Inborn disorder of energy metabolism

This study tests a drug called triheptanoin, already approved for similar conditions, to see if it can prevent dangerously low blood sugar in people with MCADD, a rare inherited disorder. About 24 participants aged 4 and older will take the medication and be monitored for safety …

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 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 follows 150 people with long-chain fatty acid oxidation disorders (LC-FAOD) to check the long-term safety of their treatment, including for pregnant women and their babies. Researchers track serious side effects and disease complications. The goal is to better understa…

This study is testing the long-term safety of a daily oral drug called zagociguat in 44 adults with MELAS, a rare genetic disease that affects energy production in cells. All participants previously completed a lead-in study of the same drug. Researchers will monitor side effects…

This phase 2 study tests a combination of two nucleoside drugs, doxecitine and doxribtimine, in 47 people with thymidine kinase 2 (TK2) deficiency, a rare genetic disorder that weakens muscles. Participants already receiving nucleoside therapy continue treatment to see if the dru…

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 program offered vatiquinone, an experimental liquid medication, to patients with inherited mitochondrial diseases like Leigh syndrome who had already completed a previous safety study. The goal was to continue treatment for those who might benefit, but enrollment is now clos…

This study tests whether a person's own stem cells can be safely injected into the spinal fluid to treat multiple system atrophy (MSA), a rare and serious brain disease. About 30 adults aged 30-80 with MSA will receive the treatment. The main goal is to check for side effects, an…

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 whether high-dose nicotinamide (vitamin B3) is safe and can help people with dominant optic atrophy, a rare genetic disease that slowly damages the optic nerve and causes vision loss. Researchers will give 25 adults 3 grams of nicotinamide daily and monitor for s…

This study tests the drug sirolimus (rapamycin) in 15 people aged 6 months to 55 years with genetically confirmed Leigh syndrome, a rare and serious mitochondrial disease. The goal is to see if the drug is safe and can help with symptoms like muscle weakness and developmental del…

This Phase 2b trial tests an oral drug called zagociguat in 43 adults with MELAS syndrome, a rare genetic disorder that causes fatigue, muscle weakness, and stroke-like episodes. Participants take either 15 mg, 30 mg, or a placebo daily for 12 weeks. The study measures changes in…

This study is testing a new device called a multichannel vestibular implant for people who have lost most or all of their balance function due to inner ear damage. The implant electrically stimulates the balance nerve to help improve stability and vision during movement. Up to 30…

This expanded access program gave a single patient with Leber Hereditary Optic Neuropathy (a genetic cause of vision loss) an experimental gene therapy called GS010. The treatment was injected into both eyes to test safety. Only one person was involved, so the results are very li…

This phase 3 trial tests a gene therapy called NR082 for Leber's hereditary optic neuropathy (LHON), a genetic condition that causes rapid vision loss. About 95 people aged 12 to 75 with a specific ND4 mutation will receive a single injection of the therapy or a sham procedure. T…

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 two natural substances, deoxythymidine and deoxycytidine, in people with TK2 deficiency, a rare genetic condition that causes muscle weakness and breathing problems. The goal is to see if these nucleotide precursors can help cells make more mitochondrial DNA and …

This study tests whether nicotinamide riboside, a form of vitamin B3, can improve walking distance and muscle function in adults with mitochondrial myopathy, a rare muscle disorder. Thirty-four participants receive either the supplement or a placebo for several months. The main g…

This study tests a new medicine called PYC-001, given as an injection into the eye, for people with a genetic condition that damages the optic nerve (OPA1 optic atrophy). The main goal is to check if the treatment is safe and tolerable. About 18 adults will receive a single dose,…

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 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 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 tests whether sodium phenylbutyrate, a drug already approved for another condition, can help people with MCAD deficiency (a genetic disorder that affects fat breakdown). About 24 participants aged 10 and older will take the drug for 4 weeks. Researchers will check for …

This study tests two drugs, nivolumab and cabozantinib, together in 60 people with advanced or metastatic non-clear cell kidney cancer. The goal is to see how well the combination shrinks tumors. Participants take cabozantinib daily and receive nivolumab infusions every two weeks…

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 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 …

This study tests a drug called triheptanoin in 8 adults with MCADD, a rare condition that can cause dangerously low blood sugar. The goal is to see if the drug is safe and can prevent hypoglycemia during fasting. Participants will stay overnight at a hospital for monitoring and b…

This study tests a personalized workplace intervention for 124 Dutch workers with Parkinson's disease, cerebellar ataxia, hereditary spastic paraparesis, or slowly progressive neuromuscular/mitochondrial disorders. A trained facilitator helps employees and their managers identify…

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 a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

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 follows up to 90 children and young adults with mitochondrial liver diseases to learn how these conditions progress over time. Researchers will collect medical data and samples to better understand the diseases and find markers that predict outcomes. The goal is to imp…

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 is testing a new way to care for people with rare diseases. It will use advanced genetic testing and a team of specialists to help diagnose patients faster and coordinate their care better. The study involves 136 participants with certain rare diseases and aims to redu…

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 early-phase study is testing whether combining a low-carbohydrate diet with a diabetes drug (ertugliflozin) can safely produce moderate ketone levels in healthy adults. Nine participants will follow a gradually reducing carb diet while taking the drug, all under close superv…

Researchers at Arkansas Children's Hospital are studying how mitochondria work in children with autism spectrum disorder. They aim to identify distinct patterns of mitochondrial dysfunction that may relate to developmental delays. The study involves up to 5 visits with blood draw…

This study uses special MRI scans to measure how well muscles produce energy in people with mitochondrial disease. Researchers hope to learn more about the condition and develop a new tool to help diagnose and track it. The study involves 230 participants aged 7 to 75 with suspec…

This study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…

This study looks at how problems with mitochondria—the tiny power plants inside cells—might affect bone health. Researchers will compare 30 people with certain genetic changes that cause mitochondrial dysfunction to healthy volunteers. They will take blood, bone marrow, and bone …

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 …