Inborn errors of metabolism

This study tested an experimental drug called ARO-ANG3 in 18 people with homozygous familial hypercholesterolemia (HoFH), a rare genetic condition causing extremely high cholesterol. Participants received injections of the drug and were monitored for safety and cholesterol change…

This study looked at the long-term safety of the drug NBI-921352 for people with a rare genetic seizure disorder called SCN8A-DEE. It was an extension of an earlier study, and participants took the drug alongside their usual seizure medications. The study was stopped early and on…

This phase 2 trial tested two different drug combinations to prevent graft-versus-host disease (GVHD) in 150 people with blood cancers receiving a stem cell transplant from an unrelated donor. Both combinations used cyclosporine and sirolimus, plus either mycophenolate mofetil or…

This study tested a combination of two drugs, ibrutinib and ixazomib, in 21 people with Waldenström macroglobulinemia, a rare blood cancer. The goal was to see if the combo could shrink or control the cancer. The trial was stopped early, so results are limited, but the approach a…

This study tested an mRNA therapy called mRNA-3705 in 18 people with a rare genetic condition called methylmalonic acidemia, which causes harmful acid buildup. The therapy aimed to help the body produce a missing enzyme to lower acid levels. The trial was terminated early, so fin…

This study tested an experimental drug called KRRO-110 in healthy volunteers and people with Alpha-1 Antitrypsin Deficiency (AATD), a genetic condition that can cause lung and liver damage. The goal was to check safety and how the drug moves through the body. However, the trial w…

This study tested whether the statin drug rosuvastatin, taken daily with supplements, could improve bone density and reduce heart disease risk in adults with long-term spinal cord injury. Only 8 people enrolled before the trial was stopped early. Participants received either rosu…

This early-stage trial tested a new drug called LY3885125 in people with high cholesterol (dyslipidemia) and non-alcoholic fatty liver disease (NAFLD). The main goal was to check safety and how the body processes the drug. The study was terminated, meaning it stopped early, so it…

This study tested a new drug called belcesiran in people with a genetic condition called alpha-1 antitrypsin deficiency that causes liver damage. The goal was to see if the drug is safe and can lower harmful protein levels in the liver. The trial was stopped early, so results are…

This study tested high doses of Ambroxol, a common cough medicine, in 12 children aged 3 to 18 with Type 3 Gaucher disease, a rare genetic disorder affecting the brain and body. The goal was to see if it is safe and can improve movement problems like ataxia. The trial took place …

This study looked at two ways of giving growth hormone to short children who were born small for their age. The goal was to see which dosing method works better for growth and has fewer side effects on metabolism. Only 10 children took part before the study was stopped early.

This study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …

This study looked at whether a plant-based diet and lifestyle changes could help people with type 2 diabetes, prediabetes, or obesity improve their health. Researchers aimed for diabetes remission (normal blood sugar without medication for at least 3 months) or significant weight…

This study looked at whether using a combination of weight-loss medications could help people with obesity lose weight and improve the health of their blood vessels. It involved 128 adults aged 40-75 who were obese and had at least one heart risk factor. The study was stopped ear…

This study tested a new amino acid formula called PKU GOLIKE in people aged 16 and older with phenylketonuria (PKU). The goal was to see if it could better control daily swings in blood phenylalanine levels compared to standard treatment. The study was stopped early, so results a…

This phase 2 study tested a treatment called brexucabtagene autoleucel, a CAR T-cell therapy made from a patient's own immune cells, for four rare B-cell cancers: Waldenstrom macroglobulinemia, Richter transformation, Burkitt lymphoma, and hairy cell leukemia. The trial enrolled …

This Phase 3 trial tested an oral drug called venglustat in 75 adults and children with late-onset Tay-Sachs or Sandhoff disease, rare genetic disorders that cause progressive nerve damage. The drug aimed to lower toxic fat buildup in the brain and slow disease worsening. However…

This early-phase study tested a drug called ARC-AAT in healthy volunteers and people with Alpha-1 Antitrypsin Deficiency (AATD), a genetic condition that can lead to lung and liver damage. The main goal was to check safety and how the drug affects levels of a key protein in the b…

This study tested an experimental drug called tildacerfont in 67 children aged 2 to 17 with congenital adrenal hyperplasia (CAH), a genetic condition that disrupts hormone production. The goal was to see if adding this once-daily pill to standard steroid treatment could improve d…

This trial tested a special dialysis device (MEX-CD1) designed to remove extra copper from the blood of people with Wilson's disease, a genetic condition that causes copper buildup. The study planned to give 5 to 10 treatments over consecutive days and check if the device worked …

This early-phase study tested a drug called abiraterone acetate (normally used for prostate cancer) in 4 children with congenital adrenal hyperplasia (CAH). The goal was to see if it could lower high male hormone levels and reduce the need for strong steroid medications that can …

This early-stage trial tested a gene therapy called SBT101 for adrenomyeloneuropathy (AMN), a rare nerve disease that causes walking difficulties. Eight adults received either the therapy or a sham procedure. The study was terminated early, so we have limited data on safety and e…

This early-phase trial tested a new immunotherapy approach for children with DIPG, a rare and aggressive brain stem tumor. After standard radiation and chemotherapy, patients received special vaccines and immune cells designed to attack the tumor. The study was small (11 particip…

This study tested an experimental drug called NBI-921352 in people aged 2 to 21 with a rare, severe form of epilepsy caused by a change in the SCN8A gene. The goal was to see if adding this drug to their current seizure medicines could reduce how often they had seizures. The tria…

This phase 2 trial tested a drug called REGN4461 (mibavademab) in 20 people with familial partial lipodystrophy, a rare condition causing abnormal fat distribution and metabolic problems. The study aimed to see if the drug could lower high triglycerides and improve blood sugar co…

This study tested a daily tablet called Tildacerfont in 100 adults with classic congenital adrenal hyperplasia, a condition where the body can't make certain hormones properly. The goal was to see if the drug could safely reduce the high doses of steroids patients need to take. T…

This study aimed to see how two antipsychotic drugs, aripiprazole and ziprasidone, affect heart risk in people with schizophrenia, schizoaffective disorder, or bipolar disorder. Researchers measured blood fats and heart electrical changes in 48 adults over 12 months. The trial wa…

This study tested an oral drug called epalrestat, originally used for diabetic nerve pain, in children with PMM2-CDG, a rare genetic disorder that causes nerve problems and other symptoms. The trial aimed to see if the drug could safely improve nerve function and metabolic marker…

This study tested whether pemafibrate, a drug that lowers triglycerides, could reduce heart attacks, strokes, and heart-related deaths in over 10,000 people with type 2 diabetes and high triglycerides. Participants took either pemafibrate or a placebo twice daily. The trial was t…

This study tested a new medicine called ARCT-810 in 8 people aged 12 to 65 with ornithine transcarbamylase (OTC) deficiency, a rare genetic disorder that causes dangerous ammonia buildup. The main goal was to check the drug's safety and how the body processes it. The trial was st…

This phase 3 trial tested the drug miglustat (Zavesca) in 30 infants with Sandhoff or Tay-Sachs diseases, rare genetic disorders that destroy nerve cells. The goal was to see if the drug could reduce hospitalizations, seizures, and feeding problems while improving motor function.…

This study tested an oral drug called duvoglustat in adults with Pompe disease, a rare genetic disorder that causes muscle weakness. Only 3 people took part, and the study was stopped early. Researchers looked at safety and whether the drug could improve walking distance and othe…

This study tested an experimental drug called VX-864 in 14 people with a severe form of alpha-1 antitrypsin deficiency (PiZZ genotype). The goal was to see if the pill could raise protective protein levels in the blood and reduce harmful buildup in the liver. The trial was termin…

This early-phase trial tested the drug pomalidomide in 15 people with Waldenstrom macroglobulinemia, a rare blood cancer that had returned or was not responding to prior treatments. The goal was to find the safest dose and see how the drug affects the immune system and cancer gro…

This early-stage trial tested a gene therapy called AXO-AAV-GM2 in children with Tay-Sachs or Sandhoff disease, rare and fatal genetic brain disorders. The therapy delivers healthy genes directly into the brain and spinal fluid to try to restore a missing enzyme. The study was te…

This small phase 2 trial tested whether the drug Panhematin could prevent acute attacks in people with certain types of porphyria. Only 13 participants were enrolled before the study was terminated early. Researchers tracked attacks and serious side effects, but the limited data …

This study looked at whether blowing a fan with aromatherapy on the face can help reduce breathlessness in people with terminal illness. The trial planned to enroll 26 adults who were near the end of life and had trouble breathing. Participants were randomly assigned to receive a…

This pilot study tested whether MitoQ, an antioxidant supplement, could improve bladder symptoms like urgency and frequency in women aged 50 and older with metabolic syndrome. Twenty participants took either MitoQ or a placebo for 4 months, tracking their symptoms through questio…

This early-stage study aimed to compare how a tablet form of tafamidis is absorbed in the body compared to the existing capsule form. It involved 24 healthy adults who took a single dose of each form under fed conditions. The study was terminated early, so results may be limited.

This study aimed to find out how common sperm problems are in men with Fabry disease. Researchers planned to check sperm samples from 22 men aged 18 to 65. The study was stopped early, so results are limited.

This study looks at adults with phenylketonuria (PKU) who were diagnosed as newborns and treated with a special diet. Researchers want to see if how long and how strictly they followed the diet as children affects their intelligence (IQ) as adults. The goal is to use this informa…

This pilot study aims to understand why people with pseudohypoparathyroidism type 1A (PHP1A) have a higher risk of type 2 diabetes. Researchers will measure insulin sensitivity and beta-cell function in 14 participants with PHP1A or related conditions, comparing them to matched h…

This study aimed to help children aged 6-8 from low-income families learn how to avoid foods they are allergic to. The program used fun, hands-on activities to teach safety skills. The study was stopped early, so we don't have clear results on whether it worked.

This study aimed to understand why some people taking the cancer drug ibrutinib develop heart issues like atrial fibrillation (irregular heartbeat) and high blood pressure. Researchers planned to follow 8 patients with blood cancers, using heart tests and blood markers to try to …

This study tested whether a 16-week program of yoga and lifestyle changes could affect gene activity (micro RNA) and heart disease risk factors in 16 adults with coronary artery disease. Participants had either undergone a heart procedure or had non-obstructive heart disease with…

This study followed 7 people with Mucolipidosis Type IV (MLIV) to learn how the disease naturally progresses. Researchers used tests like neuropsychological exams, blood and urine tests, and brain MRIs to find better ways to measure the disease. The goal was to improve future cli…

This study followed 65 adult men with a rare inherited nerve disease called AMN (a form of spastic paraplegia) to understand how their symptoms change over time. Researchers collected data on walking ability and quality of life. The goal was to fill gaps in knowledge about the di…

This study aims to find out how common transthyretin amyloidosis cardiomyopathy (ATTR-CM) is in Russian patients with a certain type of heart failure. Researchers will review medical records and then invite some patients for extra heart tests to confirm or rule out ATTR-CM. The g…

This study follows up on children with Krabbe disease who received a one-time gene therapy infusion (FBX-101) in earlier trials. Researchers will monitor safety and measure motor skills over time. Only 2 participants are enrolled, so results are very limited.