Severe combined immunodeficiency due to DCLRE1C deficiency

This study looked at whether the HPV vaccine works in girls aged 9 to 17 who are taking medicines that weaken their immune system, such as after an organ transplant or for diseases like lupus. The goal was to see if their bodies produce enough antibodies to protect against HPV. T…

This early-phase trial tested whether injecting special immune-building cells (HTLPs) could help children with severe combined immunodeficiency (SCID) rebuild their immune system faster after a partially matched stem cell transplant. Only 4 children took part. The goal was to see…

This early-stage study tested two drugs, cabozantinib and pamiparib, together in 44 people with advanced solid tumors that had stopped responding to standard treatments. The goal was to find the safest dose and understand side effects. The drugs work by blocking certain enzymes t…

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 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 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 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 investigates how obesity affects the way the body processes intravenous immune globulin (IVIG), a treatment for immune deficiencies. Researchers measured body composition and blood levels of IVIG in 40 obese and normal-weight patients to find the best dosing strategy. …

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 collected blood, saliva, stool, urine, and skin samples from 19 people with unknown or poorly understood immune system problems. The goal was to learn how different parts of the immune system work together. No treatments or drugs were tested. Participants were followed…