Inborn disorder of amino acid and other organic acid 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 new technique to help women with primary ovarian insufficiency (early ovarian failure) become pregnant. Doctors removed one ovary, treated small pieces of it with drugs to wake up dormant eggs, and then transplanted the tissue back into the patient. After moni…

This study tested a weekly injection of pegzilarginase (Loargys) in 3 infants under 24 months old with arginase 1 deficiency, a rare genetic disorder that causes harmful buildup of arginine. The goal was to see if the drug is safe and can lower arginine levels in the blood. The t…

This study tested a special drink called PKU UP in 16 children with phenylketonuria (PKU) aged 1 to 10 years. The drink is designed to replace some of the protein they need while keeping their phenylalanine levels safe. Researchers checked how well the children tolerated the drin…

This study looked at whether a special medical food called Express Plus is acceptable for children and adults with certain inherited metabolic disorders like PKU and maple syrup urine disease. Over 28 days, 28 participants tried the product and reported how well they liked it, ho…

This study looked at whether people with phenylketonuria (PKU) can tolerate and stick with a new protein substitute called PKU Sphere. Thirteen participants gradually increased their intake over up to 16 weeks, then continued for 4 more weeks while researchers tracked their blood…

This study tested a new drug called JNT-517 in 14 teenagers with phenylketonuria (PKU). Participants took either JNT-517 or a placebo twice daily for 28 days. The main goal was to check safety and how the drug moves through the body, while also measuring changes in blood phenylal…

This early-stage study tested an experimental oral drug called JNT-517 in healthy volunteers and people with phenylketonuria (PKU), a genetic condition that causes harmful buildup of the amino acid phenylalanine. The main goals were to check safety and how the body processes the …

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 tests whether taking a daily alpha lipoic acid supplement can reduce the return of cystine kidney stones in people with cystinuria. Half of the 50 participants will take 1200 mg of the supplement daily for three years, and the other half will take a placebo. The main g…

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 tested a drug called alemtuzumab (Campath) as a first treatment for children with hemophagocytic lymphohistiocytosis (HLH), a rare and life-threatening immune disorder. The goal was to see if it could help children survive until they could receive a stem cell transplan…

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 an engineered probiotic called CBT102-A in 15 children with phenylketonuria (PKU), a condition where the body cannot break down an amino acid called phenylalanine. The children took the probiotic or a placebo for 20 days. The goal was to see if the probiotic cou…

This completed trial tested whether PKU GOLIKE, a special food for managing PKU, works better than standard amino acid protein substitutes at controlling blood phenylalanine levels. Sixteen children with PKU, aged 5 to 16, took part in a crossover study where they tried both prod…

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 microtablet supplement called PKU EASY Microtabs Plus in 10 people with PKU aged 3 and older. The supplement is a slow-release protein substitute designed to help manage PKU. Over one week, researchers checked how well participants tolerated it (stomach is…

This study tested a special medical food called PKU explore in 7 infants with phenylketonuria (PKU) aged 6 months to 3 years. The goal was to see if babies would accept the product, tolerate it well, and maintain healthy phenylalanine levels and growth. The food replaced or suppl…

This study tested a special powdered food called TYR Sphere in 14 people with tyrosinemia or alkaptonuria. The goal was to see if patients would stick with it, tolerate it well, and keep their metabolic levels in check. Participants used the product for 4 weeks, and researchers t…

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 study tested whether a diabetes drug (SGLT2 inhibitor) could prevent cystine kidney stones in people with cystinuria, a genetic condition that causes painful, recurring stones. Ten adults took the drug to see if it would add glucose to their urine and stop cystine from formi…

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 whether a powerful genetic test called exome sequencing can find the cause of severe epilepsy in children when standard tests fail. Researchers studied 15 children with epileptic encephalopathy of unknown genetic origin. The goal was to see if this test could im…

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 tested a new device called PheCheck that measures phenylalanine levels from a fingerstick blood sample, intended for home use by people with PKU. Researchers compared its accuracy to the standard lab test in 30 participants aged 10 and older. The goal was to see if the…

This study tested whether taking a daily arginine supplement (Bioarginine) for 6 weeks can improve breathing and daily activities in people with COPD. 153 participants were randomly assigned to receive the supplement or a placebo on top of their usual inhaled medications. The goa…

This study tested whether a low-immunogenic oat variety called Saul is well-tolerated by adults with celiac disease who are in remission. Forty participants ate 50 grams of gluten-free Saul oat flakes daily for 14 days. Researchers tracked symptoms and blood markers to see if the…

This completed trial tested whether tyrosol (a compound found in olive oil) and creatine, alone or together, can improve endurance, strength, and fatigue resistance in healthy adults. Fifty active men and women aged 18–50 took supplements or a placebo for about 4 weeks. They comp…

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 people with oculocutaneous albinism who have no known genetic cause for their condition. Researchers use advanced DNA analysis techniques to search for new or hidden mutations. The goal is to improve diagnosis and understanding of this inherited condition.

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 followed 12 adults with PKU to see how their nutrition changed before and during treatment with pegvaliase (Palynziq). Researchers measured protein intake, body composition, bone density, and vitamin levels over 15 months. The goal was to understand if the drug affects…

This study followed 220 adults with phenylketonuria (PKU) in France to learn how the disease affects them later in life. Researchers looked for signs of cognitive decline, neurological problems, and how the disease impacts quality of life and social integration. No new treatment …

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 the way words sound (phonotactic probability) and how they are spelled (orthography) affect vocabulary learning in 23 children with low oral language skills (DLD). All children took part in the same 12-week program, which used real words to improve vocabu…

This study looked at how nerve cells in the eye are lost in people with multiple sclerosis (MS) even when there is no active inflammation. Researchers followed 64 adults with relapsing-remitting MS who were already part of a larger study. By using special eye scans over time, the…

This study looked at nearly 30,000 older adults (65+) having non-cardiac surgery to see if levels of homocysteine, a natural amino acid, could predict serious complications like kidney injury or death. Researchers measured homocysteine before and after surgery. The goal was to se…

This completed study from Aarhus University looked at how the urea cycle works in 10 people with end-stage kidney disease on dialysis. Participants received a 3-hour alanine infusion, and researchers measured urea production before and after dialysis. The goal was to understand u…

This completed pilot study looked at how high-intensity exercise affects children with MCADD, a rare genetic condition that makes it hard to break down certain fats for energy. Eight participants (4 with MCADD and 4 healthy controls) aged 8-17 did cycling tests and high-intensity…

This completed study gave 22 healthy men a single dose of semaglutide (Rybelsus) or a placebo pill to see how it affects cortisol and other stress hormones. The goal was not to treat any disease, but to learn more about how GLP-1 drugs interact with the body's stress system. Part…

This study looked back at the medical records of 38 people who have a specific genetic form of propionic acidemia, a rare metabolic disorder. The goal was to describe how the condition progresses over time, especially heart problems, and to create a better plan for preventive car…

This study looked at 20 adults who have a flat spot in the center of their retina (fovea plana) but no known albinism or vision problems. Researchers used eye scans and genetic tests to see if these people carry gene changes linked to albinism. The goal was to better understand w…

This study looked at how the drug Palynziq, which lowers phenylalanine levels in the blood, affects the brain and thinking abilities in adults with phenylketonuria (PKU). Six participants who were already taking Palynziq underwent brain scans and cognitive tests to measure change…

This study looked at 40 adults—some with phenylketonuria (PKU) and some healthy—to see if PKU causes low-level inflammation in the body. Researchers measured inflammatory markers in blood samples. The goal was to better understand how PKU affects overall health, not to test a new…

This small pilot study looked at whether simple breath and urine tests can measure how well muscles produce energy in children with metabolic myopathies (rare muscle disorders). Three participants completed a 12-week at-home physiotherapy program. The goal was to see if these non…

This completed study followed 12 women with PKU who chose to use PKU Sphere, a special low-protein medical food, before and during pregnancy. Researchers tracked their blood amino acid levels, diet adherence, and pregnancy outcomes. The goal was to see if the product helps mainta…

This study looked at why people with Lowe syndrome, a rare genetic disorder, may have unusual bleeding. Researchers took blood samples from 30 patients to test how well their platelets work. The goal was to confirm and understand any platelet problems that could cause bleeding ev…

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 tested whether a computer technique called radiomics can help analyze eye scans from people with vitelliform lesions, which are yellow deposits under the retina that can change over time. Researchers looked at 50 participants' OCT images to see if radiomics could disti…