Inborn carbohydrate metabolic disorder

This phase 3 trial tests the drug mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic disorder that causes red blood cells to break down too quickly. These children need regular blood transfusions. The study compares mitapivat to a placebo to see if…

This study follows 16 infants aged 6 months or younger with infantile-onset Pompe disease, a rare genetic disorder that weakens muscles and breathing. All receive alglucosidase alfa (Myozyme) as part of their routine care. Researchers track how many survive without needing a brea…

This study offers continued access to the drug mitapivat for adults with pyruvate kinase deficiency who completed an earlier Agios-sponsored trial and cannot get the drug commercially. Only 6 participants are enrolled, and the main goal is to monitor side effects. The study does …

This study tests a drug called mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic condition that causes red blood cells to break down too quickly, leading to anemia. The trial compares mitapivat to a placebo to see if it can raise hemoglobin levels…

This phase 2 trial tests whether empagliflozin, a diabetes drug also known as Jardiance, can help people with glycogen storage disease type Ib (GSD-1b). GSD-1b causes low neutrophil counts, leading to frequent infections and bowel inflammation. The study gives empagliflozin orall…

This study tests whether switching to avalglucosidase alfa is safe and more effective for people with late-onset Pompe disease whose condition has worsened on the standard treatment, alglucosidase alfa. Participants receive biweekly infusions of the new drug and are monitored for…

This study looks at the long-term safety and effects of an experimental drug called DNL310 for people with Hunter syndrome (MPS II), a rare genetic disorder. About 99 participants who completed earlier studies will receive the drug for up to 5 years. Researchers will monitor side…

This early-stage study tests a gene therapy called AT845 for adults with late-onset Pompe disease, a condition that weakens muscles. The treatment aims to deliver a working copy of the GAA gene to muscle cells. Eleven participants who have been on standard enzyme replacement ther…

This study tests a 3-month lifestyle program called the PILI Pasifika Program for Native Hawaiian and Pacific Islander adults who are overweight or have conditions like high blood pressure or diabetes. The program includes group lessons on healthy eating and physical activity, pl…

This Phase 3 study tests a new drug called JR-141 against the current standard treatment (idursulfase) in 86 people with Hunter syndrome (MPS II). The goal is to see if JR-141 can better reduce harmful substances in the brain and improve thinking skills. Participants can switch t…

This study tests a gene therapy called RGX-121 in children aged 4 months to 5 years with Hunter syndrome, a rare genetic disease that affects the brain and body. The therapy delivers a working copy of the missing gene to the central nervous system. Researchers will measure improv…

This study tests a community-based program to help Black and Latino adults with diabetes, prediabetes, high blood pressure, or obesity. Participants receive lifestyle coaching, help connecting to health and social services, and digital skills training. The goal is to see if this …

This study tests a new medicine called HM15136 for people aged 2 and older with congenital hyperinsulinism (CHI) who still have low blood sugar despite standard treatments. The medicine is given as a weekly shot for 8 weeks. The goal is to see if it is safe and helps control bloo…

This pilot study explores how a 6-month low-carbohydrate diet affects blood sugar control, body composition, and gut-brain interactions in 40 obese adults with or without glucose intolerance or diabetes. Participants follow a low-carb eating plan, and researchers measure changes …

This study tests a one-time gene therapy called GS-100 in 10 children aged 2 to 18 with NGLY1 deficiency, a rare genetic disorder. The therapy is given directly into the brain fluid to deliver a working copy of the missing gene. The goal is to improve motor skills and development…

This study checks the long-term safety of RGX-111, a gene therapy for people with MPS I (a rare genetic disorder). It follows 21 participants who already received the therapy in an earlier trial. Researchers will monitor side effects and measure changes in thinking and behavior o…

This study follows 41 children with Sanfilippo A (MPS IIIA) who previously received UX111 gene therapy in earlier trials. Researchers will monitor safety and how well the therapy controls the disease over time, using tests like the Bayley cognitive scale. No new gene therapy is g…

This study tests a gene therapy for people with pyruvate kinase deficiency, a rare blood disorder causing severe anemia. Ten participants will receive their own blood stem cells modified with a healthy gene to help produce normal red blood cells. The goal is to raise hemoglobin l…

This study tests whether semaglutide (Wegovy), a once-weekly injection, can preserve the pancreas's ability to produce insulin and reduce liver fat in 60 obese youth with prediabetes or early type 2 diabetes and fatty liver disease. Participants receive either semaglutide or a pl…

This study tests a new enzyme replacement therapy called avalglucosidase alfa in babies with infantile-onset Pompe disease, a rare genetic disorder that causes severe muscle weakness and breathing problems. The treatment is given through an IV every other week for up to 4 years. …

This study tests a video-based healthy lifestyle program for adults aged 50 to 74 who are overweight and have conditions like prediabetes, type 2 diabetes, or high blood pressure. Participants use a tablet, scale, and activity tracker at home, and some get extra support from a co…

This study tests a new gene therapy for boys with Hunter syndrome, a genetic disorder that damages the brain and body. The therapy uses the child's own blood stem cells, modified to produce the missing enzyme, and aims to stop disease progression. Five boys aged 3 to 22 months wi…

This study tests a gene therapy called RGX-111 for people with MPS I, a rare genetic disorder that damages the brain and body. The therapy delivers a working copy of the missing IDUA gene directly into the fluid around the brain. The trial aims to check if the treatment is safe a…

This early study tests a daily injection of vosoritide (Voxzogo) in 6 children aged 5 to 10 with MPS IVA or VI, rare conditions that cause growth problems. The main goal is to see if the drug is safe and tolerable over 96 weeks. Researchers will also look at changes in height and…

This phase 2 trial tests a new enzyme replacement therapy called avalglucosidase alfa (Nexviazyme) in 22 children with infantile-onset Pompe disease who are not responding well to standard treatment. The study aims to see if the new drug is safe and can improve outcomes. Particip…

This study tests whether probiotics can control blood sugar as well as metformin in people with prediabetes. Thirty adults aged 31-60 with prediabetes will take either probiotics or metformin for 13 weeks. The goal is to see if probiotics offer a new treatment option to prevent t…

This study is an extension of a previous trial testing JR-141, a drug given weekly by IV, for people with Hunter syndrome (a rare genetic disorder). It aims to see if the drug remains safe and effective over a longer period. About 80 participants who completed the earlier study w…

This study is testing the long-term safety of dasiglucagon, a drug given as a continuous injection under the skin, in children with congenital hyperinsulinism (a condition causing dangerously low blood sugar). The trial includes 42 children who completed earlier studies. Research…

This study tests an investigational drug called RZ358 for people with congenital hyperinsulinism, a rare condition causing dangerously low blood sugar. The trial involves 56 participants aged 3 months to 45 years who still have low blood sugar despite standard treatments. Over 24…

This study looks at 4,000 adults with prediabetes and heart disease to see if a low-intensity statin combined with ezetimibe is better than a high-intensity statin alone at preventing new diabetes. Participants will be followed to track diabetes development and heart health. The …

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This Phase 3 trial tests a new gene therapy called OTL-203 against the standard stem cell transplant for children with Hurler syndrome, a rare genetic disorder. The therapy uses the child's own blood stem cells, modified to produce the missing enzyme, aiming to improve survival a…

This early-stage trial tests an mRNA drug called mRNA-3745 in 15 adults and children with glycogen storage disease type 1a (GSD1a), a rare genetic condition that causes dangerously low blood sugar. The drug is given by IV infusion and aims to help the body produce a missing enzym…

This study tests whether replacing a patient's own red blood cells with healthy donor cells can improve brain function in people with GLUT1 deficiency syndrome, a rare genetic condition that causes seizures and movement problems. The approach aims to boost glucose delivery to the…

This study aimed to see if giving a combination of immune-suppressing drugs (rituximab, methotrexate, and IVIG) alongside the standard enzyme therapy ELAPRASE could prevent patients with Hunter syndrome from developing harmful antibodies. It was designed for boys who had never re…

This study tests a one-time gene therapy for children with Hurler syndrome, a severe genetic disorder. Doctors take the child's own blood stem cells, add a working copy of the missing gene, and put them back. The goal is to help the body produce the enzyme it lacks, potentially s…

This study looks at whether doing resistance exercise with different levels of effort can improve blood sugar control in people with prediabetes. 48 adults aged 18 to 75 with prediabetes will be assigned to either high-effort or low-effort resistance training. Researchers will me…

This study tests a drug called DNL126 in 20 children with Sanfilippo syndrome type A, a rare genetic disorder that causes brain damage. The drug is given through a vein and aims to reduce harmful substances in the brain and body. The trial lasts about 6 months, with options to co…

This study is a follow-up for people with Hunter syndrome and cognitive problems who already took part in earlier studies. It aims to check the long-term safety of the drug idursulfase-IT given with Elaprase. About 6 children and adults will continue their same treatment to monit…

This study follows 17 people with Pompe disease who have already taken part in earlier trials of avalglucosidase alfa (Nexviadyme). It aims to check the drug's long-term safety and effectiveness by giving it every two weeks as an IV infusion. The study will continue until the dru…

This study tests a new treatment called cipaglucosidase alfa/miglustat in children (0 to under 18 years) with late-onset Pompe disease. The goal is to see if it is safe and how well it works. Participants either have never had enzyme therapy before or have been on it for at least…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study was designed to compare the standard Pap smear with a new blood test that looks for three proteins linked to cervical cell changes. It planned to include adults aged 18-85 in good health. However, the study was withdrawn before enrolling any participants, so no results…

This study aims to create a simple test battery to determine fall risk in people with neuromuscular disorders, such as muscular dystrophy or ALS. Researchers will assess 108 participants using several physical tests like walking, standing, and rising from a chair. The goal is to …

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study tests whether sending personalized screening invitations based on a person's race, ethnicity, and diabetes risk, plus offering phone navigation for those who don't respond, leads to more people getting tested for diabetes compared to generic invitations or usual care. …

This study tests whether a 6-week cooking education program can help prevent type 2 diabetes in adults who are at risk or have prediabetes, especially in underrepresented minority communities. Participants take cooking classes and some wear a continuous glucose monitor. The goal …

This pilot study tests whether pharmacist-led lifestyle education, wellness tools, and healthcare referrals can help hospitality workers in New Orleans prevent diabetes. About 300 adults with prediabetes or high risk will take part for one year. The goal is to see if this approac…

This study tests a web application called VA|PREVENTION that uses a virtual coach to help adults at high risk for type 2 diabetes make healthier choices. 180 participants will either use the app or receive a standard guidebook. Researchers will measure changes in waist circumfere…

This study tests a program called "Paso a Paso" designed to help Spanish-speaking adults at risk for diabetes. About 45 participants will take part to see if the program is practical and effective. The goal is to prevent diabetes by helping people lose weight and manage blood sug…

This study looks at whether a diabetes prevention program delivered via telehealth works as well as the same program done in person for adults aged 65 and older with prediabetes. About 238 participants will be randomly assigned to either a telehealth or in-person group, and resea…

This study looks at how dried figs affect blood sugar and insulin in adults with pre-diabetes. Five participants will eat figs or a calorie-matched control breakfast, and researchers will measure blood glucose, insulin, and fig polyphenol levels over 24 hours. The goal is to see …

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This study tests whether an 8-week nutrition education program focused on fiber-rich foods (like fruits, vegetables, and whole grains) is acceptable and helpful for people with diabetes, prediabetes, or obesity. Researchers will track participants' weight and dietary changes over…

This study tests whether adalimumab, a drug used for arthritis, can reduce pain and improve joint movement in people with MPS I, II, or VI. It includes children and adults aged 5 and older who have significant pain and limited joint motion. Participants receive either adalimumab …

This study is a global registry that will follow about 500 people with pyruvate kinase (PK) deficiency, a rare inherited anemia, for up to 9 years. Researchers will collect medical data to better understand the disease's natural history, treatments, and complications. No new drug…

This study surveys 500 doctors in Egypt to see how well they understand prediabetes—a condition where blood sugar is high but not yet diabetic. Doctors answer questions about risk factors, diagnostic tests, and lifestyle recommendations. The goal is to find gaps in knowledge that…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

This study was designed to see if giving a carbohydrate drink before bariatric surgery helps control blood sugar after the operation, compared to the standard fasting approach. It planned to enroll patients with high blood sugar who were scheduled for weight-loss surgery. However…

This study looks at whether diabetes or blood sugar problems can worsen thinking and memory issues in people with myotonic dystrophy type 1. Researchers will use MRI brain scans and thinking tests over 4 years to track changes. The goal is to understand why some patients have mor…

This study is testing a new type of clinic that screens people with prediabetes and type 2 diabetes for several hidden health problems at the same time, including fatty liver disease, sleep apnea, and heart failure. The goal is to see how common these undiagnosed conditions are a…

This pilot study compares the effects of daily erythritol (a sugar substitute) versus regular sugar on insulin resistance and blood clotting in 30 healthy adolescents aged 14-18. Participants consume either erythritol or sucrose for 5 weeks, and researchers measure changes in glu…

This study looks at how sleep apnea might cause prediabetes to turn into diabetes. Researchers will use CPAP machines and niacin infusions in 300 overweight, prediabetic adults with sleep apnea to measure changes in blood chemicals. The goal is to understand the biological steps …

This study follows 207 people with primary hyperoxaluria type 1 (PH1), a rare kidney disease, to see how the condition progresses over time. Researchers are also checking the long-term safety and real-world effectiveness of the drug lumasiran. Participants are not given any new t…

This study looks at how fructose in meals influences fat production and blood sugar levels in people with prediabetes or insulin resistance. Researchers will give participants special labeled fructose or pyruvate in liquid meals to track these processes. The goal is to better und…

This study was designed to see if adding the amino acid isoleucine to a healthy, low-isoleucine diet would change how the body responds to insulin in people with obesity and prediabetes. It planned to enroll adults with a BMI of 30 or higher who also had metabolic syndrome. The s…

This study looks at people with late-onset Pompe disease to measure antibodies against a virus used in gene therapy and against the standard enzyme replacement therapy. It also checks for biomarkers in blood and urine. About 119 teenagers and adults will give samples over 2 years…

This study looks at whether people with Fabry, Gaucher, or Hunter disease are more likely to continue their IV treatment when it's given at home versus at a hospital. Researchers will review existing data from 222 patients in Mexico. No new treatments are given; the goal is to un…

This study looks at how lactose intolerance affects the gut's barrier and inflammation in 200 adults with IBS-like symptoms. Researchers will measure markers in stool samples to see if they relate to symptom severity. The goal is to better understand the link between lactose into…

This study follows 30 people with mucopolysaccharidoses (MPS) over three years to see how their heart and arteries change. Researchers use neck ultrasounds and blood tests to measure artery thickness, stiffness, and signs of inflammation. The goal is to better understand cardiova…

This study aimed to see if giving extra oxygen at night could improve blood sugar control in people living at high altitudes who have sleep-disordered breathing. It was designed for permanent residents of Puno, Peru, but was withdrawn before any participants were enrolled. No res…

This study looks at whether genetic differences in digesting carbohydrates cause Irritable Bowel Syndrome (IBS) symptoms like belly pain and bloating. Researchers will compare 2000 people with IBS to healthy controls to find how common these gene variants are. The goal is to bett…

This study watches how the enzyme drug laronidase moves through the bodies of 13 children with MPS IH (a rare genetic disease) before and after they get a stem cell transplant. The goal is to learn what affects drug levels, not to test a new treatment. Children aged 0-3 who are a…

This study follows 20 newborns and children diagnosed with late-onset Pompe disease through newborn screening. Researchers will track their health for up to 4.5 years to document early muscle and joint symptoms, biomarkers, and quality of life. The goal is to learn when to start …

This study was designed to see if a new monitoring algorithm could detect early signs of ovarian damage in women and girls who had cancer treatment. Researchers planned to compare a group using the new algorithm with a group that received standard care. However, the study was wit…

This study follows 300 adults with diabetes, prediabetes, or overweight who fast for at least five days at a clinic. Researchers track changes in weight, blood sugar, and well-being during the fast and for three months after, using questionnaires, continuous glucose monitors, and…

This study tests whether a heart failure medication called Entresto (sacubitril/valsartan) can boost a natural hormone that helps control blood sugar after meals. Researchers will give the drug or a comparison drug (valsartan) to 25 adults with type 2 diabetes or prediabetes and …