Inherited hemoglobinopathy

This study tested a new oral medicine called NDec in 96 adults with sickle cell disease. The goal was to see if it safely raises hemoglobin levels and reduces painful crises. Participants took capsules twice weekly for about a year, with some also continuing their usual hydroxyur…

This study tested whether giving children with transfusion-dependent thalassemia a combination of hydroxyurea and thalidomide works better than either drug alone. Ninety children aged 3-18 were split into three groups: one getting both drugs, one getting only hydroxyurea, and one…

This study tested a nutraceutical supplement called NUV001 in 168 adults with sickle cell disease. Participants took either an immediate-release or gastro-resistant version of NUV001, or a placebo, daily for 90 days. The main goal was to check safety and tolerability, with early …

This study looked at whether teaching mothers about nutritious local foods can prevent malnutrition in children with sickle cell disease (SCD) in northern Nigeria. 146 children aged 6 to 18 months with SCD took part. Community health workers gave mothers special nutrition advice,…

This early-stage trial tested a new drug called PF-07209326 in 52 people, first in healthy volunteers and then in patients with sickle cell disease. The main goal was to check safety and how the body processes the drug. Researchers also looked for any early signs that the drug mi…

This study tested whether losartan, a blood pressure medication, can reduce or stop scarring in the heart muscle of people with sickle cell disease. Fourteen participants aged 6 and older took losartan for 12 months. The goal was to see if the drug could improve heart health and …

This early-stage study tested a new gene-edited stem cell transplant in 2 children with severe β-thalassemia, a serious blood disorder requiring lifelong transfusions. The treatment aims to help the body produce healthy red blood cells and reduce or stop the need for transfusions…

This completed Phase 2 trial tested an oral drug called epeleuton in 35 adults with sickle cell disease. The goal was to see if it could reduce painful vaso-occlusive crises and improve blood cell health. Participants took 2000 mg capsules twice daily for 16 weeks, and researcher…

This phase 2 trial tested whether combining thalidomide and hydroxyurea can reduce the need for blood transfusions in people with transfusion-dependent beta thalassemia. The study enrolled 100 patients over age 2 in Pakistan, where thalassemia is common and life expectancy is low…

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 phase 2 trial tested a half-matched (haploidentical) bone marrow transplant in 95 children and adults with severe sickle cell disease. The goal was to see if this approach could help patients live without major complications for two years. Participants received a reduced-int…

This pilot study tested a stem cell transplant from closely matched unrelated donors for 8 patients with severe sickle cell disease or thalassemia major. The donated stem cells were specially processed to remove certain immune cells to reduce the risk of rejection and graft-versu…

This completed Phase 4 trial tested two drugs—hydroxyurea and metformin—in 96 people with transfusion-dependent beta-thalassemia. Participants took one of the two drugs for a year. Researchers measured changes in fetal hemoglobin levels and how often blood transfusions were neede…

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 study tested an experimental drug called etavopivat in 12 children and young adults (ages 12-21) with sickle cell disease. The goal was to see if the drug could improve blood flow and oxygen delivery to the brain and muscles. Participants took the drug and had scans to measu…

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 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 early-phase study tested a gene therapy for sickle cell disease in 6 patients aged 12-20. Doctors took the patients' own blood stem cells, added a working gene to help produce healthy red blood cells, and infused them back after chemotherapy. The goal was to see if the treat…

This pilot study tested a combined bone marrow and kidney transplant from a partially matched family donor in 10 people with both a blood disorder and chronic kidney disease. The goal was to treat both conditions at once and possibly reduce the need for lifelong anti-rejection dr…

This early-phase study tested a new gene-edited stem cell treatment (CS-101) in 5 people with beta-thalassemia, a severe blood disorder requiring regular blood transfusions. The goal was to see if the treatment is safe and can help patients produce healthy red blood cells, potent…

This early-stage study tested a new drug, Pociredir (FTX-6058), in 45 adults with sickle cell disease to see if it is safe and how the body processes it. The main goal was to check for side effects and measure drug levels in the blood. Researchers also looked at changes in fetal …

This study tested a new treatment called ET-01 in 3 people with transfusion-dependent beta-thalassemia, a blood disorder that requires regular blood transfusions. The treatment uses the patient's own stem cells, which are modified and then transplanted back. The goal was to see i…

This early-stage study tested a single dose of a gene therapy called CS-101 in 9 people with beta-thalassemia major, a severe blood disorder requiring lifelong transfusions. The main goals were to check safety and see if the treatment helps the body make more healthy hemoglobin. …

This study tested whether red blood cells from umbilical cord blood are safe and work as well as standard adult donor blood for transfusions in extremely preterm infants (born before 28 weeks). 41 babies received small transfusions, and researchers monitored their vital signs, ox…

This study tested a once-weekly injection called dulaglutide (a GLP-1 drug) against daily insulin in 80 children aged 10-18 with transfusion-dependent thalassemia and diabetes. The goal was to see if the weekly shot could control blood sugar just as well or better than insulin ov…

This study tested whether L-Arginine, a natural amino acid, could improve heart function in children with sickle cell disease who have increased blood pressure in their lungs. Fifty children aged 5-18 took L-Arginine capsules for 3 months. Researchers measured changes in heart bl…

This study tested a drug called crizanlizumab in 36 men with sickle cell disease who suffer from priapism—painful erections lasting an hour or more. The goal was to see if the drug could reduce how often these events happen. Participants received the drug by IV and reported their…

This study tested whether adding erythropoietin (EPO) to the standard drug hydroxyurea can safely raise hemoglobin levels in adults with sickle cell disease. Seventeen participants with chronic anemia took both drugs for 12 weeks. The main goal was to see if at least a 1.0 g/dL i…

This Phase 2 study tested an experimental drug called etavopivat in 53 people with thalassemia or sickle cell disease. The goal was to see if the pill could safely reduce the number of red blood cell transfusions needed and raise hemoglobin levels. Participants took 400 mg of eta…

This early-phase clinical trial tested a gene therapy for adults with severe sickle cell disease. The treatment involved taking the patient's own blood stem cells, modifying them with a harmless virus to carry a healthy gene, and infusing them back after mild chemotherapy. Only 4…

This study tested a single treatment using CRISPR gene editing to modify a person's own blood stem cells, aiming to help people with severe beta-thalassemia stop needing regular blood transfusions. 59 participants received the therapy and were monitored for safety and how long th…

This study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…

This study tested a drug called inclacumab in about 240 people with sickle cell disease who experience painful vaso-occlusive crises. Participants received either inclacumab or a placebo by IV infusion. The main goal was to see if inclacumab could reduce the number of these painf…

This study tested whether giving oxygen at home during the night could prevent severe pain episodes and other complications in pregnant women with sickle cell disease. 178 pregnant women took part, using an oxygen device for 4 hours each night. The goal was to see if this simple …

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 study tested a drug called crizanlizumab in 117 children aged 2 to 18 with sickle cell disease who have had painful vaso-occlusive crises. The goal was to find the right dose and check safety, with some children also taking hydroxyurea. The drug works by blocking a protein i…

This small study tested whether L-glutamine, a common supplement, can reduce high blood pressure in the lungs of adults with non-transfusion-dependent thalassemia. Eight participants took either glutamine plus standard care or standard care alone for 60 days. The main goal was to…

This small pilot study tested whether famotidine, a widely used heartburn drug, can reduce a blood marker linked to painful crises in children with sickle cell disease. Thirty children took the medicine for 29 days. The goal was to see if the drug lowers P-selectin levels, which …

This study tested whether giving sickle cell patients two drugs (azathioprine and hydroxyurea) for three months before a stem cell transplant could help the transplant work better. Twenty adults with a matched sibling donor took part. The goal was to see if this approach could re…

This study tested the safety of a drug called crizanlizumab in 140 Indian patients aged 16 and older with sickle cell disease who have had painful crises. The drug was given by IV infusion over several months, with or without standard hydroxyurea therapy. The main goal was to che…

This study tested whether taking vitamin D every day could reduce lung complications in children and teens with sickle cell disease. Lung problems like infections, asthma attacks, and acute chest syndrome are major causes of illness and death in this condition. Researchers gave d…

This early-phase trial tested a new gene therapy called BIVV003 in 7 adults with severe sickle cell disease. The treatment uses the patient's own stem cells, which are gene-edited in a lab and then infused back after chemotherapy. The main goals were to check safety and see if th…

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 phase 2 trial tested a bone marrow transplant from a half-matched (haploidentical) donor in 25 people with severe sickle cell disease. The goal was to see if a less intense conditioning regimen and a drug called cyclophosphamide could prevent graft-versus-host disease while …

This study tested a new MRI technique called QSM to measure iron levels in the liver more accurately than current methods. Researchers compared MRI results from 55 patients before liver transplant with chemical analysis of their removed livers. The goal is to improve diagnosis an…

This study looked at whether the Montreal Cognitive Assessment (MoCA), a short test, can accurately screen for thinking and memory problems in adults with sickle cell disease. Researchers compared MoCA results to a full set of standard cognitive tests in 65 adults. The goal is to…

This study looked at 100 children with beta-thalassemia major and iron overload to see if simple blood tests (ferritin and hepcidin) can detect liver scarring (fibrosis) as accurately as other non-invasive methods. Researchers measured these blood markers and compared them to ult…

This study tested a drug called crovalimab in 95 people with sickle cell disease to see if it could prevent vaso-occlusive episodes (painful blockages in blood vessels). Participants received either crovalimab or a placebo alongside their usual treatments. The goal was to measure…

This study tested whether daily zinc supplements can lower the number of serious infections in young children with sickle cell anemia. Researchers in Uganda gave 100 children either zinc or a placebo for a period and tracked infections. The goal is to find an affordable, easy-to-…

This study tested a personalized exercise program called Gerofit for older adults with sickle cell disease. The goal was to see if the program is safe, doable, and helps improve physical health and quality of life. Thirty participants took part in tele-exercise sessions focusing …

This phase 3 trial tests whether intravenous arginine, an amino acid, can shorten painful episodes in children with sickle cell disease. Participants aged 3 to 21 receive either arginine or a placebo alongside standard pain treatment. The study measures how quickly the crisis res…

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 daily dietary supplement called NUV001 in 12 adults with sickle cell disease (SS type) over 120 days. The main goals were to see if it is safe and tolerable, and to measure its effects on blood health and quality of life. Researchers tracked side effects, hosp…

This study tested a mobile prayer program called PUSH (Pray Until Something Happens) to see if it could help adults with sickle cell disease feel less stress and pain. 40 people who had pain and used opioids took part. They listened to guided prayer recordings on a smartphone. Th…

This study tested whether a medicine called Intravenous Immunoglobulin (IVIG) is safe and helps shorten painful episodes in people with sickle cell disease. 300 participants aged 6 to 65 took part. The goal was to see if IVIG could reduce how long the pain lasts and how much stro…

This study tested whether guided relaxation and acupuncture can reduce chronic pain and opioid use in adults with sickle cell disease. About 360 participants across three health centers were randomly assigned to one of these therapies or usual care. The goal was to see if these m…

This small study tested whether nitrous oxide (laughing gas) can quickly relieve severe pain in children with sickle cell disease during a pain crisis. Five patients aged 8 to 18 who still had high pain after standard treatment received nitrous oxide in the emergency room. Resear…

This study tested a drug called canakinumab (ACZ885) in 49 children and young adults aged 8-20 with sickle cell anemia. The goal was to see if it could reduce daily pain compared to a placebo. Participants rated their pain daily using a 0-10 scale, and researchers measured change…

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 looked at whether aquatic (water) exercises could improve muscle strength and quality of life in 50 children aged 6-10 with sickle cell anemia. Children did water-based activities to see if it helped their grip strength, leg and trunk muscles, and overall well-being. T…

This study tested whether hyperbaric oxygen therapy — breathing pure oxygen in a pressurized chamber — could reduce pain and hospital stays for adults having a sickle cell pain crisis. Eight adults with uncomplicated crises received 1 to 3 sessions. Researchers measured pain chan…

This study tested a program called I-STRONG, which combines mind and body training to help teenagers with sickle cell disease cope with pain. Researchers worked with 45 teens to see if the program was practical and well-liked. The goal was to reduce pain severity and improve dail…

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 tested whether a 12-minute guided relaxation video on a tablet could help adults with sickle cell disease manage pain and stress during a hospital stay. 46 participants were randomly assigned to watch the relaxation video or discuss their sickle cell experiences. The g…

This study tested whether a 20-minute virtual reality session with hypnosis suggestions could reduce pain and anxiety in children with sickle cell disease during a painful crisis. Twelve children aged 6 and older used a VR headset while listening to calming narratives designed fo…

This study explored how family members share health information about genetic diseases like sickle cell, diabetes, and cancer. Over 1,000 adults completed surveys or interviews about their family health history and support. The goal was to understand social and relational factors…

This completed study looked at why people with sickle cell disease develop chronic leg ulcers. Researchers collected skin swabs, blood samples, and survey data from 405 adults to explore the role of skin bacteria and environmental factors. The goal was to better understand the ca…

This completed Phase 1 study looked at 27 people with and without pulmonary hypertension to learn more about how blood vessel problems contribute to the disease. Researchers used heart catheterization, imaging, and blood tests to find biomarkers and understand disease mechanisms.…

This study looked at what happens in the blood of people with sickle cell disease during painful attacks. Researchers compared blood samples taken during a pain crisis to samples taken when participants were feeling well. The goal was to learn more about the role of inflammation …

This study measured how common pulmonary hypertension (high blood pressure in the lungs) is in adults with sickle cell anemia. Nearly 1,000 participants had heart ultrasounds and blood tests, then were contacted by phone for up to 3 years to track their health. The goal was to un…

This completed observational study looked at how often young people with sickle cell disease (under 26) in France develop problematic use of painkillers and a gas mixture called EMONO. Researchers interviewed over 1,000 patients by phone to check for signs of addiction or depende…

This study looked at over 30,000 adults admitted to hospitals in Maryland to understand why some patients wait in the emergency room even after being admitted (called boarding). Researchers wanted to find out what patient traits lead to longer waits, how boarding increases health…

This study followed 67 children with sickle cell disease who had a high risk of stroke. Researchers compared those who received a bone marrow transplant to those who got standard care, checking brain scans and thinking skills 9-10 years later. The goal was to see which approach b…

This study looked at whether two different telemedicine models could help children with sickle cell disease living in medically underserved areas get better care. Researchers tested the models with 24 families and measured things like appointment attendance, lab work, and satisfa…

This study tested an electronic diary for adults with sickle cell disease to track daily symptoms like pain, tiredness, and ability to do usual activities. About 98 participants used the diary for 6 months, and researchers compared those on disease-modifying treatment to those no…

This study looked at 70 adults with sickle cell disease to see which lab test—cystatin C or creatinine—better measures kidney function. Participants gave blood and urine samples and had a special dye test to check how well their kidneys work. The goal is to help doctors catch kid…

This study examined blood samples from 119 adults with sickle cell disease, sickle cell trait, or no condition to understand why some develop dangerous blood clots. Participants gave blood and had health check-ins over two years. The goal was to find biomarkers that could lead to…

This study surveyed 186 adults with sickle cell disease in the U.S. to learn how the COVID-19 pandemic impacted their stress, anxiety, pain, and healthcare use. Participants completed online questionnaires about their medical history, mental health, and experiences during the pan…

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 long donor red blood cells survive in children with sickle cell disease who get regular blood transfusions. Researchers labeled a small part of the transfused blood with a harmless marker and tracked it over time. The goal was to better understand why som…

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 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 completed study monitored pregnancy and infant outcomes in 13 women with sickle cell disease who were treated with the drug crizanlizumab (Adakveo) during pregnancy or shortly before. The goal was to track rates of fetal loss and birth defects. Because it was a small observa…

This study looked at whether a special kidney scan (scintigraphy) can find early kidney damage in children and young adults with sickle cell disease better than standard tests. 18 patients were checked during their annual visit. The goal is to catch kidney problems sooner so trea…

This study tested a new, simpler method to measure iron buildup inside red blood cells of people with beta thalassemia major. The goal was to find a cheaper and easier way to monitor iron overload compared to current tests. Researchers analyzed blood samples from 100 patients to …

This study measured how often iron builds up in the heart muscle of people who receive many blood transfusions. Researchers used MRI scans to check heart iron levels in 110 patients with thalassemia, sickle cell disease, or myelodysplasia. The goal was to understand how common th…

This study followed 94 young people with sickle cell disease as they moved from pediatric to adult medical care. Researchers tracked hospital visits, medication use, and quality of life to find out what makes this transition successful. The goal is to improve programs that help p…

This study asked over 1,000 emergency doctors in Europe what they would prescribe for a patient with sudden belly pain. The patient's race was changed to see if it affected the doctor's choice to give morphine. The goal was to understand if racial bias plays a role in pain manage…

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 collected umbilical cord blood from over 300 newborns with sickle cell disease, sickle cell trait, or no disease to find the best ways to process and store it. The blood is rich in stem cells that might one day be used in treatments like gene therapy or transplants. Th…

This study looked at 1,753 patients needing a stem cell transplant for blood cancers or other serious blood disorders. Researchers compared two strategies: first searching for a matched unrelated donor, then trying an alternative donor if needed, versus going straight to an alter…

This completed phase 1 trial studied how etavopivat, a potential new medicine for sickle cell disease and thalassemia, affects the heart's electrical activity. Thirty-three healthy adults received single doses of etavopivat, a placebo, or an approved heart medication (moxifloxaci…

This completed Phase 1 study tested a single dose of the drug etavopivat in 24 healthy Chinese adults. Researchers measured how much of the drug got into the blood and how long it stayed, as well as any side effects. The goal was to gather basic safety and drug-processing informa…

This study screened 8,400 people living in Chattogram, Bangladesh to find out how common abnormal hemoglobin types are. Researchers used a blood test called HbA1c capillary electrophoresis to detect conditions like HbE trait. The goal was to understand the prevalence of these inh…

This study looked at why people with sickle cell disease often get hard-to-heal leg ulcers. Researchers measured blood flow, nerve function, and blood markers in 70 patients with and without ulcers. The goal was to better understand what causes these wounds, not to test a new tre…

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 study looked at how sickle cell disease affects leg muscles. Researchers compared muscle strength and fatigue in 77 people with and without sickle cell disease during a short exercise. The goal was to learn if muscle problems contribute to poor physical fitness in sickle cel…

This study measured blood vessel function in 49 adults with sickle cell disease to see how it relates to disease severity. Researchers used laser and pulse wave tests to check small and large blood vessels. The goal was to better understand the disease, not to test a new treatmen…

This completed study surveyed 257 adults with sickle cell disease to understand how they use painkillers at home, including opioids and cannabis. Researchers wanted to find out how common opioid addiction is in this group. Patients answered a one-time questionnaire at three speci…

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 study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…

This observational study checked whether children with hepatitis C who also have thalassemia or survived childhood cancer are more likely to develop insulin resistance (a step toward diabetes). Researchers compared 90 infected children to healthy kids of the same age and gender. …

This study collected umbilical cord blood from 44 newborns whose mothers carry the sickle cell trait. The goal was to study the cells in the lab to better understand the disease and develop ways to modify and preserve them. No treatment was given; this was purely for research pur…

This study looked at how a high-fat meal changes the amount of the drug etavopivat in the blood of 16 healthy adults. Participants took a single dose of etavopivat after eating a high-fat meal and on an empty stomach on separate days. The goal is to understand if food affects how…

This completed study looked at how often hemoglobin disorders (like thalassemia and sickle cell disease) occur in people visiting a hospital in Chattogram, Bangladesh. Researchers tested blood samples from 760 volunteers using advanced methods to find different hemoglobin types. …

This completed Phase 1 study in 37 healthy adults tested whether a new drug called etavopivat affects how the body processes five common medicines: digoxin, rosuvastatin, midazolam, pitavastatin, and metformin. Participants took etavopivat daily for 10 days along with single dose…

This study worked to improve how doctors estimate kidney function in people with sickle cell disease. Researchers measured actual kidney function in 120 patients and used that data to develop a new formula tailored to sickle cell. The goal is to replace current equations that wer…

This completed study checked how often inherited blood disorders (hemoglobinopathies) occur in people from Mardan, Pakistan, and nearby areas. Researchers analyzed blood samples from 839 people using special lab tests. The goal was to gather local data to help improve public heal…

This study followed 58 babies with sickle cell disease from 3 months to 2 years old to find early clues that might predict a life-threatening spleen complication called acute splenic sequestration. Researchers took blood samples and used special scans to measure spleen size and f…

This early-phase study tested whether a single injection of plerixafor could safely and effectively mobilize stem cells in 3 adults with severe sickle cell disease who lacked a matched sibling donor. The goal was to see if enough stem cells could be collected for a possible futur…