Inborn disorder of purine or pyrimidine metabolism

This study tested whether adding a smartphone app with short videos on mental health, diet, exercise, and insulin adjustment to standard care could improve blood sugar control and birth weight in pregnant women with diabetes. Over 600 women participated. The goal was to see if th…

This study tested a drug called mitapivat (AG-348) in 52 adults with pyruvate kinase deficiency, a rare genetic condition that causes red blood cells to break down too quickly, leading to anemia. The goal was to see if different doses of the drug are safe and help control the dis…

This study followed 30 adults with type 1 diabetes who used the Smartguard system, a partially automated insulin pump that can pause insulin delivery when it predicts a low blood sugar. The goal was to see how well the system works in everyday life, focusing on time spent in the …

This study looked at two different ways to manage blood sugar in pregnant women with MODY2 diabetes, a genetic condition that affects insulin release. The goal was to see if using ultrasound to guide insulin treatment could prevent the baby from growing too large. 46 women took p…

This study tested the drug allopurinol in 8 children and adults with adenylosuccinate lyase deficiency (ADSL), a rare genetic disorder that can cause autism, seizures, and developmental delays. Researchers measured changes in thinking, daily skills, and seizure control over 12 mo…

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 babies with a rare, permanent form of diabetes caused by specific gene changes could switch from daily insulin injections to an oral pill called glibenclamide. Nineteen infants took part. The goal was to see if the pill could control their blood sugar an…

This study looked at the long-term safety and effectiveness of the drug mitapivat in 90 adults with pyruvate kinase deficiency, a rare genetic blood disorder that causes red blood cells to break down too quickly. Participants had already completed earlier studies of mitapivat and…

This phase 1 trial tested a gene therapy called RP-L301 in 4 people with pyruvate kinase deficiency, a rare inherited blood disorder that causes severe anemia and often requires frequent blood transfusions. The treatment uses the patient's own blood stem cells, which are modified…

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 looked at how often people with certain blood cancers or related conditions have an acquired deficiency of an enzyme called pyruvate kinase, which can cause anemia. Researchers took a single blood sample from 18 participants to measure enzyme activity and check for rel…

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…