Autosomal genetic disease

This trial tests a gene therapy called YOLT-204 in people aged 14 to 35 with sickle cell disease or transfusion-dependent thalassemia. The goal is to see if a single intravenous dose can safely boost fetal hemoglobin levels, potentially reducing or eliminating the need for blood …

This phase 3 trial tests whether an experimental drug called KP-100IT, injected into the spinal fluid, can help people with severe acute spinal cord injuries regain function. Participants, aged 18 to 89 with a complete loss of motor and sensory function (AIS grade A), receive fiv…

This pilot trial tests a gene-editing approach for sickle cell disease. Participants receive their own blood stem cells that have been edited to increase fetal hemoglobin, a healthy type of hemoglobin that prevents sickling. The goal is to cure the disease with a one-time treatme…

This study will test whether a nutrition supplement with different forms of certain nutrients works better than standard supplements for adults with cystic fibrosis. Sixty participants will take the supplement for six weeks, and researchers will measure nutrient levels in their b…

Researchers are testing whether trametinib, an FDA-approved cancer drug, can help infants with RASopathies who have a severe, life-threatening heart condition called hypertrophic cardiomyopathy. The trial enrolls about 25 babies with a confirmed genetic diagnosis. Participants re…

This phase 2 trial tests the safety of belzutifan, a daily oral tablet, in adolescents with rare solid tumors that cannot be surgically removed or have spread. The study includes three tumor types: pheochromocytoma/paraganglioma (PPGL), wild-type gastrointestinal stromal tumors (…

Researchers are testing whether a tablet form of the experimental cystic fibrosis drug VX-581 gets into the bloodstream as well as the liquid form. Sixteen healthy adults will take both forms in a randomized order, and researchers will measure drug levels in their blood over time…

This early-phase trial tests a single injection of a gene therapy called GS1168 in 9 adults with PKU whose condition is not well controlled by diet or other treatments. The therapy uses a harmless virus to deliver a working copy of the PAH gene, which is faulty in PKU, to help th…

This study tests the drug upadacitinib (Rinvoq) in 30 people with rare genetic disorders that overactivate the JAK-STAT immune pathway. The trial has four phases over 12 months, including an open-label phase to find the best dose and a randomized withdrawal phase to compare the d…

This trial tests an experimental oral drug called DES-1357 in adults with metastatic colorectal cancer that has specific genetic features (dMMR or MSI-H). The study runs in three parts: first, to find a safe dose; second, to check tolerability and early signs of tumor shrinkage; …

This trial tests the long-term safety of an experimental medicine called ultevursen, given as an injection into the eye, for people with retinitis pigmentosa caused by mutations in a gene called USH2A. The study enrolls about 81 adults and children who completed a previous 24-mon…

This trial tests a non-invasive brain stimulation technique called transcranial temporal interference stimulation (tTIS) in people with spinocerebellar ataxia type 3, a genetic condition that affects coordination and balance. The stimulation targets a deep brain region involved i…

This trial investigates whether specially engineered T cells can safely target and fight lung cancer. Participants have advanced or relapsed lung cancer and receive a single infusion of their own T cells that have been trained to recognize cancer-specific markers. The study aims …

This study tests whether red blood cells processed to be low in oxygen (hypoxic) last longer in the body than standard cells for people with sickle cell anemia who need regular transfusions. About 48 participants aged 7 and older will receive both types of blood in a crossover de…

This phase 2 trial is investigating whether adding a ketogenic diet and/or high-dose intravenous vitamin C to standard chemoradiotherapy and immunotherapy can improve outcomes for patients with locally advanced rectal cancer that is mismatch repair proficient (pMMR/MSS). The stud…

This Phase 3 trial tests whether vatiquinone can slow the progression of Friedreich's ataxia, a rare genetic disorder that damages the nervous system and impairs movement. About 120 adults with moderate symptoms will take the drug for 24 months. Researchers will measure changes i…

This trial tests whether deep brain stimulation (DBS) targeting the cerebellum is safe and feasible for people with spinocerebellar ataxia types 1 and 3, a group of inherited disorders that cause progressive problems with movement and coordination. The study will enroll 12 adults…

This trial compares a new gene therapy to standard care in people aged 12 to 35 with severe sickle cell disease. The gene therapy uses a patient's own blood stem cells, modified to produce a therapeutic form of hemoglobin and reduce the sickling hemoglobin. The study measures how…

This trial investigates whether a sensitive blood test (Signatera) can detect when it is safe to pause immunotherapy in people with advanced solid tumors like lung cancer, melanoma, and colorectal cancer. Participants are randomly assigned to either continuous standard immunother…

This phase 2 trial is testing whether the combination of avutometinib and defactinib can stop or shrink malignant peripheral nerve sheath tumors (MPNST) that have returned or cannot be removed with surgery. The study enrolls people over 12 years old with relapsed, refractory, met…

This trial investigates whether eating purple-fleshed potatoes daily for four weeks can improve blood pressure and other heart health markers in men with prehypertension. Participants will consume either purple or white potato puree in a crossover design, with measurements taken …

This trial tests whether a special vibrating vest, worn around the chest, can improve lung function in children aged 6 to 12 with non-cystic fibrosis bronchiectasis — a condition where the airways are permanently widened and clogged with mucus. The vest shakes the chest at high f…

This trial tests whether a procedure called pulsed field ablation can safely treat ventricular arrhythmias—abnormal heart rhythms that can be life-threatening. About 30 people with frequent premature heartbeats or ventricular tachycardia will receive the treatment using a special…

This trial investigates whether continuous positive airway pressure (CPAP) can help adults with sickle cell disease recover faster from acute chest syndrome, a serious lung complication. Participants who need extra oxygen are randomly assigned to receive either standard oxygen al…

This study tests whether bempedoic acid, a drug already approved for high cholesterol, can safely slow the progression of autosomal dominant polycystic kidney disease (ADPKD). About 120 adults with rapidly progressing ADPKD will receive either the drug or a placebo for two years.…

This trial tests several drugs in people with NF2-related schwannomatosis, a condition that causes tumors on nerves and in the brain. The study uses a flexible 'platform' design to evaluate treatments for four tumor types: vestibular schwannomas, non-vestibular schwannomas, menin…

This phase 3 trial tests whether an experimental drug called NPI-001 can slow the loss of light-sensing cells in the eyes of adults with Usher syndrome, a genetic condition that causes both hearing and vision loss. About 80 participants take either NPI-001 or a placebo twice dail…

This trial tests the drug selumetinib in people with NF2-related schwannomatosis, a genetic condition that causes non-cancerous tumors on nerves, often leading to hearing loss. The study includes both adults and children whose tumors cannot be surgically removed or are growing. R…

This trial tests whether combining two drugs—luvometinib (a targeted therapy) and serplulimab (an immunotherapy)—can shrink tumors and improve hearing in people with NF2-related schwannomatosis. Participants have progressive vestibular schwannomas or meningiomas that are not suit…

This trial investigates whether children and teens with cystic fibrosis who are already taking highly effective modulator therapy can safely use inhaled airway clearance treatments only when they have a respiratory illness, instead of every day. Participants stop their usual dail…

This study tests whether verapamil, a common blood pressure medication, can help protect insulin-producing cells in people with cystic fibrosis who have early blood sugar problems or diabetes. Participants take verapamil for several weeks, and researchers measure changes in insul…

This trial investigates whether edaravone dexborneol sublingual tablets can improve blood-brain barrier function in people with CADASIL, a genetic condition that causes small strokes and cognitive decline. About 60 adults aged 18 to 80 with confirmed CADASIL will be observed for …

This study tests an oral drug, AV078, in people aged 12 and older with tuberous sclerosis complex (TSC) whose seizures are not controlled by standard medications. Participants are randomly assigned to receive AV078 or a placebo for 12 weeks. The goal is to see if AV078 safely red…

This phase 3 trial tests whether NPI-001, taken twice daily for 24 months, can slow the loss of light-sensing cells in the eyes of adults with Usher syndrome, a genetic condition that causes both hearing and vision loss. About 80 participants will receive either the drug or a pla…

This study tests a new microtablet protein substitute for people with phenylketonuria (PKU), a condition requiring a strict low-protein diet. The microtablets combine protein with vitamins and minerals, aiming to be easier to take than current liquid or powder options. About 20 a…

This study tests whether a low-carbohydrate, plant-based diet can lower inflammation in people with autosomal dominant polycystic kidney disease (ADPKD). Thirty-six adults will try the special diet and their usual diet in random order, each for 12 weeks. The main goal is to see i…

This study tests whether a common antibiotic for women's UTIs, fosfomycin-trometamol, works well for men with urinary tract infections. Current treatments can have serious side effects and increase antibiotic resistance. The trial will enroll 138 men in primary care and monitor f…

This study tests whether adding hyaluronic acid gel to standard deep cleaning (scaling and root planing) improves gum healing in people with both diabetes and advanced gum disease. Twenty-three participants will receive the standard cleaning on all teeth, and then two gum pockets…

This study tests whether everolimus, a drug already approved for other conditions, can safely improve social abilities in people with PTEN Hamartoma Tumor Syndrome (PHTS). About 60 adults and children with PHTS and social difficulties will take either everolimus or a placebo for …

This study tests whether a wearable monitoring system (ECG patch, temperature patch, and pulse oximeter) can reduce major heart complications in hospitalized patients with heart disease. About 1500 adults will be monitored either with standard care (vital signs every 4-8 hours) o…

This study tests whether a wearable goggle system that makes parathyroid glands glow can help surgeons find and protect them during thyroid removal. About 280 adults having thyroid surgery will take part. The goal is to reduce the risk of low calcium levels after surgery, a commo…

This first-in-human trial tests a genetic drug called TS1-ASO in 5 children with Timothy Syndrome, a rare condition causing severe heart and brain problems. The drug is injected into the spine to target the genetic root of the disease. The main goal is to check safety and how the…

This early-stage study tests whether a focused ultrasound can safely and temporarily open the brain's protective barrier in people with early Alzheimer's disease. The goal is to see if this helps clear harmful amyloid and tau proteins that build up in the brain. Six participants …

This early-stage study tests a one-time gene therapy (CS-206) in 5 teenagers with severe sickle cell disease. The treatment uses the patient's own blood stem cells, modified with a gene-editing tool, to help produce healthy red blood cells. The goal is to reduce painful blockages…

This study will follow 100 adults with von Hippel-Lindau (VHL) disease who choose to take belzutifan. Researchers will track how well the drug shrinks tumors, its side effects, and its impact on quality of life and healthcare costs. The goal is to better understand the drug's rea…

This study tests whether low-dose radiation to the whole brain can slow down Alzheimer's disease in people with early-onset symptoms. Fifty participants will be randomly assigned to receive either the radiation treatment or a sham procedure. Researchers will track changes in memo…

This study tests a new lab-made enzyme called NHS7108 in people with exocrine pancreatic insufficiency (EPI), a condition where the pancreas doesn't make enough enzymes to digest food. About 66 adults will take either NHS7108 or the standard enzyme Zenpep for 14 days each, while …

This phase 3 trial tests whether short-course radiation followed by chemotherapy and an immunotherapy drug (serplulimab) works better than standard long-course chemoradiation for high-risk locally advanced rectal cancer. 612 patients will be randomly assigned to one of the two tr…

This Phase 2 trial tests whether umbilical cord stem cells can safely improve movement and coordination in people with spinocerebellar ataxia (types 1, 2, 3, and 6). Forty-five participants will receive the cells through an IV and a spinal injection. The main goal is to see if sy…

This phase 2 trial tests the drug mirdametinib, alone or with radiation, in people with NF1-related high-grade gliomas (aggressive brain tumors). It includes three groups: those with recurrent sporadic glioblastoma, newly diagnosed NF1-associated glioblastoma, and other NF1-relat…

This study tests whether a drug called a PCSK9 inhibitor (Tafolecimab) can slow the progression of mild to moderate calcific aortic stenosis, a condition where the heart valve narrows and hardens. Researchers will give the drug to half of 160 participants and compare changes in v…

This pilot study tests whether a carefully supervised ketogenic diet can help people with Marfan syndrome who have a chronic aortic dissection avoid surgery for one year. Fifteen adults aged 18-50 will follow the diet with guidance from a dietitian, measure their blood ketones at…

This study will test 120 babies in Côte d'Ivoire for sickle cell disease using a simple point-of-care test. Babies who test positive will start comprehensive care early, including medicines and vaccines. Researchers want to see if this approach reduces serious health problems and…

This early-phase study tests an inhaled mRNA drug (BMD003) in 24 people aged 12 and older with cystic fibrosis. The goal is to see if it is safe and can improve lung function by delivering instructions to make a working CFTR protein. Participants will receive multiple doses and b…

This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with Schuurs-Hoeijmakers syndrome, a rare genetic condition. The drug aims to correct a specific genetic mutation to improve communication and motor skills. Only one participant …

This early-stage trial tests whether stem cells and their exosomes (tiny particles that help cells communicate) can safely improve movement in people with spinocerebellar ataxia, a condition that affects coordination and balance. Ninety participants will receive the treatment thr…

This early study tests a gene therapy called KL003 in just 3 people with severe sickle cell disease. The therapy uses the patient's own stem cells, modified to produce healthy hemoglobin, to reduce painful crises and the need for transfusions. The main goals are to see if the tre…

This study tests giving an immunotherapy drug (pembrolizumab) before surgery to people with a specific type of colon cancer (dMMR). The goal is to see if the drug can shrink or eliminate the tumor so some patients may avoid surgery and instead be closely monitored. About 152 adul…

This study tests whether giving immunotherapy drugs (nivolumab with or without ipilimumab) or immunotherapy plus radiotherapy before surgery can improve outcomes for people with a specific genetic type of colorectal cancer called MSI-H/dMMR. About 114 participants will be randoml…

This early-phase study tests whether combining focused ultrasound with the immunotherapy drug pembrolizumab is safe and feasible for people with recurrent glioblastoma, a severe brain cancer. Only 8 participants with a specific genetic feature (mismatch repair deficiency) will be…

This study tests whether a 12-month diet low in salt, caffeine, protein, and carbs, but high in potassium and water, can slow kidney cyst growth in 30 adults with ADPKD. Participants are split into diet and regular diet groups. The goal is to see if the diet reduces cyst progress…

This study tests two immunotherapy drugs (iparomlimab and tuvonralimab) in 30 women with a specific type of endometrial cancer that is mismatch repair-deficient. The goal is to see if the treatment can make the cancer disappear or shrink enough to avoid surgery. Participants must…

This phase 2 trial tests two different drug combinations given before surgery for people with a specific type of stomach cancer (dMMR/MSI-H). Participants will receive the immunotherapy drug adebrelimab plus either chemotherapy or another immunotherapy drug (SHR-8068). The goal i…

This early-phase trial tests an oral drug called Trineumin (PRG-N-01) in 25 adults with neurofibromatosis type II (NF2), a genetic condition that causes non-cancerous tumors on nerves. The study has two parts: first finding a safe dose, then checking if that dose can shrink tumor…

This phase 2 trial tests a drug called Progerinin in up to 5 adults with Werner syndrome, a rare condition that causes premature aging and bone loss. Participants take the drug twice daily for about a year. The main goal is to check safety and tolerability, not yet to prove it wo…

This study tests whether a high dose of plerixafor can safely collect enough stem cells from people with sickle cell disease for a future transplant. Twelve patients aged 18-25 will receive the drug and have their stem cells collected through a process called apheresis. The goal …

This study tests whether a lower dose of the chemotherapy drug treosulfan, given before a stem cell transplant, can help people with Nijmegen breakage syndrome. The condition causes immune problems and a high risk of cancer. The trial will enroll 24 patients, giving a lower dose …

This phase 2 trial will test a combination of immunotherapy drugs and chemotherapy given before surgery for people with a specific genetic subtype of stomach cancer (dMMR/MSI-H). The study aims to see how well this approach clears the tumor and to understand why some patients do …

This study tests whether tamoxifen citrate, a drug commonly used for breast cancer, is safe and tolerable for adults with cystic fibrosis who cannot take current CFTR modulator drugs. Thirty-five participants will take one tablet daily for six months and visit the clinic every 28…

This early-stage study tests whether adding specially-made viruses (phages) to standard antibiotics can safely treat stubborn lung infections in adults with cystic fibrosis. About 30 participants will receive a 7-day course of both treatments. The main goal is to check safety, bu…

This early-phase trial will test a single dose of a new drug called YOLT-204 in 18 children and teens with transfusion-dependent β-thalassemia or sickle cell disease. The goal is to see if it is safe and can raise fetal hemoglobin levels enough to reduce the need for blood transf…

This study is looking at whether a blood test called Galleri can help detect ovarian cancer early in people with BRCA1 or BRCA2 gene changes, who are at higher risk. Participants will give a blood sample and answer questionnaires about their experience. The study will also check …

This study investigates whether urine tests for two biomarkers (NAG and KIM-1) and special MRI scans can detect early kidney damage in children with sickle cell disease. The goal is to find a way to identify kidney problems before they become serious, potentially allowing earlier…

This study tests whether a bedside lung ultrasound, done within six hours of arriving at the emergency department, can help diagnose acute chest syndrome in adults with sickle cell disease experiencing a vaso-occlusive crisis. Acute chest syndrome is a serious lung complication t…

This study tests whether annual liquid biopsies (from blood, urine, stool, and vaginal swabs) can safely replace colonoscopies every 18 months for people with Lynch syndrome. 2,000 participants will be split into two groups: one gets standard care (colonoscopy every 18 months), t…

This study tests whether combining point-of-care screening with community-based strategies can help identify infants with sickle cell disease early and connect them to care. Researchers will screen up to 6,750 newborns in Mozambique and track their health outcomes. The goal is to…

This study tests whether a swallowable capsule camera (colon capsule endoscopy) can effectively screen for colorectal cancer in people with Lynch syndrome, a genetic condition that greatly increases cancer risk. Researchers will compare the capsule's ability to find polyps and ot…

This study will enroll 5000 adults to see if a one-minute, single-lead ECG, analyzed by machine learning, can detect heart conditions like high blood pressure, heart failure, and diabetes. Participants will have their ECG recorded twice and compared with full medical exams. The g…

This study tests whether a simple saliva swab can find genetic causes of neurodevelopmental or intellectual disorders when standard blood tests have not. Researchers will use advanced DNA sequencing on cheek cells from 50 participants. The goal is to improve diagnosis and help gu…

This study will test a new device called the micro Sweat Test Patch (µSTP) that measures chloride levels in sweat to help diagnose and monitor cystic fibrosis (CF). Researchers will compare the new patch to the standard sweat test in 300 newborns, children, and adults with CF. Th…

This study aims to develop a more accurate test for cystic fibrosis (CF) using lab-grown mini organs called organoids, made from a small piece of gut tissue. The researchers will compare this new test with current methods like sweat tests and genetic testing in 80 people who are …

This study compares a new DNA sequencing platform (MGI) against the current standard (Illumina) for diagnosing hereditary cancers like breast and ovarian cancer, Lynch syndrome, and intestinal polyposis. Researchers will analyze 248 patient samples using both platforms to see if …

This early-phase trial tests a personalized vaccine made from a person's own immune cells (dendritic cells) loaded with cancer-specific markers. The goal is to train the immune system to recognize and destroy precancerous cells in people with Lynch syndrome, who have a high risk …

This phase III trial tests whether a vaccine made from a person's own immune cells can prevent cancer in 372 adults with Lynch syndrome, a genetic condition that raises cancer risk. Participants receive either the vaccine or a placebo and are monitored for tumor development. The …

This trial tests whether a smartphone-based mindfulness program can help adolescents and young adults with sickle cell disease manage chronic pain and sleep problems. Participants are randomly assigned to either use the mindfulness app for about 8 weeks or receive usual care. The…

Adults with sickle cell disease often face severe pain crises that require hospital treatment with intravenous morphine. This trial compares standard morphine treatment with combinations that add paracetamol, ketamine, or nefopam. Researchers want to see if these combinations eas…

This trial tests whether XPhe Piccos, a slow-release protein substitute in tiny tablets without phenylalanine, is acceptable and well-tolerated in children aged 3 and older with phenylketonuria (PKU) or hyperphenylalaninemia. Participants replace some or all of their usual protei…

This trial tests whether short educational videos or interactive games can empower children with sickle cell disease. The goal is to help kids aged 12 to 18 understand their condition and build skills for self-care and managing pain. Researchers will measure changes in self-effic…

This trial tests whether a single dose of buprenorphine, given as a film inside the cheek, is safe and helps control pain in adolescents and young adults with sickle cell disease who are hospitalized for a pain crisis. Participants receive one dose of buprenorphine instead of sta…

This early-phase trial tests a new nasal ointment called TOR-582, which contains sirolimus, in 27 adults with hereditary hemorrhagic telangiectasia (HHT) who have frequent nosebleeds. Participants apply the ointment inside their nostrils twice daily for 12 weeks, with different s…

This study will test whether eating flaxseed, a source of omega-3 fatty acids, can help reduce pain and improve daily life for children with sickle cell disease. Twenty children aged 5 to 18 will take part. The main goal is to see if it's possible for them to eat flaxseed regular…

This pilot study tests a therapy protocol based on cognitive-occupational principles (CO-OP) for children and adolescents aged 10-21 with mild to moderate intellectual disability. The intervention involves weekly 45-minute sessions over 12-15 weeks, delivered by occupational ther…

This study tests a virtual reality app called Amani designed to help adults with sickle cell disease manage pain, emotional distress, and social isolation. Researchers will enroll 40 adults to see if the app is easy to use and helpful for improving coping skills and peer support.…

This trial tests whether pain reprocessing therapy (PRT) — a brief psychological treatment that combines education, cognitive restructuring, and body-focused techniques — can reduce chronic pain. Adults with persistent pain lasting over three months are randomly assigned to full …

This study looks at whether adding a continuous saltwater mist to warm, humidified air can make thick lung mucus easier to clear. 35 adults hospitalized with lung conditions like COPD or cystic fibrosis will receive both treatments on separate days. Researchers will measure mucus…

This study looks at whether adding a gentle vibration to dry needling can reduce low back pain better than dry needling alone. About 36 adults with long-term low back pain will receive either standard dry needling or dry needling with vibration. The goal is to see if the vibratio…

This study tests whether a low-dose ketamine injection can relieve pain in children with sickle cell disease during a pain crisis better than standard opioid medications. Researchers will compare how quickly pain improves and whether fewer children need to be admitted to the hosp…

This study explores whether using a virtual reality headset can help reduce pain for adults with sickle cell disease during a painful crisis. Participants will try different types of headset experiences—like watching a 2D video or exploring a 3D world—during their infusion center…

This study tests whether minocycline, an antibiotic that reduces brain inflammation, can safely prevent or reverse memory and thinking problems in adults with sickle cell disease. About 30 participants will take either a low dose, high dose, or placebo for one year. Researchers w…

This study tests whether adding exercise training to a standard chest-vibration vest (HFCWO) helps people with cystic fibrosis clear mucus, cough less, and walk farther. Twenty-four adults aged 16–35 will either get the vest plus exercise or the vest alone for 8 weeks. The goal i…

This study tests whether an 8-week tele-rehabilitation program can improve muscle mass, reduce frailty, and enhance quality of life in adults with cystic fibrosis. Participants will do supervised exercise sessions at home via video calls three times a week. The goal is to see if …

This study tests if iloprost, a drug that widens blood vessels and reduces inflammation, can help adults with sickle cell disease during painful vaso-occlusive crises. About 144 participants hospitalized for a crisis will receive either iloprost or a placebo, plus standard care. …

This study tests whether giving ketamine within an hour of pain onset can prevent hospital admission for children and young adults with sickle cell disease. 90 participants aged 6-24 will receive either ketamine or a placebo by mouth. If admitted, they can still receive standard …

This study looks at whether doing aerobic exercise at home, with or without the drug omaveloxolone, can safely improve fatigue and heart-lung fitness in people with Friedreich's ataxia. About 30 adults with the condition will take part. The goal is to see if the combination helps…

This study compares two types of nipple-sparing mastectomy: one done with a robotic arm through a small side incision, and the standard open surgery. Researchers want to see if the robotic method improves women's satisfaction, body image, and recovery over 12 months. The trial wi…

This study tests whether awake prone positioning (lying on the stomach while awake) can help sickle cell patients with severe acute chest syndrome in the ICU. The approach aims to improve oxygen levels and breathing by evening out air flow in the lungs. Fifteen adults will be enr…

This study screens up to 1,000 people with personal or family histories of certain cancers to see if they qualify for ongoing genetics research at the National Cancer Institute. Participants fill out a 15-20 minute online survey about their health and family history. No treatment…

This observational study gathers information from routine care on how localized rectal cancer is treated across Austrian hospitals. It aims to document the variety of treatment approaches, including total neoadjuvant therapy and immunotherapy, and their outcomes. By analyzing thi…

Researchers at Assiut University Children Hospital are studying how often children who come to the emergency department have an abnormal heart rhythm. The study includes children aged 1 month to 18 years who arrive with symptoms such as palpitations, chest pain, fainting, or trou…

This project at King's College London asks how hospital outpatient departments can work better for people with neurofibromatosis who also have sensory challenges. About 30 patients, carers, and staff from Guy's and St Thomas' NHS Foundation Trust take part in interviews, observat…

Researchers are studying how the cystic fibrosis drugs elexacaftor, tezacaftor and ivacaftor move through the body. The trial enrolls people aged 6 and older with cystic fibrosis who carry at least one F508del mutation and already take this drug combination. Participants keep the…

Researchers at Assiut University are studying whether ionized calcium levels, measured from a routine blood sample when a patient enters the ICU, can signal how severe sepsis or septic shock is. The study follows 160 adults admitted to intensive care within 24 hours of presentati…

This study tests whether shining a special light on the head (transcranial photobiomodulation) can improve oxygen use and thinking skills in children with sickle cell disease. The brain needs steady oxygen, but sickle cell can reduce blood flow. Researchers will randomly assign 6…

This pilot study is testing whether wearable patch monitors can help detect heart problems early in adults undergoing treatment for breast cancer, blood cancers, or multiple myeloma. Participants will wear two patches—one that tracks heart rhythm continuously and another that rec…

Researchers are taking a blood sample from one child with Hutchinson-Gilford progeria syndrome, a rare condition that causes rapid premature aging. They plan to turn those blood cells into stem cells and then into disease-relevant cells like muscle and nerve cells. This lab model…

This study looks at whether mindfulness-based stress reduction can help Black teenage girls who have been involved with the justice system and their parents or caregivers. About 90 participants will report on stress, PTSD symptoms, and other outcomes before and after the program.…

This phase 1 study tests whether VX-407, an experimental drug for polycystic kidney disease, changes how combined oral contraceptives are processed in the body. Healthy women will take VX-407 alongside different birth control pills, and researchers will measure hormone levels in …

This study tests an online tool called 'Let's Talk' designed to help people with Lynch syndrome encourage their relatives to get screened for the condition. Lynch syndrome is a genetic disorder that raises cancer risk, and only about half of close relatives currently get tested. …

This study tests a program to help people with inherited cancer gene mutations (like BRCA or Lynch syndrome) stick to recommended cancer screening schedules. Researchers will interview 80 female participants and provide standard care to see if this approach improves adherence and…

This study tests whether MRI scans can reliably measure fluid movement in the gut of adults with cystic fibrosis, and whether the drug linaclotide changes those measurements. Linaclotide, already used for constipation, works by drawing fluid into the gut to help things move along…

This study looks at whether people with cystic fibrosis (CF) who take newer modulator drugs are developing heart disease. Researchers will use ultrasound to measure blood vessel and heart health, then repeat the tests a year later to see how things change. They will also check if…

This study is testing whether a new digital tool—using AI-powered video games and a single camera—can accurately measure movement problems in people with Friedreich ataxia, a rare inherited condition that affects balance and coordination. Participants play short movement-based co…

This study tests a program to help people with certain genetic mutations share their results with at-risk relatives and make informed decisions about genetic testing and care. About 2100 adults in the U.S. who speak English or Spanish will take part. The program provides free gen…

This study looks at children with Von Hippel-Lindau (VHL) disease, a rare genetic condition that causes tumors in the brain and spinal cord. Researchers want to understand how these tumors grow over time and what factors predict when a child will need surgery. By reviewing medica…

This study tests whether a computer simulation can help pharmacists and pharmacy students better understand the pain struggles of sickle cell disease patients. About 200 healthcare professionals will use a point-of-view simulation and then complete surveys to see if their misconc…

This observational study will measure thyroid hormone levels in stored blood and urine samples from 51 people with severe chronic kidney disease (stages 4 and 5). Researchers aim to understand how these hormones differ in patients with and without polycystic kidney disease. The s…

This study will enroll 200 children with cystic fibrosis (100 Hispanic, 100 non-Hispanic white) to measure indoor and outdoor air pollution and see how it relates to lung function, inflammation, and airway bacteria. Researchers hope to understand why Hispanic children often have …

This study follows people with chronic lung diseases like bronchiectasis, cystic fibrosis, and COPD to understand how bacteria become resistant to antibiotics. Researchers will collect samples and health data over time to map resistance patterns and genetic causes. The goal is to…

This study looks at whether a tumor's DNA repair status (MMR) changes how well the presence of cancer cells in lymph vessels predicts spread to lymph nodes in stomach cancer. Researchers will review medical records of 3,000 patients who had surgery. The goal is to improve risk as…

This study will collect blood samples and medical information from 600 adults with rare diseases affecting blood vessels in the brain and eye, such as CADASIL and cavernous angioma. The goal is to create a long-term biobank that researchers can use to find biomarkers and better u…

This study looks at 150 people with persistent atrial fibrillation (a type of irregular heartbeat) who are scheduled for a heart procedure called ablation. Researchers want to see if levels of a protein called BDNF in the blood are linked to signs of heart muscle damage (atrial c…

This study will look at medical records of 350 children with sickle cell disease in France who had serious bacterial infections between 2020 and 2025. The goal is to find out which bacteria are causing these infections today, especially with new vaccines available. The results co…

This study will measure leg and handgrip strength in about 2,800 healthy adults and people with chronic lung diseases across Spain, Portugal, and Italy. Researchers want to create normal muscle strength values for these populations and see if the same standards can apply to peopl…

Denys-Drash syndrome is a rare genetic condition that causes kidney failure in early childhood, often requiring a transplant. Past research suggests these children have a much higher chance of developing a type of lymphoma after transplant compared to other kids. This study will …

This study will check if people with Lynch syndrome, a genetic condition that raises cancer risk, have more gum disease than the general population. Researchers will look at dental records from 25 adults with Lynch syndrome. The goal is to see if gum disease is a hidden health is…

This study tests a web-based program called Kindred that helps African American families understand their genetic cancer risk and talk about testing. About 150 people will use the tool to see if it improves knowledge and testing rates. The goal is to make genetic information more…

This study looks at how young children with neurofibromatosis type 1 (NF1) walk, to see if simple walking tests can help doctors spot and predict movement problems early. Researchers will measure walking speed and other skills in 56 children under 6 years old. The goal is to crea…

This study looks at 128 adults having gallbladder surgery to see if using a low-flow (more eco-friendly) versus normal-flow sevoflurane anesthesia changes heart electrical signals linked to dangerous rhythms. Researchers will measure these signals before, during, and after surger…

This early-stage study tests how a new drug called JMKX003142 interacts with other common medications in 112 healthy Chinese adults. The drug is being developed for autosomal dominant polycystic kidney disease (ADPKD). Researchers will measure how the body processes JMKX003142 wh…

This study looks at how genetic differences affect the way Nigerian sickle cell patients respond to hydroxyurea, a common treatment. Researchers will monitor 100 patients to build a computer model that predicts the best dose for each person. The goal is to reduce side effects and…

This study tests a 90-minute virtual training for healthcare providers that teaches them to see each patient's unique perspective and communicate more clearly. The goal is to improve how doctors talk to children with sickle cell disease. Thirty providers from three hospitals will…

This study looks at whether a quick, non-invasive breathing test called impulse oscillometry (IOS) can help doctors find the right pressure settings for sleep apnea machines. Currently, patients often need an overnight sleep study to determine the correct pressure. The study will…

This study looks at whether re-sterilized (reprocessed) catheters work as well as new ones for heart ablation procedures. About 200 adults needing this treatment will be randomly assigned to get either a new or a reprocessed catheter. Researchers will compare how long the procedu…

This study looks at the teeth, mouth, and face health of 25 people with Mowat-Wilson syndrome, a rare genetic condition. Researchers will check for cavities, gum disease, and facial features, and ask about quality of life. No treatment is given—the goal is to gather information t…

This study looks at the blood immune cells of 10 adults with a rare inherited skin condition called NIPAL4 ichthyosis. Researchers want to understand why three patients with this skin disease also developed a very rare lymphoma (Sezary syndrome). By describing the normal immune c…

This study looks at how hereditary hemorrhagic telangiectasia (HHT) affects the quality of life of children and young adults aged 2 to 25. Participants will fill out questionnaires about their physical, emotional, and social well-being. Researchers will also review medical record…

This early-stage study checks whether a single dose of JMKX003142 affects the heart's electrical activity in 24 healthy Chinese adults. Participants will be randomly assigned to receive the drug or a placebo. The goal is to see if the drug causes any changes in heart rhythm, not …

This study looks at how different types of anemia—like iron deficiency or thalassemia—can change HbA1c levels, a common test for diabetes, in people who do not have diabetes. Researchers will compare HbA1c results between 100 non-diabetic adults with various anemias and a healthy…

This phase 1 trial will enroll 8 healthy Chinese men to study how the experimental drug JMKX003142 is absorbed, broken down, and eliminated from the body. Participants will receive the drug in both pill and IV forms, some with a radioactive tracer. The study aims to measure the d…

This study explores whether MRI can produce clear images of the lungs and airways in people with cystic fibrosis (CF) and healthy volunteers. Researchers will use computer assistance to measure airway size and shape, and repeat the MRI two years later to see if changes occur. A s…

This study will look at 118 adults with Marfan syndrome to understand why they may not be physically active. Researchers will measure factors like fear of movement, fatigue, pain, and heart health. The goal is to identify what predicts low activity levels, which could help improv…

This study looks at how blood phenylalanine (Phe) levels affect thinking, emotions, and daily functioning in adults with PKU. Researchers will ask 30 adults with PKU and their relatives to complete questionnaires. The goal is to understand why some people with high Phe levels hav…

This study looks at how cystic fibrosis medications (CFTR modulators) change in the body during pregnancy and after childbirth in 30 women. Researchers will measure drug levels in blood, breast milk, and umbilical cord blood. The goal is to understand how these drugs work in preg…

This study will review medical records of 25 children with sickle cell disease to see how often they experience painful vaso-occlusive crises and what complications arise. Researchers hope to identify risk factors that could lead to better care. No new treatments are being tested…

This study will follow 1,100 people with atrial fibrillation who have a pulsed field ablation procedure. The goal is to find out which patient traits and procedure details make a repeat ablation more likely. Researchers will track heart rhythm problems and side effects for one ye…

This early-stage study tests how a new drug called JMKX003142 interacts with two common medications—amiodarone (for heart rhythm) and febuxostat (for gout)—in 48 healthy Chinese adults. Participants will take the drugs in sequence to measure how their bodies process them. The goa…

This study will look at 35 children with joint problems that are not caused by inflammation, such as stiffness or deformity. Researchers will use exams, lab tests, and imaging to find the true cause, which could be rare genetic conditions like mucopolysaccharidoses or osteogenesi…

This study examines how regular blood transfusions (exchange transfusions) affect thinking speed in adults with severe sickle cell disease. Researchers will test 85 participants remotely using a simple symbol-matching task and other cognitive assessments at different points in th…

This study will review medical records of 150 people with Marfan syndrome or Ehlers-Danlos syndrome to understand bone mineralization and fracture risk. Researchers will look at past bone density scans and health data to see how bone health changes over time. The goal is to learn…