Autosomal recessive disease

This study looked at whether children with cystic fibrosis (CF) who are taking CFTR modulator drugs and have regained normal pancreatic function can safely stop taking pancreatic enzyme replacement therapy (PERT). Seventeen children were followed for six months after stopping enz…

This study tests whether NPI-001 tablets can safely slow or stop vision loss in people with Usher syndrome, a rare genetic condition that causes blindness and hearing loss. About 49 adults will take either the study drug or a placebo for 24 months. The main goal is to see if the …

This study tested an inhaled drug called RSP-1502, which combines the antibiotic tobramycin with a substance called CaEDTA, in 71 people with cystic fibrosis who have chronic Pseudomonas lung infections. The goal was to check safety and find the right dose. Participants received …

This study tests whether SPI-1005, a drug containing ebselen, can prevent hearing loss in people with cystic fibrosis who are receiving IV tobramycin for a lung infection. About 40 participants will receive either a placebo or one of three doses of SPI-1005 for 21 days. Researche…

This study tested a new medicine called BI 1291583 in 22 adults with cystic fibrosis bronchiectasis, a lung condition that causes coughing and infections. Participants took one tablet daily for 12 weeks, and the study checked if the medicine was safe and well-tolerated. The trial…

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 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 study tests an experimental drug called AT-007 (Govorestat) in 56 adults with SORD deficiency, a rare genetic condition that causes nerve damage and muscle weakness. The drug aims to lower high levels of sorbitol, a sugar that builds up and harms nerves. Researchers will mea…

This study tested a gene therapy called voretigene neparvovec in 4 Japanese patients with a rare inherited eye disease that causes vision loss. The treatment was given as an injection under the retina to replace the faulty gene. The goal was to see if it could safely improve ligh…

This study looked at how safe and effective weekly weight loss injections (like Mounjaro) are for adults with Bardet-Biedl Syndrome (BBS), a rare genetic condition that often causes severe obesity. Researchers compared weight changes in 300 patients who took the medication versus…

This study tested a malaria drug called artesunate in 20 people with Friedreich ataxia, a rare genetic disorder that affects movement and coordination. The goal was to find a safe dose that could help control iron levels in cells, which may slow the disease. Researchers started w…

This study tested a special drink called PKU UP in 16 children with phenylketonuria (PKU) aged 1 to 10 years. The drink is designed to replace some of the protein they need while keeping their phenylalanine levels safe. Researchers checked how well the children tolerated the drin…

This study looked at whether a special medical food called Express Plus is acceptable for children and adults with certain inherited metabolic disorders like PKU and maple syrup urine disease. Over 28 days, 28 participants tried the product and reported how well they liked it, ho…

This study tested whether sildenafil (Revatio), a drug often used for erectile dysfunction, can reduce inflammation in the lungs of people with cystic fibrosis. Thirty-six participants took increasing doses over six weeks. Researchers measured changes in sputum elastase, a marker…

This study tested an oral drug called AZ-3102 in 13 people with GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) or Niemann-Pick type C disease. The main goal was to check safety and how the drug moves through the body over 12 weeks. It was a randomized, double-blind, placebo-c…

This study looked at whether people with phenylketonuria (PKU) can tolerate and stick with a new protein substitute called PKU Sphere. Thirteen participants gradually increased their intake over up to 16 weeks, then continued for 4 more weeks while researchers tracked their blood…

This study tested a new drug called JNT-517 in 14 teenagers with phenylketonuria (PKU). Participants took either JNT-517 or a placebo twice daily for 28 days. The main goal was to check safety and how the drug moves through the body, while also measuring changes in blood phenylal…

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 study tested an oral drug called ADX-629 in 8 people with Sjögren-Larsson syndrome, a rare inherited disorder that causes harmful fatty substances to build up in the skin, brain, and eyes. The main goals were to see if the drug is safe and can reduce these fatty aldehydes. P…

This study tested a single dose of CMTX-101, an antibody designed to break up bacterial biofilms, in 43 adults with cystic fibrosis who have chronic lung infections with Pseudomonas aeruginosa. The goal was to see if adding CMTX-101 to standard inhaled antibiotics is safe and tol…

This early-stage study tested an experimental oral drug called JNT-517 in healthy volunteers and people with phenylketonuria (PKU), a genetic condition that causes harmful buildup of the amino acid phenylalanine. The main goals were to check safety and how the body processes the …

This small study tested whether losartan, a blood pressure medicine, can help clear mucus from the lungs of people with cystic fibrosis who cannot take newer CFTR therapies. Thirteen adults with mild to moderate lung disease took losartan for over 12 weeks. Researchers measured c…

This early-stage study tested a new medicine called ANG003 in 57 adults with cystic fibrosis who have trouble digesting food due to a lack of digestive enzymes. Participants took a single dose of the drug with a meal to see if it was safe and helped with digestion. The goal was t…

This study tested two common IV antibiotics, tobramycin and colistin, in 51 adults with cystic fibrosis to find the safest and most effective way to treat lung infections. Researchers compared a new, less frequent dosing schedule for colistin to standard care, aiming to reduce ki…

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 study followed 125 children aged 6-11 with cystic fibrosis who were prescribed a triple therapy (elexacaftor, tezacaftor, and ivacaftor). Researchers measured changes in sweat chloride, lung function, and weight over 24 months to see how well the treatment works in real life…

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 study tested an experimental drug called vatiquinone in 146 people with Friedreich ataxia, a rare genetic disease that affects movement and coordination. Participants took either the drug or a placebo for 72 weeks to see if it slowed worsening of symptoms, measured by a stan…

This Phase 2 trial tested whether Humira (adalimumab), a drug used for arthritis, can help people with Netherton syndrome, a rare genetic skin condition that causes severe inflammation, itching, and pain. Eleven patients received six injections over three months, followed by thre…

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 study looked at how well the drug Ivacaftor works and how safe it is for people with cystic fibrosis who have a specific genetic change (G551D mutation) in everyday life, not just in a controlled trial. Researchers followed 57 French patients aged 6 and older for one year af…

This study tested an experimental pill called brensocatib in 29 adults with cystic fibrosis. The main goals were to see how the drug behaves in the body and whether it is safe compared to a placebo over 4 weeks. Participants took the pill once daily, and researchers measured drug…

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 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 study looked at the long-term safety and effectiveness of the triple-combination drug Trikafta (elexacaftor/tezacaftor/ivacaftor) in 71 children aged 2 and older with cystic fibrosis. All participants had previously taken the drug in an earlier study. Researchers tracked sid…

This study tested an engineered probiotic called CBT102-A in 15 children with phenylketonuria (PKU), a condition where the body cannot break down an amino acid called phenylalanine. The children took the probiotic or a placebo for 20 days. The goal was to see if the probiotic cou…

This completed trial tested whether PKU GOLIKE, a special food for managing PKU, works better than standard amino acid protein substitutes at controlling blood phenylalanine levels. Sixteen children with PKU, aged 5 to 16, took part in a crossover study where they tried both prod…

This study tested a special stent graft (E-liac) to treat bulges in the iliac artery (aneurysms) without open surgery. 71 patients received the device, sometimes combined with other aortic grafts. The main goal was to prevent aneurysm rupture and death. Researchers tracked succes…

This study tested a two-week course of antibiotics (TMP/SMX or minocycline) given twice to people with cystic fibrosis who had early MRSA lung infections. The goal was to see if this approach could clear the bacteria better than standard care. The trial included 37 participants a…

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 early-stage trial tested an inhaled drug called MRT5005 in 42 adults with cystic fibrosis. The goal was to check safety and see if it could improve lung function. Participants received either the drug or a placebo by nebulizer. The study is completed, and results will help d…

This study tested a drug called RTA 408 (omaveloxolone) in 172 people with Friedreich's ataxia, a rare genetic disease that affects movement and coordination. The goal was to see if the drug is safe and can improve exercise ability and daily function. Participants took the drug o…

This pilot study tested the drug semaglutide (a GLP-1 receptor agonist, like Ozempic) in 8 overweight or obese adults with cystic fibrosis-related diabetes who were already using insulin. The goal was to see if adding semaglutide could safely help with weight loss and improve blo…

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 early-phase study tested a drug called adrabetadex (VTS-270) given through a vein to treat liver disease in infants with Niemann-Pick disease type C, a rare and fatal genetic disorder. Four babies up to 6 months old received multiple doses to see if the drug could lower abno…

This study looked at whether adding an inhaled medication called Bronchitol (mannitol) can further improve mucus clearance in people with cystic fibrosis who have moderate to severe lung disease and are already taking a triple-combination drug (elexacaftor/tezacaftor/ivacaftor). …

This phase 2 trial tested baricitinib (Olumiant), a drug used for rheumatoid arthritis, in 54 people with Aicardi Goutières Syndrome (AGS), a rare genetic disorder that causes brain inflammation and developmental problems. The goal was to see if the drug could stabilize or improv…

This study tested a program that combines small loans and group support to help people with HIV in Kenya. The goal was to improve HIV medication adherence, mental health, and family relationships. 843 people took part, and the program aimed to reduce depression, anxiety, and PTSD…

This study tested a single dose of a special virus mixture (bacteriophages) given through a vein to adults with cystic fibrosis who have a chronic lung infection with Pseudomonas bacteria. The goal was to see if the treatment is safe and can reduce the amount of bacteria in the l…

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 early study tested a cream called SXR1096 on 9 people with Netherton syndrome, a rare inflammatory skin disease. The cream aims to block certain enzymes that cause skin problems. Participants applied the cream and a placebo to different skin areas for one month to check safe…

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 followed 852 cystic fibrosis patients aged 12 and older who started taking Orkambi outside of a clinical trial. Researchers tracked how many stopped treatment, why, and measured lung function and nutrition over one year. The goal was to see how the drug performs in rea…

This study tested a new microtablet supplement called PKU EASY Microtabs Plus in 10 people with PKU aged 3 and older. The supplement is a slow-release protein substitute designed to help manage PKU. Over one week, researchers checked how well participants tolerated it (stomach is…

This study tested an inhaled drug called ETD001 in 57 adults with cystic fibrosis. The trial had two parts: one to check safety over 7 days, and another to see if the drug improves lung function over 28 days. Participants took the drug or a placebo twice daily. The goal is to fin…

This study tested a special medical food called PKU explore in 7 infants with phenylketonuria (PKU) aged 6 months to 3 years. The goal was to see if babies would accept the product, tolerate it well, and maintain healthy phenylalanine levels and growth. The food replaced or suppl…

This study tested a triple-drug combination (dirocaftor/posenacaftor/nesolicaftor) in 41 adults with cystic fibrosis who have rare CFTR gene mutations not covered by existing treatments. Participants were chosen based on lab tests using their own intestinal organoids to predict w…

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 tested whether miglustat, a drug that blocks certain sugar processing, can improve salt movement in the noses of adults with cystic fibrosis who have the F508del gene mutation. Sixteen participants took miglustat for two weeks and a placebo for two weeks, with a washou…

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 study tested a triple-combination drug (elexacaftor/tezacaftor/ivacaftor) in 70 toddlers aged 12 to 24 months with cystic fibrosis. The goal was to check how the drug moves through the body, its safety, and any side effects. The trial has finished, and results will help dete…

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 study tested a combination drug (elexacaftor/tezacaftor/ivacaftor) in 82 people with cystic fibrosis aged 12 and older. Researchers used wearable devices to measure how much the drug reduced coughing and increased physical activity over 12 weeks. The goal was to see if the t…

This phase 3 study tested the long-term safety and effectiveness of the drug combination elexacaftor/tezacaftor/ivacaftor (Trikafta) in 507 people with cystic fibrosis who have the F508del mutation. Participants had already completed a previous study and continued taking the medi…

This study tested a combination of two oral drugs, VX-661 and ivacaftor, in 40 adults with cystic fibrosis who have a specific genetic mutation (F508del). The goal was to see if the drugs are safe and can improve lung function over 12 weeks. Participants were randomly assigned to…

This study tested a special hearing device called an auditory brainstem implant in 10 children aged 2 to 5 who are profoundly deaf due to missing or damaged inner ear parts. Unlike a cochlear implant, this device is placed directly on the brainstem during surgery. The main goal w…

This study tested the drug Trikafta in 42 people with cystic fibrosis who have rare genetic mutations not currently approved for this treatment. Participants took Trikafta for about four weeks, and researchers measured lung function and sweat chloride levels. They also used skin …

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 small pilot study tested whether drugs normally used for HIV could help children with Aicardi-Goutières syndrome (AGS), a rare genetic disorder that causes severe brain inflammation. The trial gave 11 children a combination of three reverse transcriptase inhibitors to see if…

This study tested a combination of two immune-targeting drugs, secukinumab and dupilumab, in 15 children with severe Netherton syndrome, a rare genetic skin disorder. The goal was to see if the treatment could improve survival and control the disease. The children received weight…

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 way to diagnose cystic fibrosis in unborn babies using a simple blood sample from the mother. Instead of using a needle to take fluid from around the baby, researchers used advanced DNA sequencing to read the baby's genes from tiny bits of fetal DNA floati…

This study looked at whether a simple saliva test could help doctors quickly assess the current health status of people with cystic fibrosis. Researchers measured markers of inflammation in saliva from 273 participants aged 6 and older. The goal was to develop a point-of-care dia…

This study compared two imaging methods—ultra-low-dose CT and lung MRI—for assessing lung damage in adults with cystic fibrosis. Researchers wanted to see if MRI could provide similar information to standard CT but without radiation. The study involved 185 participants and used t…

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 tested whether ultrasound of the nerves can help diagnose CANVAS, a rare genetic disorder that causes balance problems, nerve damage, and dizziness. Researchers measured nerve size in 35 people with confirmed CANVAS and compared them to healthy individuals. The goal wa…

This study tested whether a noninvasive device called FibroScan can accurately measure liver scarring (fibrosis) in children, potentially replacing the need for a liver biopsy. Researchers compared FibroScan results with biopsy results in 264 children aged 6 months to 18 years wi…

This study tested a new device called PheCheck that measures phenylalanine levels from a fingerstick blood sample, intended for home use by people with PKU. Researchers compared its accuracy to the standard lab test in 30 participants aged 10 and older. The goal was to see if the…

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 the H1N1 flu vaccine in 439 people with cystic fibrosis to see if it prevents the flu and is safe. Participants included adults, children, pregnant women, and lung transplant recipients. Researchers measured immune response and tracked flu symptoms, using antivi…

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 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 whether a daily probiotic called Weizmannia coagulans BC99 can improve symptoms of chronic constipation in adults. One hundred participants took either the probiotic or a placebo for a period, and researchers measured changes in stool consistency and gut bacteri…

This study tested an online group therapy program designed for adults with cystic fibrosis (CF) to help reduce depression, anxiety, and stress. Twenty-one participants completed questionnaires before and after the 8-week program, and some shared their experiences in interviews. T…

This study tested whether wearing a Fitbit activity tracker can help adults with cystic fibrosis exercise more regularly and improve their exercise tolerance over one year. Forty participants were enrolled and followed for 12 months. The goal was to see if a simple wearable devic…

This study tested a program designed to help children aged 8-12 with cystic fibrosis and their mothers build life skills and psychological resilience. The program included activities like laughter yoga and aimed to improve emotional well-being, quality of life, and lung function.…

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 a device called Simeox, which helps clear mucus from the lungs, against a standard manual breathing technique (autogenic drainage) in 31 adults with cystic fibrosis. The goal was to see which method better improves lung function and eases symptoms like cough and…

This study looked at whether taking an NAD+ precursor (a vitamin-like supplement) along with exercise training can improve aerobic capacity (how well the body uses oxygen during exercise) in people with Friedreich's ataxia. The trial included 75 participants aged 10 to 40. Resear…

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 study tested a new ventilator mode called NAVA for people with chronic obstructive pulmonary disease (COPD) who need a breathing machine. NAVA uses the patient's own diaphragm signals to control the machine, aiming to improve comfort and reduce time on the ventilator. The st…

This study tested whether a video-based exercise program is practical and acceptable for adults with cystic fibrosis after a flare-up. Nine clinically stable patients participated. The goal was to see if patients would join and stick with the program, not to measure health outcom…

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 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 whether starting a structured exercise program combined with behavioral counseling during a hospital stay for cystic fibrosis (CF) is feasible. Three adults with CF who were hospitalized for a lung flare-up took part. The goal was to see if this approach could h…

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 a new 3-session mind-body pain management program called PACE CF for adults with cystic fibrosis (CF). The program was delivered via telehealth and aimed to help people cope with pain without medication. Researchers wanted to see if the program was acceptable an…

This pilot study tested the drug elamipretide in 20 people with Friedreich ataxia to see if it could safely improve vision loss. Participants received either a low or high dose, and researchers measured changes in eyesight. The study is complete, but results are not yet available…

This study tested whether a 12-week virtual reality exercise program done at home could improve exercise capacity in children with cystic fibrosis. 36 kids aged 12-16 were split into two groups: one used VR headsets for team activities, the other did standard online exercises. Th…

This study tested whether sophrology, a relaxation method, could help people with cystic fibrosis who have chronic pain. Thirteen patients received sophrology sessions at home in addition to their usual care. The goal was to see if this approach could reduce pain intensity and th…

This study tested whether a voice journaling app called Kintsugi is easy and acceptable for teens with cystic fibrosis to use. Twenty teens aged 14-18 with a history of anxiety or depression tried the app for three months. The goal was to see if it could help improve their emotio…

This study tested whether 12 weeks of respiratory strength training could improve breathing and swallowing in a person with Friedreich's ataxia. The participant did breathing exercises against resistance and had tests before and after the training. Because only one person took pa…

This study tested a new program called 'Improving Life with CF' at five cystic fibrosis (CF) centers. The program helps doctors regularly check in on patients' symptoms and quality of life, and provides guides for managing common problems. Over 600 people with CF took part to see…

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 a new device called Simeox, which helps clear mucus from the lungs, in 40 children with cystic fibrosis aged 8 to 18. Each child used the device for one month and standard chest physiotherapy for another month, in random order. The goal was to see if the device …

This study looked at 27 children aged 6 to 11 with cystic fibrosis who were starting treatment with CFTR modulators (Kaftrio). The goal was to see if the drug improves nose and sinus symptoms and quality of life after one year. Researchers used a special questionnaire called SN-5…

This study tested a wearable vest called ELECTROVEST that vibrates and gently stimulates muscles to help clear mucus from the lungs. It included 21 adults with COPD, cystic fibrosis, bronchiectasis, or asthma. The vest was compared to a standard chest-vibration device to see if i…

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 small study tested whether a telerehabilitation program could help children and teens with cystic fibrosis exercise more at home. Ten participants used an online exercise program while wearing activity trackers. The goal was to see if this approach could improve their daily …

This phase 3 trial tested whether the drug N-acetylcysteine (NAC) can thin mucus and make it easier to cough up in adults with respiratory infections like bronchitis or bronchiectasis. About 333 hospitalized patients in China received either NAC, another expectorant (ambroxol), o…

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 study looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…

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 explores whether analyzing the chemicals in exhaled breath can detect early changes in children with cystic fibrosis who start taking a medication called Kaftrio. Researchers will collect breath samples from 50 children under 12 before and after they begin treatment, l…

This study looked at different ways to collect sputum (phlegm) from people with a lung infection called nontuberculous mycobacterial (NTM) infection. The goal was to see which method gives the best samples for diagnosing and understanding the infection. Participants provided thro…

This study tests whether wearable sensors and digital home tasks can track changes in movement, speech, and falls in people with ALS. About 20 participants will wear neck and wrist sensors and complete speech and handwriting tests over 48 weeks. The goal is to see if these digita…

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 study looked at people with three rare genetic conditions—xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD)—that affect the body's ability to repair DNA. Researchers examined 709 participants to understand how these defects relate to cancer ri…

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 investigates why people develop obstructive sleep apnea (OSA) and whether the underlying cause affects how they respond to different treatments. Researchers will test three approaches—CPAP, a sleep medication (eszopiclone), and supplemental oxygen—in adults with OSA. T…

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 completed study looked at the natural course of two ultra-rare genetic disorders: GACI and ARHR2. Researchers collected medical records and blood samples from 48 affected individuals and their family members. The goal was to better understand how these diseases progress over…

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 completed study looked at people with genetic conditions that affect how the lungs clear mucus, such as cystic fibrosis and primary ciliary dyskinesia. Researchers examined 87 participants, including healthy volunteers, to understand why these patients get repeated lung infe…

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 investigates whether tiny molecules in the blood, called miRNAs, can act as markers of lung disease in people with cystic fibrosis. Researchers will compare miRNA patterns between cystic fibrosis patients and healthy volunteers, and also between patients with mild vers…

This study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …

This study looked at 120 people with Friedreich's ataxia, a rare genetic disease that causes progressive movement problems. Researchers examined tiny interruptions in the DNA expansion that causes the disease to see if they influence when symptoms start and how severe they become…

This completed study looked at inherited disorders common in Amish and Mennonite populations. Researchers collected medical histories, blood or cheek swab samples from 157 participants to find the genes behind these conditions. They also built a computer database of family trees …

This study followed 12 adults with PKU to see how their nutrition changed before and during treatment with pegvaliase (Palynziq). Researchers measured protein intake, body composition, bone density, and vitamin levels over 15 months. The goal was to understand if the drug affects…

This completed study followed 5 people with cystic fibrosis over two years to track COVID-19 antibodies from infection or vaccination. Researchers collected blood samples every six months to see how antibodies develop and last. The goal was to understand if people with CF have di…

This study involved 8 children and teens with cystic fibrosis who had a history of MRSA infection and were already receiving the antibiotic ceftaroline. Researchers measured drug levels in the blood at different times to see how well the current dosing worked. The goal was to gat…

This study collected leftover tissue, fluid, and bacteria from 400 cystic fibrosis patients after their routine medical tests. Researchers will use these samples to study lung diseases and explore new treatments. No genetic testing was done on the samples.

This study followed 220 adults with phenylketonuria (PKU) in France to learn how the disease affects them later in life. Researchers looked for signs of cognitive decline, neurological problems, and how the disease impacts quality of life and social integration. No new treatment …

This study tested whether a single 30-40 minute online education program could improve health literacy in 104 school-age children with cystic fibrosis and their parents. Half the families received the program, while the other half did not. Researchers measured health literacy lev…

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 tested whether a mobile app can reliably measure muscle fatigue in people with cystic fibrosis (CF). Researchers compared 100 participants with CF to healthy controls using a chair-rising test captured by the app. The goal was to see if the app could detect differences…

This completed study looked at how health literacy (understanding health information) relates to physical activity, anxiety, depression, and how well adults with cystic fibrosis follow their airway clearance routines. Researchers enrolled 62 adults aged 18-65 and used questionnai…

This study looked at how the antibiotic omadacycline moves through the bodies of 9 adults with cystic fibrosis. Participants received the drug by mouth and through an IV to measure levels in the blood. The goal was to understand dosing, not to treat the disease.

This study looked at how people who carry the gene for PKU (but don't have the disease) handle a substance called phenylalanine, found in many foods. 56 adults, both carriers and non-carriers, took a phenylalanine drink and had their thinking, mood, blood pressure, and body chemi…

This completed study collected blood and urine samples from 240 people with ciliopathies—rare genetic disorders that often lead to kidney failure. Researchers analyzed these samples to find biological markers that could predict how the disease will progress. The goal is to develo…

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 small pilot study tested whether a breathing device called the Volara System could help adults with cystic fibrosis produce sputum (mucus from the lungs) for lab testing. The study included 20 people who had not been able to produce a sputum sample in the past year. Particip…

This completed study followed 360 adults and children with chronic respiratory and other medical conditions to see how their immune systems responded to COVID-19 vaccines over 18 months. Researchers measured antibody, T cell, and B cell levels before vaccination and every 3 month…

This study followed 29 adults with cystic fibrosis who were hospitalized for a lung infection. Researchers collected blood, sputum, and urine samples to study how the body's immune response and bacteria affect recovery. The goal is to understand why some patients' lung function d…

This study followed 58 adults with cystic fibrosis who were starting or switching to newer CFTR modulator drugs as part of their regular care. Researchers collected blood, sputum, urine, and quality-of-life surveys before and after treatment to see how inflammation, lung bacteria…

This study looked at sputum from 83 adults with cystic fibrosis during lung flare-ups to find genetic markers of antibiotic-resistant bacteria. Researchers compared these markers to standard lab tests and tracked how well patients responded to treatment. The goal is to develop fa…

This study looked at whether a blood test can measure beta cell death in people with cystic fibrosis, which may help predict diabetes. About 40 participants with cystic fibrosis and healthy controls gave blood samples to check for a specific DNA marker. The goal was to understand…

This study looked at 72 adults with cystic fibrosis to see if chemical changes in DNA, called methylation, are linked to how well their lungs work. The goal was to understand why lung disease gets worse at different rates in different people. No treatment was given; instead, rese…

This study looked at whether a non-invasive breathing test called the lung clearance index (LCI) can detect early lung disease in young children with cystic fibrosis. Researchers tested 53 children aged 3 to 6 years and compared the results with CT scans and other lung function t…

This completed Phase 1 study tested how a cystic fibrosis drug combo (vanzacaftor/tezacaftor/deutivacaftor) affects the body's processing of the statin rosuvastatin. 18 healthy adults took both medications to check for interactions and safety. The goal was to see if the drug comb…

This study aims to find DNA markers (epigenetic biomarkers) in sputum that can predict how severe lung disease will become in people with cystic fibrosis. Researchers will collect sputum samples from 50 participants aged 12 to 30 over 18 months and analyze changes in DNA methylat…

This study looked at how the lungs move chloride, sodium, and bicarbonate in 42 patients with idiopathic bronchiectasis (widened airways of unknown cause). Researchers measured electrical signals in the airway lining during bronchoscopy and took nasal and bronchial samples. The g…

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 pilot study explored whether people with Friedreich's ataxia (FA) have problems making certain hormones, like cortisol and testosterone. Researchers measured hormone levels in blood samples from 11 FA patients and 15 healthy volunteers. The goal was to better understand how …

This completed study looked at how common depression and anxiety are in teenagers with cystic fibrosis and their parents. Researchers used questionnaires during routine clinic visits to screen for symptoms. The goal was to better understand mental health needs in this group.

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 study looked at whether a test using cells from the nose can predict if the drug Orkambi® will improve lung function in people with cystic fibrosis. Researchers collected nasal cells from 91 participants before they started Orkambi® and measured how well the drug fixed the c…

This study tested whether weekly community-led group discussions could improve trust and openness to COVID-19 testing and vaccination. Fifty-seven adults from nine housing agencies took part in online meetings and completed surveys over six months. The goal was to see if peer-led…

This study tested whether weekly community-led group discussions about health topics could change how people feel about COVID-19 testing and vaccines. 49 adults from housing authority agencies took part in Zoom meetings and completed surveys over 18 weeks. The goal was to see if …

This study followed 75 people with cystic fibrosis (CF) for two years to see how many developed COVID-19 antibodies from infection or vaccination. Researchers wanted to know if CF patients are naturally protected or just avoiding the virus. The study collected blood samples and h…

This study looked at whether people with cystic fibrosis (CF) have COVID-19 antibodies in their blood over two years. Researchers wanted to see if CF patients get infected less often or have milder symptoms. About 331 children and adults with CF from Europe gave blood samples and…

This study looked at how bacteria travel through the nose, mouth, and lungs in infants with cystic fibrosis. Researchers collected swabs and mucus samples from 7 babies over their first year of life. By analyzing the bacterial communities at each site, they hope to understand how…

This completed study gave 22 healthy men a single dose of semaglutide (Rybelsus) or a placebo pill to see how it affects cortisol and other stress hormones. The goal was not to treat any disease, but to learn more about how GLP-1 drugs interact with the body's stress system. Part…

This completed study looked at 150 children with severe to profound hearing loss to find how many have a specific genetic form called DFNB9. Researchers collected medical and genetic data from routine care. The goal was to better understand this condition and pave the way for fut…

This study followed 52 people with limb-girdle muscular dystrophy 2I (LGMD2I) for up to two years to learn more about how the disease changes over time. Researchers measured walking ability, muscle strength, heart function, and daily activities. The goal was to better understand …

This study collected sputum (mucus coughed up from the lungs) from healthy volunteers and people with cystic fibrosis. Researchers tested whether certain sugar-like compounds could block bacterial and fungal proteins from binding to mucus, and whether these compounds could make t…

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 completed study looked at 88 children with cystic fibrosis (CF) or primary ciliary dyskinesia (PCD) to compare how well they can exercise, how their muscles use oxygen, and how strong their breathing muscles are. Researchers used walking tests and muscle oxygen monitors to m…

This study looked at whether people with cystic fibrosis (CF) have COVID-19 antibodies from infection or vaccination. Researchers followed 152 adults and children with CF for two years, taking blood samples every six months. They aimed to understand how many had antibodies, how l…

This study looked at 27 adults with a below-knee amputation who use a prosthesis. Researchers measured how satisfied they were with their prosthetic, how they felt about their body image, and how well they could do daily activities and participate in social life. The goal was to …

This study followed 113 people with cystic fibrosis (CF) over two years to see how many developed antibodies against COVID-19, either from infection or vaccination. Researchers collected blood samples and health data to understand if CF patients have a lower infection rate and ho…

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 study looked at 10 adults with Friedreich's ataxia to find a way to measure frataxin mRNA in blood and spinal fluid. The goal was to create a tool that can tell if treatments are working to increase frataxin levels in the brain. Researchers used tiny particles called exosome…

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 compared muscle endurance in 48 children with cystic fibrosis (CF) and healthy children aged 6-18. Researchers measured core, respiratory, and leg muscle endurance to see if CF affects these abilities. The goal was to gather knowledge about physical differences, not to…

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 study looked at 44 couples where one or both partners have polycystic kidney disease (PKD). They used IVF combined with genetic testing to select embryos without the disease. The goal was to see how often these treatments led to a healthy pregnancy and live birth, and to tra…

This study looked at tiny molecules in the blood called miRNAs to see if they could help doctors tell apart two similar conditions in boys: undescended testicles (which need surgery) and retractile testicles (which usually get better on their own). Researchers took blood samples …

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 study followed 79 infants with cystic fibrosis during their first year of life to see how well their pancreas works over time. Researchers measured a substance called fecal elastase-1 in stool samples to track pancreatic function. The goal was to learn more about t…

This study looked at how the drug Palynziq, which lowers phenylalanine levels in the blood, affects the brain and thinking abilities in adults with phenylketonuria (PKU). Six participants who were already taking Palynziq underwent brain scans and cognitive tests to measure change…

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 40 adults—some with phenylketonuria (PKU) and some healthy—to see if PKU causes low-level inflammation in the body. Researchers measured inflammatory markers in blood samples. The goal was to better understand how PKU affects overall health, not to test a new…

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 65 people with cystinosis to see how well they take their cysteamine medicine and how that relates to brain problems. Researchers measured medicine use with special bottle caps and diaries, and checked for cystine buildup in the brain using scans and spinal t…

This study looked at whether showing health warning messages in a mobile app where people buy alcohol affects their purchasing. Over 11,700 adults in Sweden took part. One group saw rotating health warnings, while the other saw standard messages. The researchers tracked purchases…

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 study looked at Netherton syndrome, a rare genetic skin condition, to better understand how it affects the body and immune system. Researchers studied 18 people with the disease, measuring immune markers in the blood and tracking skin changes. The goal was to find new target…

This study looked at 10 people with rare genetic conditions that cause very low cholesterol and trouble absorbing vitamins. Researchers measured a protective pigment in the eye called macular pigment, which may be low in these patients and could explain why some still develop vis…

This completed study followed 12 women with PKU who chose to use PKU Sphere, a special low-protein medical food, before and during pregnancy. Researchers tracked their blood amino acid levels, diet adherence, and pregnancy outcomes. The goal was to see if the product helps mainta…

This study tested a smartphone app called MuCopilot that helps people with cystic fibrosis measure their lung function and exercise ability at home. 70 adults in France used the app to perform tests like speaking into the phone and timed walks, and researchers compared those resu…

This study looks at whether a simple 6-minute walk test can help predict how long cystic fibrosis patients will survive without needing a lung transplant. Researchers followed 291 adults with advanced cystic fibrosis, measuring how far they walked and their oxygen levels. The goa…

This study followed 150 people with a confirmed genetic form of nephronophthisis, a rare kidney disease, to see how it progresses over the long term. Researchers tracked both kidney function and damage to other organs. The goal was to better understand the disease's natural histo…

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 study tested a new self-administered questionnaire called DYSLIM to measure shortness of breath and its impact on daily life in people with chronic respiratory diseases like COPD, cystic fibrosis, and pulmonary hypertension. Researchers enrolled 199 participants to check if …

This study compared four non-invasive methods—FibroTest, Fibroscan, ShearWave Elastography, and Magnetic Resonance Elastography—to measure liver fibrosis in 56 children with cystic fibrosis aged 6-18. The goal was to see which test best detects early liver damage, helping doctors…

This study aimed to find risk factors for osteoporosis in people with cystic fibrosis. Researchers took blood samples to study monocytes, which can turn into osteoclasts—cells that break down bone. They also tested how CFTR modulators affect these bone cells. The study included 2…

This study talked to 27 children (ages 6 and up) who have a parent with cystic fibrosis. Through interviews and small group discussions led by a psychologist, researchers aimed to understand their feelings, worries, and needs. The goal is to use this information to create better …

This study looks at why some adults with cystic fibrosis are more physically active than others, focusing on factors outside the lungs like nutrition, diabetes, bone health, and mood. Eighty stable adults will wear an activity monitor for a week and complete questionnaires. The g…

This study looked at what cystic fibrosis (CF) patients and their spouses think and feel about becoming parents. Researchers held small group discussions and one-on-one interviews led by a psychologist to gather their views. The goal was to identify common themes and needs, so be…

This study looked at whether low vitamin D levels in the first trimester of pregnancy are linked to developing preeclampsia later on. Researchers measured vitamin D in over 3,000 pregnant women in France. The goal was to understand how common vitamin D deficiency is and if it rel…

This study followed 19 teens and young adults with cystic fibrosis to see how starting the drug ORKAMBI changed their anxiety, depression, quality of life, and how well they stuck to their treatments. Researchers compared those taking ORKAMBI to a similar group not on the drug. T…

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 tested whether electrical impedance tomography (EIT), a non-invasive imaging technique, can detect lung damage in children and young adults with cystic fibrosis (CF). Researchers compared EIT results to CT scans to see if it can identify air trapping and other lung cha…

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

This study examined lungs removed from 74 people with cystic fibrosis during transplant. Researchers looked at how bacteria and chemicals differ across various parts of the lung. The goal is to better understand why infections persist and how to target treatments more precisely.

This study followed 1200 people with Friedreich's ataxia over time to learn how the disease progresses. Researchers collected health exams and lab results to create a natural history of the condition. The goal was to develop better tools for future clinical trials and improve pat…

This study aims to create new methods to measure how well the gut digests and absorbs fats, proteins, and sugars in people with cystic fibrosis (CF). Poor digestion is a major cause of malnutrition in CF, leading to muscle weakness and worse health. The researchers will test thes…

This study tested a new granule (powder) version of three cystic fibrosis drugs (vanzacaftor, tezacaftor, and deutivacaftor) in 34 healthy adults. The goal was to see how well the body absorbs the granule form, whether food changes absorption, and if different doses work as expec…

This completed study tracked 87 patients who received Luxturna gene therapy for a rare inherited eye condition that causes blindness. Researchers monitored side effects and pregnancy outcomes for up to 5 years after treatment. The goal was to gather real-world safety data, not to…

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 at Mount Sinai measured brain waves and other body signals in 50 healthy volunteers during a standard hypnosis session. The goal was to collect data to train an artificial intelligence tool that can recognize when a person is calm or in a trance. Future resea…

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 looked at how common human papillomavirus (HPV) infection and abnormal cervical cells are in women with cystic fibrosis (CF). Researchers tested 85 women using Pap smears and HPV DNA tests. The goal was to understand infection rates and how long the virus lasts, so doc…

This study looked at blood neutrophils (a type of immune cell) in 47 adults with cystic fibrosis. Researchers compared these cells between patients and healthy donors, and also examined how chronic infection, CFTR modulator drugs, and lung flare-ups affect neutrophil behavior. Th…

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 completed study looked at how well children with cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) can use their arms for exercise, how their muscles use oxygen, and their balance. Researchers compared 88 children aged 6-18 with CF, PCD, and healthy peers. The goal w…

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…

This study followed 230 people with cystic fibrosis to understand why some develop diabetes and why it sometimes reverses. Researchers tracked genetics, lung health, infections, diet, and physical activity over a year. The goal is to improve how diabetes is screened and treated i…