Congenital hematological disorder

This study tested two drugs, plerixafor and G-CSF, in 20 people with WHIM syndrome, a rare genetic condition that causes frequent infections and warts. Participants received each drug for a year and tracked their infections. The goal was to see which drug better reduced infection…

This study tested a drug called mitapivat (AG-348) in 52 adults with pyruvate kinase deficiency, a rare genetic condition that causes red blood cells to break down too quickly, leading to anemia. The goal was to see if different doses of the drug are safe and help control the dis…

This study looked at whether giving the antibiotic vancomycin helps cancer patients who have diarrhea and a positive screening test for C. difficile but a negative toxin test. Only 9 patients were enrolled, far fewer than planned. Researchers measured changes in C. difficile leve…

This early-stage study tested whether adding a drug called BMS-986004 to standard immune-suppressing medicine could help prevent acute graft-versus-host disease (GVHD) in 45 adults with blood cancers or disorders receiving a stem cell transplant. GVHD occurs when donor immune cel…

This study tested a drug called alemtuzumab (Campath) as a first treatment for children with hemophagocytic lymphohistiocytosis (HLH), a rare and life-threatening immune disorder. The goal was to see if it could help children survive until they could receive a stem cell transplan…

This study tested whether a hydrochloric acid lock can help treat central line infections in 212 cancer and blood disease patients. The acid solution was placed in the line for 10 minutes, repeated three times, alongside standard antibiotics. The goal was to see if it reduces tre…

This phase 2 trial tested a combination of treosulfan, fludarabine, and rabbit antithymocyte globulin before a bone marrow transplant in 40 people with bone marrow failure diseases like Diamond-Blackfan anemia and Shwachman-Diamond syndrome. The goal was to see if this conditioni…

This study tested a medicine called BAX 930 in 52 people born with severe TTP, a rare condition that causes dangerous blood clots. The medicine replaces a missing enzyme to prevent or treat sudden flare-ups. Participants received either BAX 930 or standard treatment for 6 months,…

This study looked at the long-term safety and effectiveness of the drug mitapivat in 90 adults with pyruvate kinase deficiency, a rare genetic blood disorder that causes red blood cells to break down too quickly. Participants had already completed earlier studies of mitapivat and…

This study looked at 50 patients who needed a stem cell transplant from a partially matched donor but had antibodies that could attack the donor cells. Before transplant, they received a blood purification treatment called protein A immunoadsorption to remove those antibodies, so…

This phase 1 trial tested a gene therapy called RP-L301 in 4 people with pyruvate kinase deficiency, a rare inherited blood disorder that causes severe anemia and often requires frequent blood transfusions. The treatment uses the patient's own blood stem cells, which are modified…

This study tested whether quercetin, a natural substance found in some foods, could help prevent a type of mouth cancer in people with Fanconi anemia, a rare genetic condition that raises cancer risk. 48 participants took quercetin to see if it reduced certain cell changes linked…

This study looked at whether touch-massage can reduce anxiety in people with blood disorders (like leukemia or lymphoma) who are hospitalized in a sterile, isolated room. Sixty-two patients received three massage sessions, and researchers measured their anxiety levels before and …

This study tested a monthly online peer support group for young adults (ages 18-39) who had received a stem cell transplant. The group met for one hour over six months, led by a nurse and social worker. The goal was to see if the program was practical and helpful for reducing anx…

This study tested whether montelukast (Singulair), a common asthma drug, can reduce the number and severity of infusion reactions in people receiving monoclonal antibody treatments for blood disorders. Forty adults were given montelukast along with standard premedication before t…

This study followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progress…

This study looked for a virus called HHV6 in the skin and blood of 37 adults with blood cancers who developed a rash during hospital stays. The goal was to see if the virus is linked to the rash, which could help doctors diagnose and treat the rash more effectively. The study is …

This study looked at how often people with certain blood cancers or related conditions have an acquired deficiency of an enzyme called pyruvate kinase, which can cause anemia. Researchers took a single blood sample from 18 participants to measure enzyme activity and check for rel…

This study examined how the drug tranexamic acid (TXA) affects blood clotting in women having planned C-sections. Researchers measured clot breakdown times in 34 participants to see if TXA could help prevent heavy bleeding after delivery. The goal was to better understand how TXA…

This study looked at whether it is safe to lower the number of platelets needed before placing a central line (a special IV) in patients with blood disorders. Normally, patients get a platelet transfusion if their count is below 50, but this study tested a lower trigger of 10. Th…

This study looked for new genes that cause a rare condition called syndromic congenital neutropenia, where children are born with low infection-fighting white blood cells and other developmental issues. Researchers used advanced gene sequencing on 25 participants to find the gene…

This completed study tested whether artificial intelligence and MRI scans could help automate the planning of total marrow irradiation, a type of radiation therapy given before a bone marrow transplant for blood cancers. Researchers aimed to reduce the 10-day planning time and be…

This study looked at over 1,200 people in Denmark who had a stem cell transplant for blood diseases, some as far back as 1970. Researchers used detailed surveys to measure late effects and quality of life. The goal is to find out what medical and personal factors help survivors f…

This completed study examined lung CT scans from 148 adults with blood diseases to identify common patterns of lung involvement. Researchers tracked how often certain radiological features appeared and counted complications. The goal was to better understand the range of lung iss…

This pilot study tested whether a combination of two drugs (G-CSF and plerixafor) could safely collect enough stem cells from the blood of children with Fanconi anemia for future gene therapy. Only 4 patients took part, and the main goal was to see if the cell collection process …