Disorder of glycosylation

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 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 early-stage trial is testing the safety of a dietary supplement called NMN in 8 people with a rare genetic disorder known as DHDDS-CDG, which affects movement and development. Participants will take 250 mg of NMN daily for 6 months, with an optional 12-month follow-up. The m…

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 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 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 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 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 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 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 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 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 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 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 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…