Sterol metabolism disorder

This Phase 3 study tested an ointment called TMB-001 in 153 people aged 6 and older with X-linked or ARCI ichthyosis, conditions that cause dry, scaly, and cracked skin. Participants applied the ointment or a placebo daily for 12 weeks, with some continuing for maintenance. The g…

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 whether a mobile game could help children aged 11-14 with chronic kidney failure better manage their condition. 68 children were split into two groups: one used the game, the other received standard education. Researchers measured changes in BMI, blood pressure,…

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 study compared two therapies—myofeedback and neuromuscular electrical stimulation—to see which better improves arm and hand function in children aged 6 to 14 who have one-sided weakness (hemiplegia) after brain tumor surgery. Forty-five children participated, and researchers…

This study tested two strengths of a topical isotretinoin ointment (TMB-001) in 34 people aged 9 and older with congenital ichthyosis, a rare genetic skin condition causing severe scaling. The main goal was to see if the ointment could reduce scaling by at least 50% compared to a…

This study looked at whether aerobic exercise and virtual reality games could improve functional capacity, activity, and participation in children aged 6-10 living in care facilities. Sixty-three children were split into groups: one did aerobic exercise, one played VR games, and …

This study looked at whether using finger puppets, video games, or stress balls can help reduce fear and improve emotional behavior in children aged 4-6 who need inhaler therapy. 120 children participated, and researchers measured their fear levels, emotional responses, and paren…

This study looked at whether children with year-round allergic rhinitis can use a nasal steroid spray only when symptoms bother them, instead of every day. Sixty-eight children aged 6 to 18 were randomly assigned to either daily use or as-needed use of fluticasone furoate spray. …

This study looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…

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 study looked at Smith-Lemli-Opitz syndrome (SLOS), a rare genetic condition that affects cholesterol production and causes birth defects and intellectual disabilities. Researchers enrolled 130 patients and their mothers to learn more about the disease's progression, genetic …

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 tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …

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 completed study looked at how a very low-carbohydrate (ketogenic) diet changes the way the body makes cholesterol, fatty acids, and ketones. Four healthy men followed both a standard American diet and a ketogenic diet to compare the effects. The goal was to understand the bo…

This study tested a school program called SocLaLola that uses a comic book to teach children aged 8-11 about pain. The goal was to see if it improves kids' understanding of pain and reduces their fear of moving. Eighty-two students from two primary schools took part. The program …

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 completed study tracked 132 children with obstructive sleep apnea who had their tonsils removed. Researchers recorded how many had breathing problems after surgery, especially those with other health issues. The goal was to create a simple flowchart to help doctors decide wh…

This study tested a mobile health tool called CAARE to help children under 12 and their caregivers cope with emotional and behavioral challenges after a traumatic injury. Researchers measured changes in distress, PTSD symptoms, depression, and quality of life in 54 participants. …

This study looked at how children with Noonan syndrome process energy and sugar. Researchers measured insulin sensitivity in 20 children with the condition to see if they have unique metabolic traits. The goal was to better understand the disease, not to test a new treatment.

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 looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

This study involved 39 adults and children with autoinflammatory diseases like FMF and Still's disease. Researchers conducted interviews to understand how these conditions affect quality of life. The goal was to create a tool that doctors can use to better assess and address pati…

This study tested whether a whole-food plant-based diet, compared to a standard North American diet, can lower LDL cholesterol in 50 adults with heterozygous familial hypercholesterolemia (HeFH). Participants followed each diet for 28 days in a crossover design. Researchers also …