Inborn errors of metabolism

This study looks at the long-term safety of a daily pill called lucerastat for adults with Fabry disease, a rare genetic disorder. About 107 people who completed a previous study will take the drug and be monitored for side effects over several years. The goal is to see if lucera…

This phase 3 trial is testing whether adding the immunotherapy drug atezolizumab to standard chemotherapy can help prevent cancer from coming back in people with stage III colon cancer that has a specific DNA repair defect (dMMR). About 712 participants will receive either chemo …

This study tests the long-term safety and effectiveness of an experimental drug called BBP-418 (ribitol) in people with limb-girdle muscular dystrophy type 2I/R9, a rare genetic muscle-weakening disease. Participants who completed a previous study will take BBP-418 orally twice d…

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 study tests a two-step treatment for people with relapsed or refractory B-cell Non-Hodgkin lymphoma. First, patients receive a bispecific antibody therapy (Obinutuzumab and Glofitamab) to help the immune system attack cancer cells. Then, they get an infusion of CD19-CAR T ce…

This study tests a combination of two drugs, ixazomib and rituximab, in people with slow-growing B-cell non-Hodgkin lymphoma. The goal is to see how well the drugs shrink or control the cancer. About 33 adults with different types of this lymphoma are taking part.

This study tests a new oral solution called NPI-001 in people with cystinosis, a rare disease that causes cystine buildup in cells. Researchers want to see if NPI-001 is safe and works better than the current drug cysteamine. About 12 participants aged 10 and older will stop thei…

This study tests a gene therapy called PBKR03 for babies with early infantile Krabbe disease, a severe genetic disorder that damages the brain and nerves. The treatment delivers a working copy of the GALC gene to the brain and body. Researchers will check safety and find the best…

This study tests a single dose of PBGM01, a gene therapy delivered directly into the fluid around the brain and spinal cord, in children with GM1 gangliosidosis. The therapy uses a harmless virus to carry a working copy of the GLB1 gene, which is missing or faulty in these patien…

This early-phase trial is testing whether combining three drugs—tazemetostat, zanubrutinib, and an anti-CD20 antibody (rituximab or obinutuzumab)—is safe and effective for people with certain types of lymphoma that have come back or not responded to treatment. The study involves …

This early study tests a new drug called ABBV-101 in people with several types of non-Hodgkin lymphoma that have come back or not responded to other treatments. The drug is a pill that targets a protein (BTK) involved in cancer growth. The main goals are to find a safe dose and s…

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 tests whether weekly infusions of Alpha-1 MP (a protein replacement) can slow lung damage in 345 people with emphysema caused by Alpha-1 antitrypsin deficiency. Participants receive one of two doses or a placebo for three years, with lung CT scans tracking changes. The…

This phase 3 study tests a drug called PTC923 (sepiapterin) in 200 people with phenylketonuria (PKU), a genetic condition that requires a strict low-protein diet. The main goal is to see if the drug is safe over the long term and whether it allows people to eat more protein witho…

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 phase 3 study tests whether venglustat, an experimental oral drug, can slow heart thickening better than current standard treatments in 104 adults with Fabry disease. Participants are randomly assigned to venglustat or usual care (enzyme replacement or migalastat) for 18 mon…

This study looks at the long-term safety of a weekly intravenous treatment for people with emphysema caused by alpha-1 antitrypsin deficiency. About 290 adults who completed a prior study will receive the drug for 2 more years. The main goal is to monitor side effects, not to cur…

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 trial tests a new drug called Cadonilimab in 28 people with advanced colorectal cancer that has not responded to standard immunotherapy. The drug is a bispecific antibody that targets two immune checkpoints (PD-1 and CTLA-4) to potentially reactivate the immune system agains…

This phase I trial tests a new approach for patients with high-risk or recurrent non-Hodgkin lymphoma. After a stem cell transplant, participants receive a single infusion of their own genetically modified T-cells designed to recognize and attack cancer cells. The study aims to f…

This phase 3 trial tests an experimental drug called ALXN1850 in 124 adolescents and adults with hypophosphatasia, a rare genetic bone disease. Participants receive either the drug or a placebo by injection under the skin. The main goal is to see if the drug improves walking dist…

This early-phase study tests a new drug called BGB-11417 (sonrotoclax) in people with B-cell blood cancers that have come back or not responded to treatment. The goal is to find the safest dose and see how well it works alone or combined with other drugs. About 437 adults will ta…

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 early-stage trial tests whether a single infusion of donated mesenchymal stem cells is safe for children with cerebral adrenoleukodystrophy (cALD), a rare and life-threatening brain disease. The stem cells are given as a temporary bridge to buy time before a more definitive …

This study tests a donor stem cell transplant for people with severe immune system problems, like SCID and Wiskott-Aldrich syndrome. The goal is to help the body make healthy blood cells and fight infections. Participants receive donated stem cells to rebuild their immune system.…

This study tests a stem cell transplant method for people with acquired or inherited bone marrow failure. Donor stem cells are specially processed to remove certain immune cells, which may lower the risk of graft rejection and graft-versus-host disease. The goal is to see if this…

This long-term study tests the safety and effectiveness of bitopertin (DISC-1459) in people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain from sunlight exposure. About 230 participants who previously took bitoper…

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 clinical trial is testing whether dimethyl fumarate, a drug already used for multiple sclerosis, can improve balance and walking in adults with adrenomyeloneuropathy (AMN), a rare nerve disease. Forty participants will take either the drug or a placebo daily for 36 months, w…

This study looks at how the drug crinecerfont works in babies under 2 years old with congenital adrenal hyperplasia (CAH), a condition where the body can't make certain hormones properly. The goal is to measure drug levels in the blood and check for side effects. Only 7 infants a…

This study tests a one-time gene therapy called UX701 for adults with Wilson disease, a genetic condition that causes copper buildup. The goal is to see if it is safe and can help the body control copper levels, possibly allowing patients to take fewer or no daily medications. Ab…

This Phase 3 trial tests whether a daily injection of metreleptin (a lab-made leptin hormone) can improve blood sugar and fat levels in people with partial lipodystrophy, a rare condition where fat is distributed abnormally. About 69 participants will receive either metreleptin o…

This Phase 3 trial tests whether bitopertin, a daily pill, can help people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) spend more time in sunlight without pain. About 183 participants aged 12 and older will take bitopertin or a placebo for 6 months. …

This phase 2 study tests acalabrutinib, a targeted drug, in 107 people with Waldenström macroglobulinemia, a rare blood cancer. The goal is to see how well the drug shrinks tumors and controls the disease. Participants either had prior treatment or are new to therapy and cannot t…

This study was designed to test two immunotherapy drugs, nivolumab and ipilimumab, in children and young adults with cancers that returned or didn't respond to treatment and had many genetic mutations. The goal was to see if the drug combination was safe and could shrink tumors. …

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 phase 2 trial tests an oral drug called venglustat, given alongside the standard enzyme therapy Cerezyme, in adults with Gaucher disease type 3 (a rare genetic disorder affecting the body and brain). The study has four parts: first, it checks spinal fluid biomarkers to disti…

This study tests a combination of two drugs, avelumab and M6620, in people with advanced solid tumors that have spread or can't be removed by surgery. The tumors must have a specific DNA repair defect. The goal is to find the safest dose and see if the combination can help contro…

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 new drug called encaleret against usual treatments for people with a rare genetic condition called autosomal dominant hypocalcemia type 1 (ADH1), which causes low blood calcium and high urine calcium. About 67 participants will receive either encaleret or stand…

This early-stage trial tests a one-time gene therapy called CLN-301 in 7 children aged 3 to 10 with CLN3 Batten disease, a rare genetic disorder that causes progressive loss of vision, movement, and thinking skills. The therapy delivers a working copy of the CLN3 gene directly in…

This study tests a daily oral drug called nemtabrutinib (ARQ 531) in 190 people with blood cancers like lymphoma or leukemia that have come back or not responded to prior treatment. The goal is to find a safe dose and see if the drug can shrink tumors. It is an early-phase trial,…

This study tests whether using a blood marker called transferrin saturation to guide bloodletting (removing blood) improves quality of life in people with HFE haemochromatosis, a genetic condition causing iron buildup. 239 adults already on maintenance bloodletting will be random…

This study tests a drug called ACER-001 (sodium phenylbutyrate) in a single patient with combined D,L-2-hydroxyglutaric aciduria, a rare genetic disorder that causes brain damage and seizures. The goal is to see if the drug is safe and can lower harmful acid levels in the body. R…

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 looks at whether the MCV test (which measures red blood cell size) is as good as or better than the standard ferritin test for guiding phlebotomy (blood removal) therapy in people with hereditary hemochromatosis, a condition causing too much iron absorption. About 622 …

This study tests whether the drug tafamidis can safely stop the progression of ATTR amyloidosis in people who have already received a heart transplant. About 25 stable patients will take tafamidis daily for 12 months. Researchers will measure changes in blood protein levels, nerv…

This study tests whether adding a new drug called AZD0780 to the common statin rosuvastatin can lower 'bad' LDL cholesterol more than rosuvastatin alone. About 76 adults with high cholesterol will take either AZD0780 or a placebo pill, plus rosuvastatin, for 12 weeks. Neither par…

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 two drugs—abiraterone and olaparib—alone or together in men with advanced prostate cancer that has spread and no longer responds to hormone therapy. Only men whose tumors have certain DNA repair defects (like BRCA or ATM mutations) are included. The goal is to se…

This phase 2 study tests a personalized immune cell therapy called tumor-infiltrating lymphocytes (TIL) in 20 people with advanced solid cancers (like stomach, colon, or pancreatic cancer) that have not responded to standard treatments. Patients first receive chemotherapy to prep…

This Phase 3 trial tests a gene therapy called DTX301 for people with late-onset OTC deficiency, a rare genetic disorder that causes dangerous ammonia buildup. The study involves 37 participants and compares the gene therapy to a placebo. The goal is to see if the treatment can h…

This study tests a one-time gene therapy infusion (FBX-101) given after a standard stem cell transplant in 6 children with infantile Krabbe disease, a severe genetic disorder affecting the nervous system. The therapy uses a harmless virus to deliver a working copy of the GALC gen…

This study tests a stem cell transplant from a matched unrelated donor for people with advanced blood cancers or blood disorders. Patients get chemotherapy and radiation before the transplant to prepare their body, then take drugs to prevent the donor cells from attacking their o…

This study follows 11 adults with late-onset OTC deficiency who received a single dose of gene therapy (DTX301) in an earlier trial. Researchers are checking long-term safety and how well the body makes urea and controls ammonia levels. The goal is to see if the treatment remains…

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 tests whether a two-drug combination can help the immune system attack ovarian cancer that has returned after standard treatments. The drugs are E7777, which removes certain immune cells that block the body's defenses, and pembrolizumab, which reactivates cancer-fighti…

This study looks at whether taking a yerba mate extract can help improve health markers in overweight adults. Eighty people aged 40-65 will take either the extract or a placebo for 90 days. Researchers will measure changes in weight, blood sugar, cholesterol, and inflammation to …

This study tests a new drug called ALXN1850 in children aged 2 to 12 with hypophosphatasia, a rare genetic condition that weakens bones. The trial compares the drug to a placebo to see if it improves bone health and movement. About 30 children who have not received prior treatmen…

This pilot study tests a fludarabine-based drug regimen to prepare children with bone marrow failure syndromes for a bone marrow transplant from a matched sibling donor. The goal is to help the donor cells successfully take root while reducing serious side effects. The study incl…

This study tests two oral drugs, pirtobrutinib and venetoclax, in 46 people with Waldenström macroglobulinemia who have already had at least one prior treatment. The goal is to see if the combination can shrink the cancer and improve response rates. Researchers are also tracking …

This study tests the long-term safety and effectiveness of pegtibatinase in people with classical homocystinuria (HCU), a rare genetic disorder that prevents the body from breaking down certain amino acids. About 100 participants who completed earlier studies will receive the dru…

This study tests a daily pill called resmetirom in people with non-alcoholic fatty liver disease (NAFLD). The goal is to see if it safely reduces liver fat and cholesterol over 52 weeks. About 810 adults who completed earlier related studies are taking part. This is a long-term t…

This study looks at whether 10 weeks of regular exercise (on land or in water) can lower blood sugar and blood pressure in people aged 60 and older who have several health conditions like diabetes, high blood pressure, and arthritis. 63 volunteers will be split into two exercise …

This trial tests a 12-month lifestyle medicine program for 1000 adults with obesity and related conditions like diabetes or high blood pressure. Participants get regular visits with a dietitian and a doctor, plus optional behavioral health support. The goal is to see if the progr…

This study follows about 50 people with a rare immune disorder called ADA-SCID who have received a gene therapy treatment called Strimvelis. The goal is to track their health for many years to see if the treatment remains safe and effective. Researchers will monitor for side effe…

This study looks at whether switching to a plant-based diet can improve heart health and reduce inflammation in people who have had a kidney transplant. Twenty-five participants who are at least three months post-transplant will follow a plant-based diet for 16 weeks after a two-…

This study tests a drug called loncastuximab tesirine in 21 people with Waldenström macroglobulinemia, a rare blood cancer, whose disease has not responded to at least two prior treatments. The goal is to see if the drug can shrink tumors and lower abnormal protein levels. Partic…

This study looks at different methods to help patients with high cholesterol and heart disease get the right medicines to lower their cholesterol. About 300 adults at high risk will take part. The goal is to see which approach helps more people reach their target LDL cholesterol …

This study tests whether whole-body electromyostimulation (WB-EMS), a technology that stimulates muscles with mild electrical pulses, can lower resting blood pressure and improve other heart risk factors in overweight adults aged 50+ with mild hypertension. Over 12 weeks, 28 part…

This early-stage trial is testing the safety and potential benefit of pembrolizumab, an immunotherapy drug, in 71 children whose brain tumors (like DIPG, high-grade gliomas, or medulloblastoma) have come back or not responded to standard treatments. The drug works by helping the …

This study tests a drug called crinecerfont in adults with classic congenital adrenal hyperplasia (CAH), a genetic condition that requires lifelong steroid treatment. The goal is to see if crinecerfont can safely reduce the daily steroid dose needed while keeping hormone levels u…

This Phase 2 trial tests whether adding carfilzomib to ibrutinib improves outcomes for people with Waldenström's macroglobulinemia, a rare blood cancer. About 99 participants will receive either the combination or ibrutinib alone. The goal is to see if the combo leads to higher r…

This study tests a combination of two targeted drugs, ibrutinib and venetoclax, in 45 adults with a rare blood cancer called Waldenström macroglobulinemia who have a specific gene mutation (MYD88). The goal is to see if the combo can shrink the cancer significantly. Participants …

This study looks at whether a special heart-friendly diet, with or without added plant sterols and krill oil, can improve cholesterol levels in people with familial hypercholesterolemia (a genetic condition causing very high cholesterol). About 300 participants will follow the di…

This study tests an experimental oral drug called AZD0780 in 432 adults with high LDL cholesterol (dyslipidaemia). Participants take the drug or a placebo daily for up to 52 weeks to see if it safely lowers cholesterol. The goal is to manage the condition, not cure it, as ongoing…

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 study compares a new medicine, ALXN1850, to the current standard treatment (asfotase alfa) in 43 children aged 2 to 12 with hypophosphatasia, a rare genetic condition that weakens bones. All children have been on the standard treatment for at least 6 months before joining. T…

This study tests an experimental drug called AZD0780 in 473 adults with a genetic condition that causes very high cholesterol (heterozygous familial hypercholesterolemia). The drug aims to lower LDL (bad) cholesterol more than a placebo over 12 weeks, with treatment lasting up to…

This study looks at whether eating almonds every day for 12 weeks can improve gut health and lower inflammation in people with metabolic syndrome. About 80 adults aged 35-60 with conditions like high blood pressure, high blood sugar, or unhealthy cholesterol levels will participa…

This study tests a 6-month home-based program called FIT Families, designed to help African American teens with obesity and their caregivers lose weight. The program includes coaching sessions, family counseling, and small prizes for completing tasks. Researchers will measure cha…

This study tests a device that delivers specific light and sound patterns to the brain, aiming to slow the progression of mild-to-moderate Alzheimer's disease. About 670 participants will use the device at home for an hour daily over a year, with half receiving a sham (inactive) …

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 early-stage trial tests a single oral dose of BMN 349 in 6 adults with a genetic form of alpha-1 antitrypsin deficiency (PiZZ or PiMZ/MASH). The main goal is to check safety and how the drug moves through the body. Participants receive either BMN 349 or a placebo and are clo…

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 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 3 trial tests VSA003, an RNAi drug that targets a protein called ANGPTL3, in 46 Chinese adolescents and adults with homozygous familial hypercholesterolemia (HoFH), a genetic condition causing extremely high cholesterol. Participants receive either VSA003 or a placebo …

This study tests a milder chemotherapy and immune-suppressing regimen before a stem cell transplant for children and young adults with non-malignant blood disorders like sickle cell disease or immune deficiencies. The goal is to safely achieve donor cell engraftment with fewer si…

This early-stage study tests a new drug called AZD1705 in adults with high cholesterol (dyslipidemia). The main goal is to check if the drug is safe and how the body processes it. About 98 participants will receive either the drug or a placebo. This research helps determine if th…

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 early-stage trial is testing an experimental oral drug called APG-2575 in people with relapsed or refractory chronic lymphocytic leukemia (CLL) and non-Hodgkin lymphoma (NHL). The main goal is to check the drug's safety and find the best dose. About 74 participants will take…

This study follows 60 adults with Fabry disease who are receiving pegunigalsidase-alfa, a newer enzyme replacement therapy. Researchers want to see how well it works in everyday medical practice, especially for kidney function. Participants will be treated for 2 years at speciali…

This early-stage study tests an oral drug called MK-1026 in 12 Chinese adults with blood cancers (like lymphoma or leukemia) that returned or didn't respond to prior therapies. The main goals are to check the drug's safety and how the body processes it. Researchers will also look…

This study tests whether injecting a replacement enzyme directly into the eye can slow or stop vision loss in children with CLN2 Batten disease, a rare genetic disorder that causes blindness and brain damage. Five children aged 2 to 6 who already receive brain infusions of the en…

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 phase 2 trial tests whether theophylline, a drug used for asthma, can help people with pseudohypoparathyroidism lose weight and improve blood sugar control. The study includes 29 obese participants aged 13 and older. Researchers will measure changes in body mass index and gl…

This study tests whether a program combining exercise, diet advice, and behavioral support can improve fitness and health in adults aged 60-75 who are at high risk for heart disease. Participants in the program receive supervised high-intensity exercise and counseling, while all …

This study tests whether theophylline, a drug used for asthma, can help children and young adults with pseudohypoparathyroidism—a rare genetic condition causing early obesity, hormone problems, and short stature. Researchers will check for weight loss, better blood sugar control,…

This study tests whether a 6-week exercise program, done twice a week, can improve physical and mental health in 100 adults with severe mental illness. Participants are randomly assigned to either usual care or usual care plus the exercise program. The goal is to see if exercise …

This phase 2 trial tests theophylline, a drug used for asthma, in 34 children aged 2 to 12 with pseudohypoparathyroidism, a genetic condition causing obesity, short stature, and hormone resistance. The study aims to see if theophylline can help with weight loss, slow bone growth …

This study tests a special needle (SmartFlow cannula) designed to safely deliver a gene therapy drug (eladocagene exuparvovec) into the brains of 13 children with AADC deficiency, a rare genetic disorder that affects movement and development. The main goals are to check if the pr…

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 Phase 3 trial is testing an oral drug called MK-0616 (enlicitide decanoate) in about 14,550 people at high risk for heart problems. The drug aims to lower cholesterol and reduce the chance of major events like heart attacks, strokes, and emergency artery procedures. Particip…

This early-stage study tests a new drug called CMP-CPS-001 in healthy adults and women who carry a gene for OTC deficiency, a rare liver condition that can cause dangerous ammonia buildup. The main goal is to check the drug's safety and how the body processes it. Participants rec…

This trial tests a gene therapy called VGN-R09b for children with severe AADC deficiency, a rare genetic disorder that affects movement and brain function. The therapy is injected directly into the brain. The study aims to see if it is safe and helps children achieve motor milest…

This study tests whether a Mediterranean diet combined with intermittent fasting can reduce liver scarring (fibrosis) better than the weight-loss medication naltrexone/bupropion. About 70 adults with overweight or obesity and heart or metabolic risks (like type 2 diabetes or high…

This early-stage trial is testing an experimental therapy called NKX019 for people with certain blood cancers (like lymphoma and leukemia) that have come back or not responded to standard treatments. NKX019 uses donor immune cells (natural killer cells) that are engineered to fin…

This study planned to test a procedure called bariatric embolization for people with morbid obesity who cannot have standard weight-loss surgery. The procedure involves injecting tiny particles into blood vessels near the stomach to reduce blood flow, which may lower hunger hormo…

This early-phase trial tests an experimental drug called WVE-006 in 24 people with a severe form of alpha-1 antitrypsin deficiency (Pi*ZZ). The drug is designed to edit RNA to help the body produce a working version of the protective protein. The main goal is to check safety, but…

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 a drug called SHP611, given as a spinal injection, in 36 children with late infantile metachromatic leukodystrophy (MLD), a rare and severe brain disease. The main goal is to see if the treatment helps children keep their ability to walk and move for as long as p…

This study follows 14 people with Fanconi Anemia who previously received RP-L102 gene therapy. Researchers will monitor their health for years to see if the treatment safely improves blood counts and reduces the need for a bone marrow transplant. The goal is to understand long-te…

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 stem cell transplant method for people with blood cancers like leukemia or lymphoma. The approach uses chemotherapy, total body radiation, and a drug called cyclophosphamide after the transplant to prevent graft-versus-host disease, where donor cells attack the…

This early-phase trial tests a two-part treatment for people with relapsed or chemotherapy-resistant B-cell leukemia or lymphoma. First, patients receive a chemotherapy drug (cyclophosphamide) to help prepare the body. Then, they get an infusion of their own T cells that have bee…

This study follows 9 people with Fanconi Anemia who already received a gene therapy that adds a working FANCA gene to their blood stem cells. Researchers will check their health and blood counts for 15 years to see if the treatment remains safe and keeps working. No new treatment…

This study tests a new drug called SAR447537 (INBRX-101) in 185 adults with alpha-1 antitrypsin deficiency (AATD) emphysema, a genetic condition that causes lung damage. The drug is a lab-made protein designed to replace the missing enzyme and slow disease progression. The main g…

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 follows 116 people who received an experimental gene-editing therapy for heart disease or high cholesterol. Researchers will monitor them for 15 years to track any side effects and how well the treatment controls cholesterol levels. The goal is to understand the long-t…

This study tests whether maslinic acid, a natural compound found in olive skins, can improve metabolic health by activating brown fat—a type of fat that burns calories. Fifty adults with pre-metabolic syndrome or mild obesity will take maslinic acid or a placebo for 12 weeks. Res…

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 program provides early access to an experimental drug called CNM-Au8 for people with amyotrophic lateral sclerosis (ALS), a progressive nerve disease. Participants must be 18 or older and have a confirmed ALS diagnosis. The goal is to offer treatment to those who cannot join…

This study tests whether triheptanoin, a special oil, can reduce major clinical events (like severe low blood sugar or heart problems) in children with long-chain fatty acid oxidation disorders (LC-FAOD), a rare condition where the body can't break down certain fats for energy. A…

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 three ways emergency responders help children breathe: a bag-mask, a throat tube, or a breathing tube. It includes 3,000 children under 18 with cardiac arrest, severe injury, or breathing failure. The goal is to see which method leads to more days alive and out o…

This study tests the safety of switching from the current drug metreleptin to a new experimental drug called mibavademab in people with generalized lipodystrophy, a rare condition where the body cannot properly store fat. Nine participants who have been stable on metreleptin will…

This study tests a rapid drug desensitization (RDD) protocol for adults with phenylketonuria (PKU) who have had allergic reactions to Palynziq. Over one day, patients receive gradually increasing doses to retrain their immune system. The goal is to see if they can safely restart …

This study tests the safety and how the body processes migalastat in 14 adults with Fabry disease who have severe kidney impairment or are on dialysis. Participants take migalastat capsules, and researchers measure drug levels in blood and dialysate. The goal is to ensure proper …

This study tests the long-term safety and effectiveness of pegcetacoplan in 100 people with two rare kidney diseases, C3 glomerulopathy and IC-MPGN. Participants previously completed a one-year trial and saw benefit from the drug. The goal is to see if pegcetacoplan can keep redu…

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 was designed to see if giving calcium right away to trauma patients who need large blood transfusions could help their blood clot better, reduce the need for more transfusions, and improve survival. The trial was withdrawn before enrolling any participants, so no resul…

This study follows 52 people who already received a Vivacit-E hip liner during total hip replacement. Researchers will track how long the implant lasts and any problems over 10 years. The goal is to confirm the liner is safe and helps reduce pain and improve movement for conditio…

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 early-phase trial is testing a single-dose gene therapy called LY3884961 in 7 infants with Type 2 Gaucher disease, a severe and rapidly fatal genetic disorder. The therapy is injected into the fluid around the brain and spinal cord to deliver a working copy of the faulty gen…

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 whether drinking 15 ml of apple cider vinegar twice a day for two weeks can improve blood sugar stability and cholesterol in adults with type 2 diabetes. Thirty-eight participants will compare the vinegar to plain water using a continuous glucose monitor. It's a …

This early-phase trial tests a new drug called HRO761, alone or combined with pembrolizumab or irinotecan, in people with advanced solid tumors that have high microsatellite instability (MSI-high) or mismatch repair deficiency (dMMR). The main goals are to check safety and find t…

This study looks at whether a 26-week behavioral weight loss program called 'Paso a Paso' is practical for Mexican and Central American adults with fatty liver disease and overweight. Researchers will track attendance, weight loss, liver stiffness, and diet changes in 50 particip…

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 early-stage trial tests a new three-drug combination (ibrutinib, rituximab, and bendamustine) in adults with certain types of non-Hodgkin lymphoma that have come back after prior treatment. The main goal is to find the safest dose of ibrutinib when given with the other two d…

This study tests an experimental drug called iopofosine I 131 in people with certain blood cancers (like Waldenstrom macroglobulinemia, multiple myeloma, and lymphomas) that have come back or not responded to standard treatments. The drug delivers radiation directly to cancer cel…

This study tests whether a nurse practitioner-led team can improve care for adults with two or more chronic conditions like heart failure, diabetes, or kidney disease. Participants are randomly assigned to either the nurse-led team or usual care. The team reviews medications to e…

This phase 2 trial tests whether combining two immunotherapy drugs, nivolumab and relatlimab, can shrink or control advanced solid tumors with a specific genetic feature (MSI-H) that have stopped responding to prior immunotherapy. About 38 adults with these hard-to-treat cancers …

This Phase 2 trial tests bortezomib (Velcade) and rituximab (Rituxan) as an initial treatment for Waldenstrom's macroglobulinemia, a rare blood cancer. The goal is to control the disease and collect stem cells for a possible future transplant. The study involves 46 participants a…

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 study tests a new gene therapy called LY3884961 in 32 people with moderate to severe Parkinson's disease who have a specific genetic change (GBA1 mutation). The treatment is given as a single injection into the fluid around the brain and spinal cord. The main goal is to chec…

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 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 study is for people with PMM2-CDG, a rare genetic disorder, who have already taken the experimental drug GLM101 in a previous trial. The goal is to see if GLM101 is safe and effective over a longer period. Participants will receive weekly infusions of GLM101 at the same dose…

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 program gives children under 6 with Menkes disease access to copper histidinate injections. Menkes disease is a rare genetic disorder where the body cannot properly use copper, leading to severe developmental problems. The treatment aims to supply the missing copper to help …

This early-stage study tests an experimental pill called LOXO-338 in 316 adults with advanced blood cancers like leukemia, lymphoma, or multiple myeloma. Participants have already tried standard treatments. The main goals are to find the safest dose and see if the drug shrinks tu…

This study tests a 6-month digital care program for adults aged 50+ with type 2 diabetes and at least one other chronic condition like high blood pressure or kidney disease. The program combines online education, phone support, a mobile health app, home visits, and personalized c…

This phase 2 study tests pembrolizumab (Keytruda) in 40 men with metastatic castration-resistant prostate cancer that has specific genetic flaws (mismatch repair deficiency or CDK12 inactivation). The goal is to see if the drug can shrink tumors or slow the cancer. Researchers wi…

This study tests a drug called GLM101 for people with PMM2-CDG, a rare inherited disease that affects movement and coordination. About 50 children and adults will receive weekly infusions of either GLM101 or a placebo for 24 weeks, followed by an open-label phase where everyone g…

This study tests whether adding the drug abatacept to standard care can prevent graft-versus-host disease (GVHD) in children receiving stem cell transplants from unrelated donors. GVHD occurs when donor cells attack the patient's body, causing serious illness. The trial will enro…

This Phase 2 trial tests whether a sleep-deepening drug (lower-sodium oxybate) or a nerve-stimulating device (non-invasive vagus nerve stimulation), or both, can help clear amyloid-beta protein from the brain in people with cerebral amyloid angiopathy (CAA). Sixty participants wi…

This study is for people with a rare heart condition called ATTR amyloidosis with cardiomyopathy, where abnormal protein builds up in the heart. It tests the long-term safety and effectiveness of a drug called vutrisiran, given as an injection every three months. About 700 adults…

This study tracks 73 adults with homozygous familial hypercholesterolemia (HoFH), a rare genetic disorder causing extremely high cholesterol and early heart disease. Researchers will compare major cardiovascular events (like heart attacks and strokes) during the first three years…

This Phase 3 trial tested a stem cell transplant using blood stem cells from a half-matched (haploidentical) donor in 21 people with various blood cancers. The goal was to see if this approach could help patients who don't have a fully matched donor. Participants received chemoth…

This study compares two weight-loss surgeries for people with severe obesity (BMI over 45). One is the standard duodenal switch, and the other is a simpler version called SADI. Researchers track weight loss, health improvements like diabetes and high blood pressure, and complicat…

This study tests a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This Phase 2 trial tests a genetically modified herpes virus (RP1) alone or with the immunotherapy drug nivolumab in people with advanced solid tumors, including melanoma, non-small cell lung cancer, and certain skin cancers. The study aims to see if the combination is safe and c…

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 study compares two weight loss surgeries for people with severe obesity: sleeve gastrectomy with transit bipartition (SG+TB) and Roux-en-Y gastric bypass (RYGB). About 320 participants will be followed for two years to see which surgery leads to greater weight loss and fewer…

This early-stage trial tests a gene therapy called AAV9.hMCOLN1co in one child with Mucolipidosis Type IV (MLIV), a rare genetic disorder. The therapy is given as a single injection into the spinal fluid. The main goal is to check safety, but researchers will also look for any si…

This study follows 4 people with methylmalonic acidemia who previously received hLB-001 gene therapy. Researchers are checking for long-term side effects. The goal is to see if the treatment remains safe over time.

This study follows about 847 adults with high cholesterol or mixed dyslipidemia who are starting inclisiran, a newer cholesterol-lowering drug. Researchers want to see how much LDL cholesterol drops after 10 months and how well patients stick with the treatment in real-world sett…

This early-phase trial tests a single intravenous dose of LY-M001 gene therapy in 9 children (ages 6 to 17) with type 1 Gaucher disease. The goal is to see if it is safe and can improve key symptoms like liver size and blood markers. Researchers will monitor participants for side…

This early-phase study tests an experimental oral drug (GSK4418959) in adults with advanced solid tumors that have specific genetic changes (dMMR or MSI-H). The drug works by blocking a protein (WRN) that these tumors need to survive. The study aims to see if the drug, alone or w…

This phase II trial tests whether adding the targeted drug acalabrutinib to standard chemotherapy (bendamustine and rituximab) improves outcomes for people with untreated Waldenstrom's macroglobulinemia, a rare blood cancer. About 63 participants will receive the three-drug combo…

This early-stage trial tests a single dose of VTX-801 gene therapy in 4 adults with Wilson's disease, a rare condition where copper builds up in the body. The goal is to see if the treatment is safe and can help control copper levels, possibly allowing patients to stop their usua…

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 a modified plan to prevent and treat cytomegalovirus (CMV) infection in people with blood cancers who have had a donor stem cell transplant. CMV is a common virus that can cause serious problems after transplant. The study involves 153 participants and looks at w…

This study aimed to see if the drug bitopertin is safe for people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) who also have early signs of liver disease. Researchers planned to check for side effects and measure changes in protoporphyrin levels in bl…

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 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 tests a new medicine called PRAX-562 in 77 children with rare genetic epilepsies (SCN2A or SCN8A). The goal is to see if it safely reduces motor seizures. The trial has two parts: a double-blind phase where some children get the drug and some get a placebo, followed by…

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 phase II trial is testing whether giving the immunotherapy drug pembrolizumab before standard chemotherapy and radiation can help prevent stomach cancer from coming back. It includes 40 people with operable stomach cancer that has either a specific DNA repair problem (mismat…

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 tests whether an electronic alert in the medical record can help doctors prescribe better cholesterol-lowering medications for heart disease patients with high LDL. About 400 patients from a single hospital will be randomly assigned to have their doctor receive the ale…

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 whether using focused ultrasound to temporarily open the blood-brain barrier can safely help standard antibody therapy reach the brain in people with mild Alzheimer's or mild cognitive impairment. About 15 participants will receive the combined treatment. The goa…

This study tests a combination of an experimental immune booster (N-803) with standard checkpoint inhibitors in people with advanced solid tumors (like lung, bladder, or skin cancer) whose disease progressed after prior immunotherapy. The goal is to see if the combo can shrink tu…

This study tests whether combining an AI smartphone app, intermittent fasting (16 hours of fasting daily), and resistance training can improve blood sugar control and physical fitness in people with type 2 diabetes. Sixty adults with diabetes will either follow this program or re…

This study tests an investigational drug called BW-00112 in 145 adults with mixed dyslipidemia, a condition where levels of certain blood fats are too high. Participants receive injections of the drug or a placebo over several months while continuing their usual statin medication…

This study tests a drug called vutrisiran in 655 adults with a rare heart condition caused by abnormal protein buildup (ATTR amyloidosis with cardiomyopathy). The drug is given as a shot every 3 months and aims to reduce deaths and heart-related hospital stays. The goal is to see…

This study was designed to test whether ADV7103, a combination of potassium citrate and potassium bicarbonate, could help people with cystinuria by making their urine less acidic. The goal was to see if it could raise urine pH to 7.0 or higher, which might reduce kidney stone for…

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 follows about 212 people in Italy with Waldenström's macroglobulinemia, a rare blood cancer, who are taking the drug zanubrutinib. Researchers are tracking how long patients stay on the drug, side effects, and overall treatment outcomes. The goal is to understand how w…

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 study tests whether a pharmacist-led program can help people reduce their risk of heart disease. Over 1,000 adults with conditions like diabetes, high blood pressure, or obesity are taking part. Pharmacists use a step-by-step guide to assess risk and support lifestyle change…

This phase 2 study tests the drug olaparib in 114 people with metastatic breast cancer whose tumors have mutations in certain DNA repair genes (like BRCA1, BRCA2, ATM, PALB2, and others). Olaparib is a PARP inhibitor that may kill cancer cells by blocking their ability to fix dam…

This phase 2 study tests a new drug called sonrotoclax, either alone or combined with zanubrutinib, in 114 people with Waldenström macroglobulinemia, a rare blood cancer. The goal is to see if the treatment can shrink tumors and control the disease. Participants include those who…

This early-stage study tests a one-time gene therapy injection into the spinal fluid of children aged 1-18 with CLN7 Batten disease, a rare and fatal genetic brain disorder. The main goal is to check safety, but researchers will also measure changes in movement, thinking, and vis…

This study tests whether a daily supplement containing inositol and alpha-lactalbumin can improve blood sugar, cholesterol, blood pressure, and heart health in people with metabolic syndrome who are at risk for cardiac fibrosis. Thirty participants will take the supplement for 18…

This study looks at whether eating 2 cups of frozen raspberries daily for 8 weeks can improve blood sugar, cholesterol, and gut health in overweight or obese adults with early signs of metabolic syndrome. Researchers want to see if the berries' natural compounds help by changing …

This study tests whether taking 50 grams of blueberry powder daily for 8 weeks can improve gut bacteria and metabolic health in overweight or obese adults. Researchers will measure changes in blood sugar, cholesterol, and gut microbes. The goal is to see if blueberries can help m…

This phase 2 trial tests a gene therapy called RP-L102 for children with Fanconi anemia subtype A, a rare genetic disorder that leads to bone marrow failure. Doctors take the child's own blood stem cells, fix the faulty gene in a lab, and infuse the corrected cells back. The goal…

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-phase trial tests a gene therapy called BBP-631 for classic congenital adrenal hyperplasia (CAH), a genetic condition that forces patients to take daily steroids. The therapy uses a harmless virus to deliver a working copy of the faulty gene. Only 8 adults are enrolled…

This study aimed to test an experimental drug called ARC-AAT in people with Alpha-1 Antitrypsin Deficiency (AATD), a genetic condition that can cause liver and lung damage. The drug was designed to reduce harmful protein buildup in the liver. However, the trial was withdrawn befo…

This study planned to test a combination of immunosuppressive drugs (methotrexate, rituximab, bortezomib, IVIg, and folic acid) in people with hypophosphatasia whose bodies had stopped responding to asfotase alfa due to antibodies. The goal was to see if suppressing the immune sy…

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 looks at whether a protein supplement called carnitine can reduce hardening of the arteries in teenagers at high risk for future heart disease. About 90 teens aged 11-21 with high triglycerides will take carnitine or a placebo. Researchers will measure artery stiffness…

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 whether a cookie made from Golden Rice and red betel leaf can improve cholesterol and triglyceride levels in adults with type 2 diabetes. Over 28 days, 102 participants will eat the cookies daily, and their blood fat levels will be measured before and after. The …

This study tests a chemotherapy-free combination of three drugs (bortezomib, rituximab, and ibrutinib) in 53 people with newly diagnosed Waldenström's macroglobulinemia, a rare blood cancer. The goal is to see if this approach can keep the disease from getting worse for at least …

This study tests whether combining acalabrutinib with rituximab is safe and effective for people with nerve damage (neuropathy) linked to two blood conditions: IgM MGUS or Waldenstrom macroglobulinemia. The main goal is to see if the treatment lowers a key protein (IgM) in the bl…

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 looks at the long-term safety and effects of a drug called eplontersen in people with a rare inherited nerve disease called hATTR-PN. About 151 participants who completed earlier studies will receive regular injections of eplontersen. The goal is to see if the drug rem…

This study tests whether giving extremely preterm babies less intravenous (IV) fat (lipids) can lower harmful bilirubin levels and protect their brain development. Bilirubin can build up in these tiny infants and cause hearing loss or long-term disabilities. Researchers will comp…

This study compares two high-dose statin/ezetimibe combinations (rosuvastatin/ezetimibe vs. atorvastatin/ezetimibe) in 200 adults who have received a drug-eluting stent for coronary artery disease. The goal is to see which combo better maintains LDL cholesterol below 55 mg/dL ove…

This early-phase trial tests a single infusion of a gene therapy called FBX-101 in 9 people with Krabbe disease who have already received a stem cell transplant. The therapy uses a harmless virus to deliver a working copy of the GALC gene, aiming to improve motor function and saf…

This study tests a single dose of AVASPA gene therapy given directly into the brain of children with Canavan disease, a rare and severe genetic disorder that damages white matter. The therapy aims to restore a missing enzyme to help the brain produce myelin and slow disease progr…

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 program provides early access to pegcetacoplan for people aged 12 and older with C3 glomerulopathy or primary IC-MPGN, rare kidney diseases that can lead to kidney failure. Participants must have active disease with significant protein in their urine. The goal is to offer a …

This study follows 75 people with Gaucher disease type 1 who previously received FLT201 gene therapy. Researchers will monitor them for 5 years to see if the treatment remains safe and if its effects last. The goal is to understand whether a single dose can provide long-term dise…

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 program provides evinacumab to children with homozygous familial hypercholesterolemia (HoFH) or severe high triglycerides when standard treatments don't work. The drug helps lower dangerous fat levels in the blood, but patients must keep taking it long-term to control their …

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 phase 3 trial tests venglustat, a daily oral drug, against the standard IV treatment Cerezyme in 43 people with Gaucher disease type 3. Participants must have been on enzyme replacement therapy for at least 3 years. The goal is to see if venglustat can stabilize or improve n…

This study follows 7 people who previously received a gene therapy called AXO-AAV-GM2 for Tay-Sachs or Sandhoff disease — rare, fatal genetic disorders that destroy nerve cells. Researchers will track them for up to 5 years to see if the treatment remains safe and whether it help…

This study checks the long-term safety of a drug called fazirsiran in people with liver disease caused by alpha-1 antitrypsin deficiency. About 31 adults who were in earlier studies can keep getting the drug every 3 months. The goal is to see if fazirsiran is safe over time and i…

This study looks at whether a statin drug (atorvastatin) and swapping some saturated fats for healthier ones can safely lower cholesterol in adults with epilepsy who have been on a modified Atkins diet for at least a year. The diet helps control seizures but can raise cholesterol…

This early-stage trial tests a gene therapy called ATA-100 for people with LGMDR9, a rare genetic muscle disease that causes progressive weakness. Six adults receive a single intravenous infusion of the therapy, which delivers a working copy of the FKRP gene. The main goal is to …

This study tests whether eating 1.5 cups of fresh mango daily for 12 weeks can improve blood sugar, cholesterol, and inflammation in people with prediabetes. Thirty-one participants will eat mango for 12 weeks, then take a break, and then avoid mango for another 12 weeks. Researc…

This study looks at whether a very-low-calorie ketogenic diet (VLCKD) helps people with severe obesity and metabolic syndrome lose more weight and improve heart health over three years compared to a standard Mediterranean diet. About 100 adults aged 55-75 will be randomly assigne…

This study follows 10 people with CLN6 Batten disease who received a single dose of gene therapy (AT-GTX-501) in an earlier trial. Researchers are checking long-term safety and how the disease progresses over time. No new treatment is given in this follow-up.

This study provides an experimental stem cell treatment (HB-adMSCs) to an 83-year-old man with Primary Lateral Sclerosis, a rare nerve disease that causes progressive muscle weakness. The patient's own banked stem cells are used, aiming to slow the disease. This is a single-patie…

This early-phase trial is testing whether combining two drugs—nivolumab (a monoclonal antibody) and lenalidomide (a chemotherapy-like drug)—can safely and effectively treat people with non-Hodgkin or Hodgkin lymphoma that has returned or is not responding to treatment. The study …

This study tests adding a drug called selinexor to the standard chemotherapy RCHOP for people with B-cell non-Hodgkin lymphoma. The goal is to find the safest dose and see if the combination works better than standard treatment alone. About 43 adults with advanced or returning ly…

This study tests a drug called BBP-418 (Ribitol) in 81 people aged 12 to 60 with limb girdle muscular dystrophy type 2I (LGMD2I), a genetic condition that causes progressive muscle weakness. Participants receive either the drug or a placebo for 36 months to see if it slows the di…

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 early-phase study is testing a single dose of a new drug called YOLT-202 in 18 adults with Alpha-1 antitrypsin deficiency (AATD), a genetic condition that can damage the lungs and liver. The main goal is to see if the drug is safe and to find the best dose. Participants will…

This phase 2 trial tests whether metyrapone, a drug that lowers cortisol production, is safe and effective for people with mild autonomous cortisol secretion (MACS). About 30 participants will take the drug for a period, and researchers will track side effects and cortisol levels…

This study tests a one-time gene therapy called SAR444836 for adults with phenylketonuria (PKU), a genetic disorder that makes it hard to break down an amino acid called phenylalanine. The therapy uses a harmless virus to deliver a working copy of the missing gene. Researchers wa…

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 tests an injectable drug called pegvaliase in 55 teenagers (ages 12-17) with phenylketonuria (PKU) who have high blood Phe levels despite diet management. Half get the drug, half stick to diet only. The goal is to see if pegvaliase safely lowers Phe levels and reduces …

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 tests whether special lights and cameras can help find early signs of mouth cancer in people at high risk. About 338 participants with precancerous spots or conditions like Fanconi anemia will have their mouths examined with fluorescence imaging, which makes abnormal c…

This study looks at whether a special brain scan called diffusion tensor imaging (DTI) can help doctors find Krabbe disease in newborns and decide who needs urgent treatment. About 100 babies with a positive newborn screen or family history of Krabbe disease will be scanned and f…

This study uses a machine-learning tool to scan electronic health records and flag patients likely to have familial hypercholesterolemia (FH), a genetic condition causing very high cholesterol. Researchers then test a simple referral system that automatically schedules a visit wi…

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 is testing a way to find cardiac amyloidosis—a rare but serious heart condition—earlier in people aged 65 and older. Researchers in Turkey will screen 800 patients at family medicine clinics using simple blood tests and medical history. The goal is to see if this appro…

This study tests a new DNA-reading technology called ultra-long read sequencing to find hidden genetic changes that standard tests miss. Researchers will analyze blood samples from 15 patients with known or suspected genetic variants in difficult-to-read DNA regions. The goal is …

This study tests whether portable ultrasound and blood glucose monitors can help doctors catch chronic conditions like diabetes, heart disease, and kidney disease earlier than usual. About 200 adults will use these devices or receive standard care for 6 months. The goal is to see…

This study aimed to test a computer algorithm that uses insurance claims data to identify people with ATTR amyloidosis, a rare disease that affects the heart and nerves. Researchers planned to check how well the algorithm worked by reviewing medical records. However, the study wa…

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 trial investigates whether a daily effervescent supplement containing calcium, magnesium, and citrate can prevent bone loss, magnesium deficiency, and kidney damage in adults who take proton pump inhibitors (PPIs) long-term for conditions like heartburn or GERD. Participants…

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 study is testing a digital health platform called STELA that creates personalized lifestyle plans to reduce risk factors for heart disease, like obesity, high cholesterol, and insulin resistance. About 100 adults without existing heart disease will use the platform for a yea…

This study tests whether coaching for Latino mothers on how to feed and put their babies to sleep can prevent obesity in the first two years of life. About 256 mothers and their healthy full-term infants will receive either group coaching or text-based support. The goal is to hel…

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 looks at whether eating a diet high in magnesium can help prevent low blood magnesium levels in women with ovarian cancer who are receiving carboplatin chemotherapy. Low magnesium is a common side effect of this treatment. The study enrolled 26 participants and will me…

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 large, phase 4 trial is testing whether berberine, a natural compound, can prevent heart disease and diabetes in over 2,000 high-risk adults in China. Participants take berberine or a placebo twice daily, plus receive lifestyle advice. The study tracks blood sugar and heart …

This study tests whether special slip-resistant shoes can help dairy workers avoid slipping on wet, slippery floors. About 22 full-time employees at a Danish dairy will wear different shoes and rate how slippery they feel each day. The goal is to find footwear that reduces fall r…

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 whether pramipexole, a drug used for restless leg syndrome, can ease leg symptoms in women with X-linked adrenoleukodystrophy (ALD). About 24 women will take the drug or a placebo for two months. The goal is to see if it improves sleep, walking, and quality of…

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 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 a culturally tailored counseling and support program for Chinese and Korean American caregivers of relatives with dementia. The program includes family counseling sessions and online peer support groups. Researchers will measure whether it reduces stress, depress…

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 is testing whether a 12-week physiotherapy and exercise program can improve physical fitness and quality of life in adults with Fabry disease. Fifteen participants will do regular exercise sessions using body weight, resistance bands, and increased daily activity. The …

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 tests whether venglustat can reduce nerve pain in the arms and legs, and belly pain, in people with Fabry disease. Participants are 16 or older and have not had Fabry treatment for at least 6 months. The trial lasts 12 months, with visits every 3 months, and compares v…

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 aimed to see if making physical activity into a game could help older hospital patients move more. Participants would have received daily text messages, set step goals, earned points, and worn a Fitbit to track their steps. The study was withdrawn before any patients w…

This study tests whether a home-based walking program can improve blood sugar, cholesterol, and body measurements in people living with HIV who also have metabolic syndrome. Fifty participants will gradually increase their walking over six months. The main goal is to see if the p…

This study tests whether a 48-week exercise program can improve physical function and reduce disability in HIV-positive adults over 50 in Côte d'Ivoire. 180 participants will be split into three groups: supervised group exercise, home-based exercise with phone support, or health …

This study looks at a rare liver disease called PFIC, which causes severe itching and liver damage. Researchers compare patients who took the drug odevixibat to those who did not, using data from past studies and a patient registry. The goal is to see if odevixibat helps avoid li…

This study looks at whether teenagers and young adults with Polycystic Ovary Syndrome (PCOS) have more fat in their liver than those without PCOS. Researchers will use advanced imaging and tests to measure liver fat, insulin resistance, and cholesterol problems in 80 participants…

This study collects and analyzes blood, DNA, and tissue samples from 315 adults with pulmonary fibrosis, their relatives, and healthy volunteers. The goal is to learn more about the disease's causes, not to test a new treatment. Researchers hope the findings will guide future the…

This study aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Researchers will evaluate up to 1,000 participants, including patients, carriers, and healthy controls, to bette…

This study follows 35 children with CLN2 disease (a rare, severe brain disorder) who are taking cerliponase alfa (Brineura). Researchers will monitor for side effects and serious reactions over time. The goal is to better understand the long-term safety of this enzyme replacement…

This study tests whether offering online educational videos and mailed saliva genetic testing kits helps more first-degree relatives of people with BRCA mutations get tested, compared to standard care with a family letter. About 820 participants will be enrolled across several me…

This study examines health data from about 800,000 Korean adults to see how often conditions like obesity, type 2 diabetes, heart disease, chronic kidney disease, and fatty liver occur together. Researchers will analyze national survey and insurance records from 2013 to 2023. No …

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 early-stage trial tests a new drug called AJU-C716 against a reference drug (C716R) in 41 healthy adults aged 19 to 55. The goal is to see how safe the drug is and how the body processes it. This study does not test if the drug works for high cholesterol—it only looks at saf…

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 long-term study looks at people and families with a higher chance of developing blood or lymph node cancers like leukemia or lymphoma. Researchers collect medical histories, genetic samples, and sometimes perform exams to find inherited genes or environmental triggers. The g…

This study tracks 585 patients with familial or regular high cholesterol who are already prescribed Leqvio. Researchers will monitor side effects and cholesterol levels over time to see how safe and effective the drug is in everyday use. No new treatment is given—it's purely obse…

This 24-month observational study follows 100 people aged 12–50 with Limb Girdle Muscular Dystrophy type R1 (LGMD R1). Researchers will test whether a motor function scale called NSAD and muscle fat measurements from MRI can reliably track disease progression. The goal is to vali…

This study is creating a collection of blood samples and health information from 250 adults with very high or very low cholesterol or related lipid problems. Researchers will analyze these samples to learn more about the genetic and biological causes of these extreme lipid disord…

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 followed children and young adults with genetic liver diseases that cause bile buildup. The goal was to track how these diseases progress over time, including the need for liver transplants or other complications. No treatments were tested; the aim was simply to learn …

This observational study follows about 198 patients in Spain who are already taking inclisiran (Leqvio) for high cholesterol linked to heart disease or a genetic condition. Researchers will check if patients reach their LDL cholesterol goals after 6 and 12 months. The goal is to …

This study follows 600 people with Albright hereditary osteodystrophy, a rare genetic condition affecting bones and hormones. Researchers are looking at how growth hormone treatment affects height and weight in those with a related hormone problem, and also studying thinking and …

Citrin deficiency is a rare, underdiagnosed condition that affects the liver and metabolism. There is no cure, and patients manage symptoms with lifelong diet changes. This study analyzes blood samples from 100 patients to find biomarkers that could help track disease severity an…

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 observational study is looking at a protein called neurofilament light chain (NfL) in the blood of people who carry a gene variant for hereditary ATTR amyloidosis, both those without symptoms and those with nerve damage. Researchers want to see if NfL levels can help detect …

This study looks at whether adults aged 70 and older with multiple chronic conditions (but no heart disease) can safely stop taking statins. Researchers are comparing those who continue statins to those who stop, tracking deaths and major heart events over 2-4 years. The goal is …

This study follows 78 adults in Taiwan who have Fabry disease and carry a specific genetic mutation called GLA IVS4. Researchers are looking at how the disease affects the heart and other organs over time, both in people who have never been treated and those who have received aga…

This study aims to find new biological markers (biomarkers) that can show how active acute porphyria is in the body and how well treatments are working. Researchers will study 50 people with confirmed acute porphyria to measure gene activity related to heme production and stress …

This study surveys 30 adults with Wilson disease to learn about their daily management, treatment adherence, and interest in gene editing clinical trials. By gathering this information, researchers hope to design better future studies for potential gene therapies targeting specif…

This study uses artificial intelligence to predict when patients will fully recover from muscle relaxants given during surgery. The goal is to help doctors give the right dose at the right time, reducing the risk of breathing problems after surgery. The study will look at data fr…

This study tests a new wireless sensor that continuously measures the light dose babies receive during phototherapy for jaundice. Currently, doctors check light levels only once a day with a handheld device, which can be inaccurate. The sensor aims to provide real-time data to en…

This study looks at whether giving doctors a patient's genetic information can help them personalize chemotherapy doses and reduce serious side effects. About 860 adults with certain cancers (like breast, stomach, or head and neck) will be randomly assigned to have their doctors …

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 study collects bone marrow and blood samples, along with medical history, from people with multiple myeloma, Waldenstrom macroglobulinemia, and related disorders. The samples are stored in a tissue bank for future research to understand what causes these cancers, how they pr…

This study follows 450 infants and their families from birth to age 12 to learn how a child's biology and home environment work together to shape eating habits and growth. Researchers collect samples, measurements, and surveys at regular visits. The goal is to understand what inf…

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 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 is for people with autosomal dominant hypocalcemia types 1 or 2, rare genetic conditions that cause low blood calcium. Researchers will collect past and future health data from 95 participants to learn how the disease changes over time. The goal is to better understand…

This study follows 120 adults with Alpha-1 Antitrypsin Deficiency, a genetic condition that can cause lung and liver problems. Researchers use liver biopsies and genetic samples over 5 years to find out who develops liver scarring or cirrhosis and why. The goal is to identify ris…

This study looks at whether simple blood tests and special scans can detect liver scarring in people with urea cycle disorders. Researchers will enroll 62 participants across five U.S. centers. The goal is to find noninvasive ways to monitor liver health, avoiding the need for li…

This study aims to find new genes that cause very low cholesterol levels (a condition called FHBL). Researchers are recruiting 435 people with low cholesterol and their family members to analyze their DNA. The goal is to discover new targets for understanding and potentially mana…

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 looks back at medical records of 50 people with Mucolipidosis Type IV (MLIV) to learn how the disease typically progresses. Researchers want to know when children reach or lose developmental milestones, how their movement and vision change, and what lab results look li…

This study looks at whether pretzels made with safflower oil and soy can help postmenopausal women with metabolic syndrome maintain a healthy weight. Twenty women will eat three different types of pretzels over 14 weeks, and researchers will measure how their bodies process the s…

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 is building an online platform called DBS MatchMaker to connect doctors around the world who treat rare movement disorders with deep brain stimulation (DBS). The goal is to help doctors share knowledge and find the best ways to treat patients. Up to 500 people of all a…

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 follows 5 people with a rare, late-onset form of TPP1 deficiency (a brain disease) to track how their symptoms change over time. Researchers will use tests like brain scans, eye exams, and movement assessments to better understand the condition. The goal is to gather i…

This study follows 500 obese adults to see how different factors like diet, exercise, stress, and sleep affect weight loss. Researchers collect blood tests, measurements, and questionnaires at the start and during follow-up. The goal is to find patterns that could lead to more pe…

This study is observing over 2,500 adults with high cholesterol who are taking a combination of bempedoic acid and ezetimibe in routine medical care. Researchers are collecting data on side effects and heart risk to better understand how the treatment works in Asian and Latin Ame…

This study follows 31 Chinese adults with a specific genetic mutation (IVS4+919G>A) that causes Fabry disease, a condition where harmful substances build up and damage organs, especially the heart. Researchers use advanced heart scans and blood tests to track how the disease prog…

This study looks at how exercise changes the signals muscles send to the rest of the body, especially those that help burn fat. Researchers will compare obese, lean, and athletic participants to find proteins or genetic codes released from muscle during exercise. The goal is to b…

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…

This early-stage trial is testing a new drug called AD-117, which is being developed for mixed dyslipidemia (abnormal cholesterol levels). The study will give a single dose to 60 healthy adults, either with or without food, to see how food changes the drug's levels in the blood a…

This study tests whether a 'toolbox' of educational materials—including report cards for doctors, patient handouts, and an online decision aid—can increase the use of cholesterol-lowering statins in communities with high rates of heart disease. Researchers will track prescription…

This study screened over 16,600 adults aged 45-70 with at least one risk factor (like high blood pressure or smoking) but no known heart disease. Researchers used ultrasound and simple blood and urine tests to find hidden signs of atherosclerosis, pre-diabetes, and kidney disease…

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 is observing 5000 adults with high cholesterol who are taking bempedoic acid (alone or with ezetimibe) as part of their normal medical care. Researchers will collect data on cholesterol levels, heart events, side effects, and quality of life over one year. The goal is …

This study looks at 45 people with certain changes in the WFS1 gene to figure out if they have a milder, dominant form of wolfram-like syndrome instead of the more severe recessive form. Researchers will use eye scans (OCT) to see if the gene changes are linked to specific eye pr…

This study checks how common high levels of lipoprotein(a) — a genetic risk factor for heart disease — are among hospital staff and their families. About 2800 participants will give blood samples and be followed over time to see if high levels lead to more heart problems. The goa…

The ALOHA study is a community-based research project for adults aged 50 and older in the Washington, D.C., Maryland, and Virginia area. Over five years, participants receive annual health assessments—including physical and cognitive tests—and get a personalized 'Health Passport'…

This study is a national registry collecting data from 1500 people with familial adenomatous polyposis (FAP) and related conditions across 28 Italian centers. It aims to better understand how these diseases progress, how they are currently managed, and what factors influence outc…

This study gathers long-term health information from up to 50 people with Menkes disease, a rare genetic disorder. The goal is to track survival and nervous system changes over time. No new treatments are being tested; instead, researchers are collecting data to better understand…

This study looks at whether continuous glucose monitors (CGMs) are practical for youth aged 2 to 26 with high blood sugar during hospital stays. Researchers will compare CGM readings with standard finger-stick tests and ask patients, families, and nurses about their experience us…

This long-term study follows over 1,500 people of all ages with hypophosphatasia (HPP), a rare bone disease. Researchers will collect information on how the disease progresses, its impact on daily life, and the long-term safety and effectiveness of the treatment asfotase alfa. Th…

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 registry is following 1,000 people who have trouble tolerating statins, a common cholesterol-lowering drug. Researchers will track how often treatments are changed, cholesterol levels, and quality of life over time. The goal is to better understand this condition and improve…

This study reviews past clinical trials to see if different soy foods (like tofu, tempeh, and soy drinks) lower cholesterol as effectively as isolated soy protein. The goal is to help update dietary guidelines and health claims. No new participants are being enrolled; the researc…

This early study tests whether taking creatine supplements for a week can lower the production of homocysteine, a toxic amino acid, in healthy adult men. Homocystinuria is a rare inherited disorder where the body cannot break down homocysteine, often requiring a difficult low-pro…

This study follows about 3,000 adults in Port-au-Prince, Haiti, to learn how common heart disease risk factors like high blood pressure, diabetes, and smoking are, and how they lead to heart attacks, strokes, and other heart problems. Researchers will track participants for about…

This study tests two new ways to help people with familial hypercholesterolemia (a genetic high cholesterol condition) get their family members screened. About 800 adults from Penn Medicine will be assigned to receive automated reminders, a patient navigator, or usual care. The g…

This study looks at how breastfeeding changes cholesterol and heart disease risk in women with familial hypercholesterolemia (FH), a genetic condition causing high cholesterol. Researchers will follow 50 pregnant women with and without FH from late pregnancy to one year after bir…

This study follows 46 people with gyrate atrophy, a rare genetic condition that causes vision loss, over 4 years. Researchers measure ornithine levels in the blood and track changes in the retina using eye scans and photos. The goal is to learn how the disease progresses under st…

This study reviewed records of 70,000 adults who had non-urinary surgery under general anesthesia. It compared two drugs used to reverse muscle relaxants: sugammadex and neostigmine (given with atropine or glycopyrrolate). The goal was to see which drug is linked to fewer cases o…

This study looks at whether people with Postural Orthostatic Tachycardia Syndrome (POTS) might also have a rare condition called acute hepatic porphyria (AHP), which can cause similar symptoms like rapid heart rate and abdominal pain. Researchers will test 70 adults with POTS usi…

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 looks at how eating a diet rich in pulses—like beans, lentils, and peas—affects the gut microbiome, feelings of fullness, and appetite hormones. Researchers are enrolling 44 overweight or obese adults who will follow a high-pulse diet for four weeks. The goal is to see…

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 looks at whether a motivational interview—a 20-40 minute phone or video chat—can help people with familial hypercholesterolemia (FH) get their cholesterol checked and talk to family about screening. About 300 people with suspected or confirmed FH will be randomly assig…

This study collects medical information and tissue samples (blood, liver, and lung) from up to 5,000 people with Alpha-1 Antitrypsin Deficiency. The samples are stored and shared with researchers to learn more about the disease. No treatment or medication is given. Anyone interes…

This study follows 286 adults with Alpha-1 Antitrypsin Deficiency, a genetic condition that can damage the lungs and liver. Researchers use CT scans and blood tests over three years to see how lung density changes. The goal is to find biological markers that could help design bet…

This study looks at how the liver processes energy and removes ammonia in people with citrin deficiency, a rare genetic disorder. Researchers will give participants special 'labeled' water, fructose, and ammonium chloride to track liver activity. By comparing 10 patients with 10 …

This study looks at people with rare adrenal tumors (pheochromocytomas and paragangliomas) that do not produce excess hormones. Researchers want to see if these 'silent' tumors still cause heart problems, blood pressure changes, or metabolic issues like diabetes and high choleste…

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 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 follows 20 adults with hereditary transthyretin amyloidosis (ATTRv) who have both nerve and heart involvement. They are treated with patisiran or vutrisiran for two years. Researchers use MRI scans and questionnaires to see how the drugs affect heart structure and func…

This observational study plans to enroll 120,000 people with various chronic diseases like pancreatitis, diabetes, and arthritis. Researchers will collect blood samples and health data to study how genetics and lifestyle affect disease progression. The goal is to find common dise…

This study watches 100 people with Fabry disease who are already taking enzyme replacement therapy as part of their regular care. Researchers want to see how the treatment affects their health over time by checking things like kidney function and pain levels. The study does not t…

This study follows 317 adults with type 2 diabetes who were first examined between 2019 and 2023. Researchers will repeat advanced liver scans, blood tests, and body composition measurements to see how liver fat and scarring change over time. The goal is to find out who is most a…

This study looks at a specific DNA repair issue called homologous recombination deficiency (HRD) in people with a type of lung cancer (EGFR-mutated NSCLC). Researchers want to know how common HRD is and whether it relates to how the cancer behaves. They will also test this in lab…

This study looked at 41 healthy adults who regularly drink sugary sodas. Researchers replaced their sugary drinks with either stevia-sweetened or aspartame-sweetened beverages for 10 weeks. The goal was to see how these alternatives affect metabolism and gut bacteria. The results…

This study tests new tools to help primary care doctors diagnose familial hypercholesterolemia (FH), a genetic condition that causes very high cholesterol and early heart attacks. About 532 clinicians will use special checklists and reminders during patient visits. The goal is to…

This study was designed to observe how patients with hereditary tyrosinemia type 1 (HT-1) in China respond to nitisinone treatment in everyday medical practice. It planned to track serious health events like liver problems or death. However, the study was withdrawn before enrolli…

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 follows 70 people who previously received gene therapy for a rare immune disorder called ADA-SCID. Researchers want to see how well the treatment worked over time and check for any long-term side effects. No new treatment is given—just regular health checkups.

This study looks at how dairy fat, especially a component called milk fat globule membrane, affects inflammation after a high-fat meal. Thirty-eight adults with metabolic syndrome or obesity will consume shakes with different fats, and researchers will measure inflammatory marker…

This study looks at how eating cheese, compared to a non-dairy cheese substitute, changes inflammation levels in the body over six hours. Researchers will measure inflammatory markers in the blood of 20 adults with metabolic syndrome or obesity. The goal is to understand the shor…

This pilot study aimed to see if a self-paced virtual education video could help adolescents and young adults (ages 16-22) with congenital adrenal hyperplasia (CAH) become more independent in managing their health. Participants would have been split into two groups: one watching …

This study looks at symptoms and lab tests to help doctors better diagnose acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease, a rare genetic disorder. Researchers will track changes in spleen and liver size using ultrasound over 12 months in 7 patients. …

This study looks at how different types of fats in the blood (like cholesterol) are linked to complications in adults with sickle cell disease. Researchers will follow 116 participants from the French Caribbean islands to track their fat levels over time and during acute events l…

This study tests whether a 48-hour BH4 loading test can predict which people with phenylketonuria (PKU) will respond to treatment. Twenty participants receive BH4 and have their blood phenylalanine levels measured over two days. The goal is to link test results with each person's…

This study looks at how a gene called PDE3B affects fat tissue and the body's ability to handle sugar and fats. Researchers will compare two groups of people: those with a natural gene variant and those without. The goal is to understand if this gene could be a target for prevent…

This study looks at how the 'watch and wait' approach affects the quality of life of people with slow-growing lymphomas like CLL and follicular lymphoma. Researchers will ask 250 Korean patients to fill out questionnaires about their well-being and anxiety. The goal is to underst…

This study is gathering medical information from 120 people with PMM2-CDG, a rare genetic disorder. Researchers will track growth, organ function, and development over time. The goal is to better understand the disease and help design future treatments. No new drugs are being tes…

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 looks at how children with CLN2 Batten disease develop over time, including their thinking, language, and motor skills. Researchers will compare children who receive treatment (cerliponase alfa) with those who do not. The goal is to find better ways to measure the dise…

This study looks at why storing fat around organs like the liver affects some people's health more than others. Researchers will measure insulin sensitivity and inflammation in 144 lean and obese adults. The goal is to find better ways to treat diseases like diabetes and heart di…

This study is a review of many smaller trials that looked at what happens when people replace animal protein (like meat, dairy, eggs) with plant protein (like beans, nuts, seeds). The goal is to see if this simple swap can improve blood sugar, cholesterol, blood pressure, weight,…

This study planned to test whether an 8-week course of a flavored drink containing essential amino acids plus arginine could reduce liver fat and improve metabolism in obese children aged 7-10. The researchers intended to measure changes in liver fat, blood fats, insulin sensitiv…

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 …

This study aims to develop and test educational content that explains statin side effects, including placebo and nocebo effects. Researchers will gather feedback from 30 adults with cardiovascular risk factors through surveys and interviews. The goal is to see if this content is …

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 pilot study aimed to see if taking fish oil supplements could improve gut bacteria and make exercise more effective at reducing inflammation in people with obesity. The study was withdrawn before any participants were enrolled, so no results or conclusions are available.