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This study looked at the long-term safety of a drug called ARO-APOC3 in adults with dyslipidemia (abnormal fat levels in the blood). Participants who completed a previous 12-month study could continue receiving the drug every 3 or 6 months. The goal was to see if the drug remains…

This study tested a low dose (10 mg) of the statin drug rosuvastatin in 242 Korean adults with high cholesterol or heart disease risk. The goal was to see how much it lowered 'bad' LDL cholesterol after 8 weeks. Results help guide cholesterol treatment in this population.

This study tested whether a drug called alirocumab, which lowers cholesterol, can reduce heart disease risk in people with HIV. The trial involved 118 adults aged 40 and older with well-controlled HIV and high heart disease risk. Participants received either alirocumab or a place…

This early-stage study tested a new medicine called ARO-ANG3 in 93 people, including healthy volunteers and patients with high cholesterol or high triglycerides. The main goal was to check if the drug is safe and how the body processes it. This research helps determine if the dru…

This study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…

This study tested the long-term safety of a drug called LP352 (bexicaserin) in 41 people aged 12 to 65 with severe epilepsy syndromes like Dravet or Lennox-Gastaut. Participants took the drug three times daily for up to 52 weeks. The main goal was to check for side effects, while…

This study looked at the long-term safety of a drug called fenfluramine (ZX008) for people with rare seizure disorders like Dravet syndrome and Lennox-Gastaut syndrome. A total of 412 participants who had completed earlier studies took the drug and were monitored for side effects…

This study tested whether an iPad game (Play.Care) could help diagnose autism spectrum disorder (ASD) in children aged 2.5 to 5 years. The game measures how children move while playing, since movement differences may be early signs of autism. Researchers compared the game's resul…

This study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…

This pilot study tested a community-based group programme called 'Encompass' for parents of children under 5 with complex neurodisability. Fifteen parents in East London attended ten group sessions over six months. The study aimed to see if the programme was feasible and acceptab…

This completed trial tested a 5-session group program for siblings and parents of children with chronic illness. The goal was to improve sibling mental health, family communication, and quality of life. 288 families participated, with some receiving the program immediately and ot…

This study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …

This study aimed to find new gene changes that cause rare lipid disorders. Researchers used advanced genetic testing to look at many genes at once in 140 people and their relatives. The goal was to discover causes that older methods missed.

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

This study looked at how fat-carrying particles called lipoproteins work in healthy people and those with high cholesterol or other lipid disorders. Researchers injected tiny, safe amounts of radioactive lipoproteins to track them in the body. The goal was to better understand ho…

This study looked at 99 people with high heart risk to understand how a protein called CETP affects plaque buildup in arteries. Researchers measured CETP activity, artery thickness, and calcium scores. The goal was to learn more about heart disease, not to test a new treatment.

This study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…

This study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…

This completed study looked at whether children with neurodevelopmental disorders (like mitochondrial disease, cerebral palsy, or developmental delay) have fewer small nerve fibers in their skin, which could cause pain. Researchers took small skin biopsies from 203 children—some …

This study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…

This study tested a set of questions to better identify suicide risk in young people aged 8–17 with autism or other neurodevelopmental disorders. Researchers asked 278 participants and their parents about thoughts of self-harm and understanding of death. The goal was to create a …