention is being studied to assess its potential in improving heart and blood vessel function by measuring various cardiovascular health indicators. Participants will be assessed at the start and at weeks 4, 8, and 12 for lipid profiles, heart inflammation, heart injury, and heart remodeling. Quality of life and self-perceived health status will also be evaluated over these timepoints. The study includes healthy adults aged 18 and above who agree to follow the intervention plan and attend follow-up visits. Monitoring throughout the study will help researchers understand the drink's impact on cardiovascular health markers over the 12-week period.

Researchers are investigating coronary heart disease (CHD) combined with chronic kidney disease (CKD), conditions that often occur together and lead to poor health outcomes. Despite controlling traditional risk factors, improving results for these patients has been challenging. This study focuses on new lipid metabolites linked to CHD and CKD progression and aims to develop a risk prediction tool for adverse cardiovascular and kidney outcomes using advanced metabolomics analysis and clinical data. The study involves collecting fasting blood samples from participants to analyze targeted lipid metabolism using a liquid chromatography-tandem mass spectrometry (LC-MS/MS) system. This observational study will follow patients for 12 months to track cardiovascular adverse events and renal composite endpoint events. Researchers will use metabolomics data and clinical information to identify lipid profiles associated with disease progression and create a clinically useful risk assessment model. Participants will be adults aged 18 to 80 with diagnosed CHD confirmed by coronary angiography and known kidney function status. During the study, blood samples will be collected for metabolomics research, and patients will be monitored for cardiovascular and kidney outcomes over a year. Safety and overall health will also be evaluated by tracking all-cause mortality, repeat revascularization, and bleeding incidents, providing insight into disease progression and prognosis.

This research aims to understand how omega-3 fatty acid supplements, specifically eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), affect blood lipid profiles and platelet function in people with high cholesterol and related lipid disorders. The study addresses inconsistent results from previous trials and seeks to clarify whether EPA and DHA have different impacts on cardiovascular risk factors. It focuses on adults with atherogenic dyslipidemia who have specific cholesterol and triglyceride levels. Participants will be randomly assigned to take either EPA or DHA supplements for eight weeks. Those in the DHA group will take three gelcaps three times daily with meals, each containing 450 mg DHA and minimal EPA, while participants in the EPA group will take two gelcaps twice daily, each providing 1 gram of EPA. Both groups will also complete a 28-day food and activity log and maintain a low fatty fish intake diet. During the study, participants will visit the clinic three times for checkups, blood collection, and tests measuring various markers of thrombogenesis, including platelet aggregation, clotting factors, and inflammatory markers. The main outcome is the percentage of platelet aggregation over time. Secondary outcomes include levels of activated platelets, urinary thromboxane metabolites, and plasma inflammatory markers. The total participation duration is eight weeks, with ongoing monitoring of safety and adherence.

Researchers are evaluating how the harvest time of Ilex paraguariensis, commonly known as yerba mate, and its mode of consumption (mate, tereré, or both) affect the lipid profile of regular yerba mate consumers in the Department of Caaguazú, Paraguay. Yerba mate contains bioactive compounds like polyphenols, xanthines, and saponins. This triple-blind randomized clinical trial aims to fill the gap in knowledge about how harvest timing and consumption methods influence dyslipidemias in this population. Participants will be divided into groups based on whether they consume yerba mate harvested at the beginning or end of the harvest period and by how they consume it (mate only, tereré only, or both). The yerba mate samples will be analyzed for bioactive components before being blinded to researchers and participants. The trial includes a six-month consumption period during which participants follow prescribed consumption patterns without changing their usual diet or physical activity. During the study, the lipid profile of participants will be measured at baseline and again at 30, 90, and 180 days after starting consumption. Researchers will collect data on social, cultural, and anthropometric characteristics of consumers. Participants will know their lipid profile results only after completing the trial. The study monitors the effect of yerba mate consumption on lipid metabolism disorders over six months, with careful control of consumption and adherence.

Researchers are studying Neutral Lipid Storage Disease (NLSD) and Triglyceride Deposit Cardiomyovasculopathy (TGCV), which are rare diseases with limited information about their symptoms and progression. This study aims to gather worldwide data on when these diseases start, background information about affected patients, and their natural disease course. The study also explores factors that may predict disease outcomes and assesses how well specific treatments work. The study involves creating an international registry to collect information from patients diagnosed with NLSD or TGCV. This registry includes patients with Jordans' anomaly in certain white blood cells, allowing inclusion of various genetic types of NLSD beyond common gene mutations. The study collects both past medical records and ongoing data from patients. Participants will have their health monitored through various tests and evaluations over up to five years. These include blood tests, muscle and heart assessments, biopsies, imaging scans, exercise tests, and surveys of physical function. The main measure is the time from diagnosis to death from any cause. Secondary measures track many health aspects such as muscle strength, heart and liver function, and neurological symptoms. This long-term observation helps researchers understand the disease and treatment effects better.

This research aims to collect detailed, long-term information about patients with Lysosomal Acid Lipase (LAL) Deficiency, a rare genetic disorder caused by a deficiency of the enzyme responsible for breaking down certain fats in the body. The condition can present as a severe and rapidly progressing disease in infants or a more chronic illness in children and adults, affecting the liver, spleen, and lipid levels, and leading to serious health complications including liver damage and cardiovascular risks. The study focuses on understanding the disease's natural history and variability to improve patient care worldwide. This is an observational, multi-center, international disease registry where patients diagnosed with LAL Deficiency, regardless of their treatment status, are followed over time. The registry collects real-world data to evaluate the long-term outcomes and effectiveness of treatments including sebelipase alfa. Participation is voluntary for both patients and physicians, and the study includes patients living with the disease as well as those deceased. Participants contribute data through their regular medical care and follow-up visits, with researchers gathering information about disease progression, treatment responses, and clinical outcomes. The primary goal is to enhance knowledge about LAL Deficiency by monitoring varied patient experiences and health changes over time. The study is ongoing and aims to support clinical practice and regulatory commitments related to sebelipase alfa therapy. The total duration of participation varies based on ongoing data collection.

This research aims to understand the prevalence, diagnostic methods, and clinical features of lysosomal acid lipase deficiency (LAL-D) in children and adolescents considered at risk in the Russian Federation. It is a multicenter real-world observational study focusing on patients aged 12 months to 18 years who have not previously been tested for LAL-D. The study seeks to gather detailed information on how this condition presents and is diagnosed in routine clinical settings. Participants will not receive experimental treatments as this is an observational study. Instead, the study involves identifying patients with signs or symptoms that may suggest LAL-D, such as unexplained liver enlargement, persistent abnormal liver enzyme levels, or specific patterns of cholesterol abnormalities. Researchers will observe and record diagnostic pathways used and clinical characteristics without altering patient care. During the study, participants will undergo evaluations including genetic testing to confirm LAL-D by detecting decreased enzyme activity and specific genetic variants. The primary outcome is to estimate how many patients in the target age group with predefined risk factors have genetically confirmed LAL-D. Assessments will occur around 60 days after enrollment, with data collected on clinical signs, laboratory results, and family history. The study will continue until June 2028, providing insights into this rare condition in pediatric and adolescent populations.

Researchers are evaluating a multicomponent approach to improve cholesterol treatment in blood donors diagnosed with Familial Hypercholesterolemia (FH), a genetic condition causing high cholesterol. This randomized, two-arm trial compares usual care notification with an implementation strategy bundle to better inform and support patients and their primary care providers. The study is conducted at UT Southwestern Medical Center with recruitment through Carter BloodCare. Participants are randomly assigned to either receive standard notification about their high cholesterol from Carter BloodCare or to receive this usual care plus an implementation bundle. The bundle includes educational materials, a website with resources, and an optional care navigator to assist with cholesterol management. Those in the control group can access the intervention bundle after the study concludes. Participants will attend a screening and baseline visit where blood and urine samples are collected for LDL cholesterol testing and eligibility confirmation. At 3 months, a follow-up phone call will thank participants and answer questions. At 6 months, a virtual visit will assess adverse events, collect fasting blood samples for LDL cholesterol re-measurement, and include electronic surveys and knowledge questionnaires. Additional clinical visits can occur as directed by participants' physicians. The main outcome measured is the change in LDL cholesterol from baseline to 6 months.

Researchers are investigating metabolic flexibility, the body's ability to switch between energy sources, which is important for health and linked to risks like obesity, metabolic syndrome, insulin resistance, and type 2 diabetes. This study focuses on how metabolic flexibility and the body's metabolome change after consuming standardized meals with different mixes of carbohydrates, fats, and proteins. The goal is to understand how the body responds to these meals during the postprandial state, the period after eating. Participants receive three different standardized meal challenges in a randomized order: a high carbohydrate meal, a high fat meal, and a high protein meal. Each meal must be consumed within 15 minutes, followed by a 5-minute rest and then 30 minutes of indirect calorimetry to measure metabolism. Capillary blood samples are taken before and at multiple time points after eating to analyze glucose, lipids, cholesterol, insulin, amino acids, and acyl-carnitines. The study lasts one month, with weekly visits where participants complete questionnaires about activity and diet and provide blood samples and metabolic measurements. Researchers assess metabolic flexibility using respiratory quotient and substrate oxidation, and monitor postprandial glucose, triglycerides, amino acids, and acyl-carnitines. Participants follow fasting and dietary instructions before each test. This comprehensive approach aims to provide insights into metabolic health based on responses to different meal compositions.