Acquired metabolic disease

This study tests a new treatment called AZD0120 for people with AL amyloidosis, a rare disease where abnormal proteins build up in organs. The therapy uses a patient's own immune cells, modified to target and destroy harmful cells. The study aims to see if it is safe and effectiv…

This study tests a stem cell transplant using blood stem cells from a half-matched family donor (haploidentical) for people with severe aplastic anemia, related MDS, or PNH. Participants receive chemotherapy and a single radiation dose before the transplant, plus a drug to preven…

This study tests a new way to do stem cell transplants for people with severe aplastic anemia or other bone marrow failure diseases. Doctors give a smaller number of donor white blood cells along with the stem cells to try to reduce serious side effects. Up to 120 patients aged 4…

This study tests two experimental drugs, pozelimab and cemdisiran, together in 35 adults with paroxysmal nocturnal hemoglobinuria (PNH) whose red blood cell destruction is not well-controlled by current C5 inhibitors. The goal is to see if the combination can lower hemolysis (bre…

This study follows about 200 adults with paroxysmal nocturnal hemoglobinuria (PNH) who are taking pegcetacoplan (Aspaveli/Empaveli) as part of their routine care. Researchers will track blood markers, symptoms, and side effects for up to 3 years to see how well the drug works out…

This study tracks 8 Korean patients with paroxysmal nocturnal hemoglobinuria (PNH) who are taking Danicopan alongside standard C5 inhibitors like eculizumab or ravulizumab. The goal is to monitor safety and check if the drug works as expected in everyday medical practice. It is a…

This phase 2 trial tests whether dapagliflozin, a diabetes drug, is safe and can lower high urine protein levels in people with renal AL amyloidosis—a rare condition where abnormal proteins damage the kidneys. About 20 participants will take the drug daily for 6 months and be mon…

This study tests a drug called pegcetacoplan in 12 to 17-year-olds with paroxysmal nocturnal hemoglobinuria (PNH), a rare blood disorder that destroys red blood cells. The drug aims to control the disease by blocking part of the immune system. The trial will check safety, how the…

This study is monitoring the safety and effectiveness of the drug iptacopan (Fabhalta) in 21 Korean adults with paroxysmal nocturnal hemoglobinuria (PNH) or C3 glomerulopathy (C3G). Researchers will track side effects and lab results from routine medical records. The goal is to s…

This study tests an experimental drug called linvoseltamab in 220 people with AL amyloidosis that has returned or not improved after prior therapy. The drug aims to reduce abnormal proteins that damage organs like the heart and kidneys. The trial first finds the safest dose, then…

This study is testing the long-term safety and effectiveness of two experimental drugs, pozelimab and cemdisiran, taken together for paroxysmal nocturnal hemoglobinuria (PNH), a rare blood disorder. About 202 participants who completed a prior study will continue treatment to see…

This study tests a combination of two drugs, venetoclax and dexamethasone, in people with a rare blood disorder called AL amyloidosis that has come back or not improved after treatment. The trial includes 53 adults with a specific genetic marker (t(11;14)). The goal is to find th…

This study tests an experimental drug called ALN-CFB in people with paroxysmal nocturnal hemoglobinuria (PNH) who still have low red blood cells despite standard treatment. The goal is to see if adding ALN-CFB is safe and can improve anemia. About 24 participants will receive eit…

This study tests a new drug called ADX-038 in healthy volunteers and people with PNH who still have low red blood cells despite treatment. The goal is to check safety and how the drug works in the body. It is an early-stage trial with 50 participants.

This study tests whether combining two drugs, teclistamab and daratumumab, can help people newly diagnosed with both multiple myeloma and light chain amyloidosis. About 30 adults will receive the treatment for up to 24 cycles. The goal is to see if the combo improves survival wit…

This early-phase trial is testing a new type of gene therapy called CAR 70-BCMA dual-target CAR-T for people with relapsed or refractory plasma cell neoplasms, including multiple myeloma. The therapy involves taking a patient's own immune cells, re-engineering them to recognize a…

This program provides early access to danicopan for adults with paroxysmal nocturnal hemoglobinuria (PNH) who have significant extravascular hemolysis (EVH) despite treatment with Soliris or Ultomiris. Participants must be 18 or older, have anemia and high reticulocyte counts, an…

This early-phase trial tests a personalized cell therapy called BCMA-targeted CAR-T cells in 30 adults with relapsed or refractory light chain amyloidosis, a rare disease where abnormal proteins build up in organs. The treatment uses the patient's own immune cells, modified to at…

This early-phase study tests an experimental drug called JNJ-79635322, a trispecific antibody designed to attack cancer cells in people with relapsed or refractory multiple myeloma or AL amyloidosis. About 180 participants will receive the drug to find a safe dose and check for s…

This phase 2 trial tests a bone marrow transplant using lower doses of chemotherapy and radiation to prepare the body, along with a drug called cyclophosphamide after transplant to prevent graft-versus-host disease. It enrolls 60 people with severe aplastic anemia or related bone…

This study looks at how well the drug iptacopan works for adults with paroxysmal nocturnal hemoglobinuria (PNH), a rare blood disorder. Researchers will track changes in hemoglobin levels and other health outcomes in 80 patients across China. The goal is to see if iptacopan impro…

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This early-stage trial tests the safety of a new drug called EA5 in 24 adults with paroxysmal nocturnal hemoglobinuria (PNH), a rare blood disorder that destroys red blood cells. The drug is an antibody designed to block part of the immune system that attacks blood cells. The goa…

This study tests an experimental drug called etentamig (ABBV-383) in adults with AL amyloidosis, a rare disease where abnormal proteins build up in organs. About 76 participants will receive the drug by infusion to see if it is safe and can control the disease. The trial has two …

This study tests a drug called pegvisomant in 25 adults with severe insulin resistance caused by lipodystrophy or insulin receptor gene changes. Participants give themselves daily shots for one month and have two hospital stays for tests. The goal is to see if blocking growth hor…

This study tests a drug called belantamab mafodotin in people with a rare blood disease called AL amyloidosis that has come back or not responded to other treatments. The goal is to find the safest and most effective dose. The study has two parts: first, different doses are teste…

This study tests a new drug called TQB2934 for people with systemic light chain amyloidosis, a rare disease where abnormal proteins damage organs. The drug is a bispecific antibody that helps the immune system target and destroy harmful cells. The trial will enroll 70 adults who …

This phase 3 trial tests whether adding a stem cell transplant to standard chemotherapy helps people with newly diagnosed AL amyloidosis. About 338 participants will receive either chemo alone or chemo followed by a stem cell transplant. The goal is to see which approach better d…

This early-phase trial is testing a new treatment called GC012F for people with AL amyloidosis that has come back or not responded to other therapies. GC012F is a type of immunotherapy that uses a patient's own immune cells, modified to attack two specific targets on the abnormal…

This study tests a drug called teclistamab in 30 people with AL amyloidosis, a rare disease where abnormal proteins damage organs. Participants have already had other treatments. The goal is to see if teclistamab can reduce or eliminate the harmful proteins in the blood. The stud…

This study tests a medicine called iptacopan in children aged 2 to under 18 who have a rare blood disease called PNH. The goal is to see how the drug works in their bodies and if it is safe. About 12 children will take the medicine, and doctors will monitor side effects and blood…

This study tests a new drug called HS-10542 in adults with paroxysmal nocturnal hemoglobinuria (PNH), a rare blood disorder that destroys red blood cells. The goal is to see if the drug can safely raise hemoglobin levels and reduce the need for blood transfusions. About 50 partic…

This phase II trial at Mayo Clinic is testing whether longer maintenance therapy with daratumumab can improve survival for people with AL amyloidosis. About 96 adults who have already responded to initial daratumumab treatment will be randomly assigned to shorter or longer mainte…

This phase 2 trial is testing a drug called CM336 in 21 people newly diagnosed with AL amyloidosis, a rare disease where abnormal proteins build up in organs. CM336 is a bispecific antibody that helps the immune system target and destroy the cells making these proteins. The study…

This study tests a personalized approach for people with AL amyloidosis who have a specific genetic change called t(11;14). All 41 participants start with a standard three-drug combination. If their blood responds quickly within a week, they continue that treatment; if not, they …

This study tests a drug called elranatamab in people with AL amyloidosis that has come back or not responded to prior treatment. The goal is to find a safe dose and see if the drug can reduce abnormal protein levels. About 49 adults will take part in this early-phase trial.

This phase 3 trial tests whether adding the experimental drug SCTC21C to standard chemotherapy (bortezomib, cyclophosphamide, dexamethasone) works better than chemo alone for people newly diagnosed with AL amyloidosis. The study will enroll 90 participants and measure how well th…

This registry monitors the safety and effectiveness of metreleptin in up to 100 people with generalized or partial lipodystrophy who are already taking the drug in routine care. Researchers will track serious events like pancreatitis, liver problems, infections, and cancers. The …

This phase 3 study tests whether adding danicopan to standard PNH medications (ravulizumab or eculizumab) can improve hemoglobin levels in children aged 12 to 17 with paroxysmal nocturnal hemoglobinuria who still have significant anemia from extravascular hemolysis. Six participa…

This program provides early access to the drug iptacopan for people with serious or life-threatening C3 glomerulopathy (C3G) or paroxysmal nocturnal hemoglobinuria (PNH) who have no other treatment options. It is designed for patients who cannot join a clinical trial or have exha…

This study tests an experimental drug called CM336 in 90 adults whose primary light-chain amyloidosis has come back or not responded to prior treatments. The drug is designed to help the immune system attack the abnormal cells causing the disease. The main goal is to see how many…

This study tests whether two drugs, teclistamab and daratumumab, can safely and effectively treat AL amyloidosis, a rare disease where abnormal proteins damage organs. The treatment lasts about 6 months. Researchers will check if the drugs can make the abnormal proteins disappear…

This phase 2 trial tests whether tirzepatide (Mounjaro), a drug already approved for diabetes and weight loss, can improve blood sugar and lower triglycerides in people with partial lipodystrophy—a rare condition where the body loses fat tissue. Researchers will compare tirzepati…

This study tests whether a radioactive tracer called Florbetaben F18 can reliably detect amyloid deposits in the heart using PET scans. Researchers will scan 15 people with and without cardiac amyloidosis twice to see if the results are consistent. The goal is to improve diagnosi…

This study tests a radioactive imaging agent called Iodine-124 evuzumitide (AT-01) in 150 people with systemic amyloidosis. The goal is to see how well it detects amyloid deposits in the heart and other organs using PET/MRI or PET/CT scans. If accurate, it could become a new tool…

This study at Mayo Clinic is testing whether a special MRI technique called magnetic resonance elastography (MRE) can measure stiffness in the hearts of people with cardiac amyloidosis, a condition where abnormal proteins build up and stiffen the heart. Researchers will enroll 20…

This study is testing a new imaging agent called [18F]FT8 to see if it can help doctors better see and diagnose amyloidosis, a disease where abnormal proteins build up in organs like the heart. The study will involve 20 patients with amyloidosis and 5 healthy volunteers. Research…

This study tests whether giving the drug daratumumab as a shot in the upper thigh works as well as the usual shot in the abdomen for people with plasma cell disorders like multiple myeloma. The goal is to find a less painful or more accessible injection spot. About 30 adults will…

This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

This study tests a new PET scan technique to better track heart damage in people with a condition called ATTR-CM, a progressive heart muscle disease. Researchers will scan 140 participants to see if the imaging can show how well treatments are working. The goal is to improve moni…

This study looks at how well the drug iptacopan works for people with paroxysmal nocturnal hemoglobinuria (PNH) in everyday medical practice. Researchers will track 50 Italian patients for 12 months to see if their anemia improves and if they need fewer blood transfusions. The go…

This study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

This study is testing how to safely perform skin allergy tests in people receiving biotherapies for cancers and blood disorders. Researchers will find the highest concentration of each biotherapy that does not cause a skin reaction in 9 out of 10 patients. The goal is to establis…

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This study is a worldwide registry that follows 5,000 adults with breast cancer, blood cancers, or those on immune checkpoint inhibitors. Researchers collect medical records, lab results, and imaging to identify who is at risk for heart problems during or after cancer treatment. …

This study looks at a specific gene (IGLV1-44) to understand why it causes two different diseases: AL amyloidosis and POEMS syndrome. Researchers will analyze blood and bone marrow samples from 100 adults with these conditions or multiple myeloma. The goal is to find genetic patt…

This study is building a large registry of 5,000 people with AL amyloidosis, a rare disease where abnormal proteins build up in organs. Researchers will collect real-world data on how the disease progresses and how current treatments affect it. No new drug is being tested; the go…

This study is creating a large European registry of 400 newly diagnosed AL amyloidosis patients. Researchers will collect medical data and blood samples to study the disease using advanced technology. The goal is to better understand how AL amyloidosis develops and progresses, wh…

This study is creating a network of hospitals in Italy to find and treat AL amyloidosis earlier. Researchers will screen people with certain blood conditions (MGUS or smoldering myeloma) using special tests. The goal is to speed up diagnosis, connect patients to the right care, a…

This study follows 75 pregnant women who have taken Ultomiris (ravulizumab) for conditions like PNH or aHUS. Researchers will track pregnancy outcomes and baby health up to one year after birth. The goal is to gather safety information, not to test a new treatment.

This study looks at whether people with vascular Ehlers-Danlos syndrome (vEDS), a rare genetic disorder that weakens blood vessels, also have problems with how their body stores and uses fat. Researchers will compare 12-17 adults with vEDS to similar adults without the condition …

This early-stage study tests a new drug called CMS-D017 in 88 healthy adults to see if it is safe and how the body processes it. The drug is being developed for two rare conditions: paroxysmal nocturnal hemoglobinuria (a blood disorder) and complement-mediated kidney disease. Par…

This study is creating a database of up to 5,000 people in Ohio with plasma cell disorders like multiple myeloma and amyloidosis. Researchers will track treatments, outcomes, and quality of life, while also offering patients access to expert consultations and information about su…

This study follows about 500 people with lipodystrophy (a rare condition where the body loses fat tissue) for 5 to 7 years. Researchers want to find out how often diabetes and very high blood fats (triglycerides) occur, and what health problems they cause. Participants visit once…

This study looks at whether a rapid drop in a blood marker called dFLC can predict a complete response in people with AL amyloidosis treated with daratumumab-based therapy. Researchers will follow 50 patients to see if early changes in dFLC levels match up with later treatment su…

This study investigates how a sugar modification called N-glycosylation affects AL amyloidosis, a rare disease where abnormal proteins build up in organs. Researchers will analyze blood and bone marrow samples from 100 adults with related conditions to better understand the disea…

This study is creating a biobank and data registry for people with amyloidosis, a rare disease where abnormal proteins build up in organs. Researchers will collect blood, urine, tissue samples, and medical information from 505 participants over time. The goal is to store these ma…

This study looks at the gut microbiome (the bacteria living in the digestive system) of people with POEMS syndrome, multiple myeloma, MGUS, AL amyloidosis, and healthy household members. Participants provide stool samples at home using a collection kit. The goal is to understand …

This study uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

This study is creating a large database of people in China with various blood diseases, such as leukemia, multiple myeloma, and hemophilia. Researchers will collect information from medical records and follow participants over time to learn about disease patterns, treatments, and…

This study creates a registry of 5,000 adults aged 50 and older with blood cancers like multiple myeloma and lymphoma. Researchers will track frailty, muscle loss, and other age-related health issues to better understand this group's needs. The goal is to gather information that …

This study is a European registry for people with lipodystrophy, a rare condition where the body loses or lacks fat tissue. Researchers will follow up to 5,000 patients over time, collecting health data and genetic information. The goal is to better understand the disease, its pr…

This study tests whether a special ultrasound treatment, combined with a contrast agent, can improve blood flow and heart function in people with cardiac amyloidosis. Researchers will measure changes using PET scans and echocardiograms. The trial includes 70 participants with and…

This study is for people with light chain amyloidosis, a rare disease where abnormal proteins build up in the heart and other organs. Researchers will use special PET and MRI scans to take detailed pictures of these protein deposits in the heart. The goal is to better understand …

This study is creating a large collection of blood samples, tissue, and health information from 2,500 people with plasma cell disorders like multiple myeloma. Researchers will use this repository to better understand how the disease develops and changes over time. No new treatmen…

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

This early-stage study is testing a single dose of the drug HSK39297 in 24 adults with paroxysmal nocturnal hemoglobinuria (PNH) who have mild or moderate liver impairment, compared to those with normal liver function. The goal is to see how the liver affects drug levels and safe…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…