National Heart, Lung, And Blood Institute (nhlbi)

This study tested an artificial enzyme called ACP-501 in a single person with Familial LCAT Deficiency (FLD), a rare genetic disorder that causes very low 'good' cholesterol and often leads to kidney failure. Researchers wanted to see if regularly infusing this enzyme could impro…

This early-stage study tested a new approach for hard-to-treat cancers that had spread or didn't respond to standard treatments. Researchers collected a patient's own natural killer (NK) immune cells, grew more of them in a lab, and then gave them back after using a drug (bortezo…

This study tested a new medical tool called TELLTALE, designed to make heart valve replacement surgery safer. The device helps doctors safely cut a small flap of tissue inside the heart during the procedure to prevent a rare but deadly blockage of blood flow. Researchers enrolled…

This study tested a combination of three medicines—ibrutinib, fludarabine, and pembrolizumab—for adults with a hard-to-treat form of chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL). The goal was to see if using these drugs together could achieve a complete …

This study tested an oral drug called ruxolitinib in a single adult patient with a rare, severe disease that damages blood vessels in the brain and spinal cord. The goal was to see if the drug could stop the disease from getting worse by preventing new brain lesions. The patient …

This study tested a new oral drug called bitopertin for adults with Diamond-Blackfan anemia (DBA) who don't respond well to steroids. DBA is a rare, inherited condition where the bone marrow fails to make enough red blood cells, often requiring frequent transfusions. The goal was…

This study aimed to find the most accurate blood test to measure kidney function in adults with sickle cell disease. Kidney problems are common and serious in this condition, so early detection is key. Researchers compared a standard test to a newer one, hoping to improve how doc…

This study aimed to understand how skin and blood vessel flexibility are related in people with Williams syndrome, a genetic disorder that can cause heart and blood vessel problems. Researchers measured the stretchiness of skin and arteries in 43 participants, including people wi…

This study aimed to understand what causes the sudden, severe pain attacks experienced by people with sickle cell disease. Researchers collected blood samples from 99 participants—both people with sickle cell and healthy volunteers—during pain attacks and between attacks. By anal…

This study aimed to find out how common and serious high blood pressure in the lungs (pulmonary hypertension) is for adults with sickle cell disease. Researchers enrolled 986 adults to check their heart health with an ultrasound and then followed up with phone calls for over thre…

This study aimed to understand how fat particles called lipoproteins move through the body in healthy people and in people with high cholesterol or other blood fat disorders. Researchers tracked these particles using tiny, safe amounts of radioactive material injected into 759 pa…

This study analyzed existing health data from 1,692 African Americans with severe high blood pressure. Researchers examined genetic, lifestyle, and social information to understand why this condition is more common and severe in this population. No new treatments were tested; the…

This study aimed to understand why African Americans have a higher risk of heart disease. Researchers recruited 670 African American adults to examine how their genes, lifestyle, and social environment (like stress and neighborhood factors) combine to affect heart health. The goa…

This study tested whether new computer processing methods could create higher-resolution, more detailed images from regular CT scans. Researchers enrolled 148 adults who were already scheduled for CT scans for heart or lung conditions. They compared the standard CT images with en…

This study aimed to understand how the immune system reacts to seasonal and H1N1 (swine flu) vaccines. Researchers collected blood and nasal samples from 203 healthy NIH employees before and after vaccination to measure their immune responses. The goal was to gather detailed info…

This study aimed to better understand and measure early heart disease in children and young adults with a rare, severe inherited form of high cholesterol. Researchers used non-invasive tests to track how the disease progresses over time in 73 participants. The information gathere…

This study aimed to better understand several rare genetic conditions that make it hard for the lungs to clear mucus, leading to frequent infections. Researchers examined 87 participants, including healthy adults and patients with these conditions, using various tests to look at …

This study aimed to discover the specific gene changes that cause rare, inherited disorders affecting cholesterol and fats in the blood. Researchers used advanced gene sequencing technology on 140 participants, including people with unusual lipid conditions and their family membe…

This study aimed to learn the best methods for collecting, processing, and storing umbilical cord blood from babies. The goal was to preserve the stem cells in this blood for potential future use in advanced treatments for sickle cell disease, such as stem cell transplants or gen…

This study aimed to understand the genetic causes of early-onset Parkinson's disease, which affects people before age 50. Researchers enrolled 31 participants, including patients and healthy family members, to collect blood and skin samples for genetic analysis. The goal was to l…

This study aimed to find clues in blood and urine that could help doctors determine the best dose of the drug sirolimus for women with LAM, a rare and progressive lung disease. Researchers followed 33 women who were starting sirolimus treatment, collecting samples after their fir…

This study aimed to understand why some people have severe asthma that doesn't respond well to standard steroid treatments. Researchers followed 171 adults—some with severe asthma, some with milder asthma, and some healthy volunteers—over several years. By comparing medical tests…

This study aimed to collect samples from the lungs and blood of people with asthma and healthy volunteers. Researchers used a procedure called bronchoscopy to gently collect cells and fluid from the airways. The goal was to better understand the inflammation and processes that ca…

This study aimed to understand how the immune cells inside the lungs react when exposed to a substance from tuberculosis (TB) bacteria. Researchers enrolled 17 healthy adults, some who had been exposed to TB and some who had not. They placed the TB test substance directly into th…

This long-term study aims to understand how having less elastic, stiffer blood vessels from birth affects different organs in people with Williams Syndrome or a related heart condition called SVAS. Researchers will observe up to 159 children and adults for up to 10 years, using s…

This study aimed to better understand CADASIL, a rare and fatal genetic disease that causes strokes and dementia. Researchers observed 20 adults recently diagnosed with CADASIL over two years, performing various tests like brain scans, blood tests, and skin biopsies. The goal was…

This study aimed to understand how myelodysplastic syndromes (MDS) develop and progress over time. Researchers followed 2,115 patients with suspected or newly diagnosed MDS, collecting blood samples and health information for years. The goal was to create a research database to h…

This study aimed to train medical staff in how to measure and understand blood fats (lipoproteins), which are linked to heart disease and clogged arteries. It involved over 1,000 patients and healthy volunteers who followed a balanced diet and had their blood tested. The main goa…

This study aimed to better describe a lung condition called idiopathic bronchiectasis, where the airways become abnormally stretched and widened for unknown reasons. Researchers observed 275 adults who had this unexplained lung damage to document their physical traits, lung image…

This study aimed to better understand how specific inherited gene changes affect the health of people with connective tissue conditions. Researchers observed 32 participants, aged 2 to 100, who already had a known gene change. Over a 3-5 day visit, participants underwent various …

This study aimed to measure how much radiation patients receive during common heart CT scans worldwide. Researchers collected data from 36 adults who needed these scans to check for heart disease. The goal was to understand current scanning practices and identify opportunities to…

This study aimed to understand how the chronic inflammation from psoriasis might increase a person's risk for heart disease and diabetes. Researchers followed 386 adults with psoriasis for up to 4 years, performing regular blood tests, heart scans, and optional skin biopsies. The…

This study aimed to understand the connection between inflammation and common health conditions like heart disease and diabetes. Researchers compared 150 adults with these conditions to healthy volunteers using blood tests, questionnaires, and special body scans. The goal was to …