Multiple congenital anomalies/dysmorphic syndrome

This study follows 30 people with Alagille syndrome who are taking odevixibat (Bylvay) in their daily lives. The goal is to see if the drug helps them avoid serious surgeries like liver transplant or bile duct repair over the long term. Researchers will also track weight, height,…

This study is testing a device called ExAblate 4000 that uses focused ultrasound waves to treat non-cancerous brain tumors in children and young adults. The goal is to see if the treatment is safe and can shrink tumors without open surgery. About 20 participants will be enrolled,…

This trial tests a gene therapy for Fanconi anemia, a rare genetic disorder that causes bone marrow failure and increases cancer risk. Participants receive their own stem cells that have been genetically corrected with a lentiviral vector to fix the faulty FANCA gene. The study e…

This phase 3 trial compares a once-weekly growth hormone injection (lonapegsomatropin) to a daily one (somatropin) in 186 prepubertal children with growth failure due to Turner syndrome, SHOX deficiency, being small for gestational age, or idiopathic short stature. The goal is to…

This study follows 230 children with Alagille syndrome or progressive familial intrahepatic cholestasis (PFIC) who are taking Livmarli, a drug to reduce bile buildup and itching. Researchers will monitor side effects, liver function, and long-term outcomes like need for transplan…

This early-stage study tests a new drug called azirkitug, alone or with other cancer medicines, in people with advanced solid tumors like lung, head/neck, and pancreatic cancers. The goal is to find safe doses and check side effects. About 694 adults will take part worldwide, rec…

This study tests whether adding AGuIX gadolinium-based nanoparticles to standard brain radiation can better control brain metastases that are at high risk of coming back. About 134 adults with certain cancers (like melanoma, lung, breast, or colorectal) that have spread to the br…

This study tests whether custom 3D-printed titanium implants can safely and effectively rebuild facial bones in 30 adults with defects from injury, cancer surgery, or birth conditions. Each implant is designed from CT scans to match the patient's unique anatomy. Researchers will …

This Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…

This early-phase trial is testing a new drug, FOG-001, in about 595 people with advanced or metastatic solid tumors, including colorectal, prostate, and liver cancers. The drug is given alone or with other cancer treatments to see if it is safe and shrinks tumors. The study is cu…

This study tests a drug called afatinib in 25 adults with Fanconi anemia who have advanced head and neck cancer that cannot be removed by surgery. Afatinib is a pill that blocks a protein helping cancer grow. The goal is to see if it can shrink tumors and control the disease. Res…

This early-phase study tests a new drug called DSB2455 in adults with advanced cancers (breast, ovarian, prostate, pancreatic, or brain metastases) that have a specific DNA repair problem. The main goals are to check safety and see if the drug shrinks tumors. About 180 participan…

This study tests a new drug called BNT326, given alone or with other cancer immunotherapies, in about 980 adults with advanced solid tumors that have spread or come back after prior treatment. The goal is to find the best dose and see if it is safe and effective. It is an early-s…

This early-stage trial tests an experimental drug called CSTI-500 in 12 people aged 13 to 50 with Prader-Willi syndrome, a genetic condition that causes constant hunger and behavioral issues. The study aims to see if the drug is safe and can reduce excessive eating behaviors. Par…

This study tests a stem cell transplant for people with common variable immunodeficiency (CVID) and other immune disorders. The goal is to replace the faulty immune system with a healthy donor's stem cells. Participants are aged 5 to 40 and will receive a reduced-intensity transp…

This study tests vosoritide, a protein that stimulates bone growth, in 30 children with Noonan syndrome who are not growing well despite growth hormone treatment. The goal is to see if vosoritide can safely increase their growth rate over six months. Participants will receive one…

This study tests a new gene therapy called MZ-1866 for children and adults with Pitt Hopkins Syndrome, a rare genetic condition that affects development and breathing. The therapy is given as a single injection into the fluid around the brain. The main goal is to see if it is saf…

This study compares two flapless surgical techniques used alongside braces to see which better improves gum and bone changes. Forty adults with mild to moderate crowding will receive either a soft tissue graft or a bone graft during their orthodontic treatment. Researchers will m…

This study tests whether a purine-rich diet can lower disease markers in people with AICA-ribosiduria, a rare genetic condition causing severe disability and epilepsy. Ten participants will follow a diet with 160 mg of purines per day. Early results in one patient showed promise,…

This study tests two experimental drugs, BNT326 and BNT327, in people with advanced non-small cell lung cancer that has spread or come back. The trial has three parts to find the best dose and check safety, and will compare the combination to standard treatments like pembrolizuma…

This study is testing whether a drug called vorinostat is safe and helpful for people with Pitt Hopkins syndrome, a rare genetic condition that affects development. Five participants will each receive a placebo and two different doses of the drug in a special 'N-of-1' design, mea…

This study tests a program called Pediatric Medication Therapy Management (pMTM) for children with complex medical conditions who take five or more medications. The program involves a thorough review of all medicines, optimizing the regimen, and creating a clear medication plan. …

This early-stage trial is testing a new cancer vaccine called BNT116, alone or with other drugs, in people with advanced non-small cell lung cancer. The main goal is to find a safe dose and check for side effects. About 320 participants will be enrolled across several groups, inc…

This study compares two types of tiny screws used in braces to help move upper front teeth. One type has a special silver-hydroxyapatite coating, while the other is uncoated. Researchers want to see if the coated screws are more successful and allow faster tooth movement. The tri…

This study tests a device that removes specific immune cells from donated stem cells before transplant. The goal is to lower the risk of graft-versus-host disease, where donor cells attack the patient's body. Up to 90 children and young adults (ages 0-30) will receive these treat…

This study follows 120 Israeli children and teens with type 1 diabetes who use the Medtronic 780G system, a closed-loop insulin pump that automatically adjusts insulin. Researchers will track blood sugar control, sleep, diet, and emotional well-being over two years. The goal is t…

This study tests whether adding macitentan to the standard drug dapagliflozin improves outcomes for people with heart failure and a specific type of high blood pressure in the lungs. 64 adults in South Korea will take either the combo or dapagliflozin alone for 24 weeks. Research…

This study tests whether probiotics and prebiotics can safely help control appetite and weight gain in 60 children with Prader-Willi syndrome, a rare genetic condition that causes severe obesity. Researchers will measure changes in body mass index, body fat, and gut bacteria over…

This study tests a new drug called ION440 in 48 people with MECP2 duplication syndrome, a rare genetic condition that causes intellectual disability and seizures. The drug is given via a spinal injection to see if it is safe and how the body processes it. Some participants will r…

This early-stage trial tests a gene therapy called Urbagen in 12 children aged 2-12 with CTNNB1 neurodevelopmental syndrome, a rare genetic condition causing motor and cognitive delays. The therapy is given as a single infusion into the brain fluid, along with immunosuppressant d…

This study looks at thinking and mental health issues in people with Velocardiofacial, Williams, and Fragile X syndromes. Researchers will test how well medications like methylphenidate, fluoxetine, and risperidone improve these symptoms. The goal is to better understand and trea…

This study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…

This study tests whether giving L-Citrulline, a natural supplement, for 28 days can help hospitalized children aged 1 month to 5 years who have fever and are at high risk of serious problems. About 888 children in Mozambique and Ethiopia will receive either the supplement or a pl…

This expanded access program offers a special stem cell purification technique (CD34+ selection) for patients undergoing stem cell transplants. The method removes many T-cells from the donated stem cells, which lowers the risk of a serious complication called graft-versus-host di…

This trial tests whether using two defibrillators in sequence, instead of the standard single defibrillator, can improve survival in people whose hearts are in a shockable rhythm but don't respond to the first shock. About 916 adults with out-of-hospital cardiac arrest will be ra…

This phase 2 trial tests a special stem cell transplant for people with inherited bone marrow failure disorders like Fanconi anemia. The transplant uses a technique to remove certain immune cells, aiming to reduce the need for long-term immune-suppressing drugs and lower infectio…

This study tests a new way to treat Fanconi Anemia, a rare genetic disorder that causes bone marrow failure. Doctors will give patients donor stem cells that have been specially filtered to remove certain immune cells, along with an experimental antibody called JSP191. The goal i…

This study tests a weekly injection called RM-718 in healthy people with obesity and in patients with obesity caused by problems in the MC4R pathway, including hypothalamic obesity and Prader-Willi syndrome. The main goal is to check the drug's safety and how the body processes i…

This phase 2 trial is testing a stem cell transplant using a milder chemotherapy regimen to treat people with severe immune deficiencies and inherited bone marrow failure. The goal is to see if donor cells can safely take over and rebuild a healthy immune system. Up to 27 partici…

This study tests whether dynamic surface exercise training (exercises on unstable surfaces like physio balls) can improve mobility, balance, and coordination in children aged 5-8 with diplegic cerebral palsy. 14 children will be randomly assigned to either the dynamic surface exe…

This study tests a stem cell transplant approach for people with Fanconi Anemia who don't have a perfectly matched donor. The goal is to see if using lower doses of chemotherapy before the transplant can reduce serious side effects. About 70 participants will receive a transplant…

This study tests tirzepatide, a weight loss medication, in 36 young adults aged 18-26 with obesity from Prader-Willi syndrome, hypothalamic obesity, or general causes. Participants take the drug for 48 weeks to see how much weight they lose and how their health changes. The goal …

This study tests a new way to treat large brain tumors using two different radiation machines. Patients get four daily treatments with a linear accelerator, then a break, followed by one precise Gamma Knife treatment. The goal is to better control tumors while protecting healthy …

This study explores whether MRI scans can safely and accurately detect cancerous or precancerous mouth lesions in people with Fanconi Anemia, a rare genetic condition that raises cancer risk. Researchers will compare MRI results to standard biopsies in 80 adult participants. If s…

This study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…

This study is testing whether a non-invasive brain imaging technique called fNIRS can reliably measure brain function in people with Fragile X syndrome or Creatine Transporter Deficiency. Researchers will use a cartoon-based visual stimulus to record brain activity and compare it…

This study will screen 13,000 children in China using urine tests and ultrasound to find kidney disease early. The goal is to see how common kidney problems are in kids and to build a system to predict who is at risk. Children with abnormal results will be referred for further ca…

This study tests whether a rapid triage test (suPAR) can help doctors make better decisions about admitting or discharging children with fever. Over 5,000 children aged 2 months to 5 years in sub-Saharan Africa will be randomly assigned to standard care or standard care plus the …

This study tests a new genetic technique called optical genome mapping (OGM) to find hidden DNA changes in children with multiple birth defects and intellectual disability. Standard genetic tests have already failed to find a cause for these children. Researchers will collect a b…

This study tests whether an artificial intelligence (AI) algorithm can screen for coronary artery disease (CAD) by analyzing facial images. Researchers will enroll 1,392 high-risk adults (those with diabetes, high blood pressure, or over 65) and use the AI to classify them as hig…

This study tests whether showing cartoon video clips and using character voices during a visual field test can help children aged 5-8 stay focused and give more reliable results. Twenty children with certain eye conditions will be tested twice, once with the cartoon intervention …

This study will place dental sealants on 420 back teeth in children and teens aged 7 to 18. Half of the teeth are healthy, and half have very early cavities. Researchers will check how well the sealants stay on over 12 months to see if early decay affects retention. The goal is t…

This study tests three cavity-prevention methods in 204 Mexican schoolchildren aged 6-8. One group gets fluoride varnish alone, another gets a glass ionomer sealant plus fluoride varnish, and the third gets a Giomer® sealant. All children also receive dental health education. Res…

This study tests whether a personalized facial rehabilitation program can help people with systemic sclerosis who have facial tightness and mouth problems. About 60 adults with this rare autoimmune disease will either receive the rehab program or standard care. The goal is to see…

This study compares two dental devices—the Leaf expander and the Hyrax expander—in 30 children aged 6 to 12 who have a crossbite (when upper teeth sit inside lower teeth). The main goal is to see which expander causes less pain during the first week. Researchers will also measure…

This study tests whether L-dopa, a drug used for Parkinson's, can improve movement and communication in children with a rare genetic disorder called CTNNB1 syndrome. The condition causes developmental delays, muscle stiffness, and trouble walking. Seven children aged 1 to 15 will…

This study tests a group program to help teens (ages 13-17.5) with Prader-Willi Syndrome and their families learn practical ways to handle irritability, meltdowns, and anxiety. Ten participants will attend weekly 90-minute sessions. The goal is to see if the program improves emot…

This study tests whether bright light therapy can help reduce excessive daytime sleepiness in people with Prader-Willi syndrome. About 50 participants will receive either bright light or a dim placebo light. The goal is to see if the therapy improves alertness, mood, and behavior…

This study is testing whether hypnosis can lower anxiety in people having facial surgery under local anesthesia. Sixty-six adults who are at least mildly anxious will either get standard care or extra hypnosis support. Researchers will measure anxiety levels before and after surg…

This study tests whether playing Kho-Kho, a traditional Indian tag game, can improve agility and reaction time in school children aged 8 to 12. Over 6 weeks, 48 kids will either play Kho-Kho or do free play three times a week. Researchers will measure changes in agility and react…

This study tests whether a supplement called MyCondro can help people with knee osteoarthritis move better and feel less joint discomfort. Researchers will give two different doses to 240 adults aged 45 and older who have had knee problems for at least six months. The main goal i…

This Phase 3 trial tests whether pitolisant can reduce excessive daytime sleepiness in people aged 6 and older with Prader-Willi syndrome. About 134 participants will receive either pitolisant or a placebo, and researchers will also look at effects on behavior and appetite. The s…

This study tests whether custom-made 3D-printed masks fit children better than standard commercial masks for non-invasive ventilation (NIV). Fifteen children aged 8-12 who already use NIV but have poor adherence will try a custom mask made from a 3D facial scan. Researchers will …

This study looks at whether the Alexander technique, a method that teaches better posture and movement habits, can help children aged 5 to 9 with Duchenne muscular dystrophy control their upper limbs and feel better day-to-day. About 33 kids will take part, and researchers will m…

This study tests whether sensory exercises can improve repetitive behaviors, communication, social interaction, and motor skills in children with autism. About 26 children aged 5 to 11 will take part. Researchers will measure changes using standard questionnaires before and after…

This study tests whether Acceptance and Commitment Therapy (ACT), delivered through a smartphone app, can help caregivers of children with RASopathies (like Neurofibromatosis type 1 and Noonan syndrome) cope with parenting stress. The trial is fully remote and involves 70 adult c…

This study looks at whether watching an animated film or reading a storybook can lower fear and anxiety in children aged 7 to 12 who have just been diagnosed with type 1 diabetes. About 64 children will take part, and their anxiety levels will be measured using special child-frie…

This study tests whether playing with a therapeutic toy doll before getting a shot can reduce fear, anxiety, and pain in children aged 4-6. Half the kids will practice the injection steps on a doll first, while the other half get the shot as usual. Researchers will measure fear a…

This study tests whether a mindfulness-based emotion regulation training program can help children aged 7-11 who are hospitalized for at least four days feel less afraid and better control their emotions. Half of the 54 participants will receive the training alongside usual care,…

This study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …

This study tests whether a custom 3D-printed mouth splint can help burn patients who have developed microstomia (a tight, small mouth opening). Ten participants will use the splint and be measured for changes in mouth size and function using a special survey. The goal is to ease …

This study looks at whether doing adapted physical activity every day can improve sleep quality in children aged 5 to 16 who are being treated for blood cancer. About 30 children will take part, with some exercising daily and others just once over four days. Parents will track sl…

This study tests whether a noninvasive technique called transcranial magnetic stimulation (TMS) can change brain activity related to hunger and fullness in people with Prader-Willi syndrome. Researchers will stimulate a part of the brain called the cerebellum and measure changes …

This study tests whether a gentle brain stimulation technique called tACS, used at home for 5 days a week over 4 weeks, can improve memory and thinking in 40 young people aged 14-25 with 22q11.2 deletion syndrome. The stimulation is personalized based on each participant's MRI an…

This study looks at whether doing Bulgarian bag exercises—like squats and lunges with a weighted bag—can improve lower limb function, posture, and balance in healthy school children aged 8 to 16. About 345 kids will take part, doing exercises guided by a therapist. Researchers wi…

This study looks at whether the Alexander Technique, a method that teaches better posture and movement, can help teenagers aged 13 to 16 with upper cross syndrome (a common postural problem). Thirty-six participants will either practice the Alexander Technique at home with parent…

This study tests whether a 12-week Pilates program can reduce pain and improve trunk muscle endurance in 140 children aged 12-16 who have backpack syndrome. One group does Pilates twice a week, while the other does standard stretching. Researchers will measure pain levels and how…

This study tests a behavioral therapy for children with Cornelia de Lange syndrome (CdLS) who have problem behaviors like aggression or self-injury. Researchers will identify what triggers these behaviors and then train parents to use a tailored treatment. The goal is to reduce p…

This study looks at anxiety related to cancer screenings in adults with Fanconi anemia, a rare condition that raises cancer risk. Researchers will observe 20 participants during their regular screening visits, noting body language, worries, and the clinic environment. No treatmen…

This pilot study looks at how different types and intensities of exercise affect muscle recovery in people taking statins compared to those not on statins. Researchers will test cycling and resistance training at various levels, measuring muscle damage markers and pain sensitivit…

This study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

This study aims to uncover the genetic causes of a group of eye conditions called MAC (microphthalmia, anophthalmia, and uveal coloboma), which can lead to vision loss or blindness. Researchers will collect DNA samples from 600 people—both those with MAC and their close relatives…

This study looks at how to reduce the long and frustrating journey to a diagnosis for people with developmental abnormalities. Researchers will review past cases, collect new blood or skin samples, and use advanced genetic testing. The goal is to understand why some people remain…

This study checks if a French version of the MEPS/MEPI elbow score works well for children aged 4 to 17. It includes kids with and without elbow injuries to see if the score accurately measures elbow pain and function. The goal is to make sure doctors can use this tool reliably i…

This study aims to learn more about RASopathies, a group of genetic conditions that can cause developmental issues, birth defects, and increased cancer risk. Researchers will follow up to 500 people of any age who have or may have a RASopathy, along with their family members, for…

This natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…

This study follows people with Fanconi anemia, a rare inherited condition that raises the risk of certain cancers, especially squamous cell carcinoma. Researchers will screen 200 participants aged 12 and older every year for up to 10 years using exams, blood tests, and imaging to…

This study collects blood, bone marrow, and other samples along with health information from up to 1,716 people with non-cancerous blood diseases and their family members. Researchers will analyze the participants' genes to find new genetic causes of these conditions and understa…

This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

This study looks at facial features of males aged 2 to 40 with creatine transporter deficiency (CTD), a genetic disorder that causes intellectual disability, seizures, and behavioral issues. Researchers will examine photos of participants to see if they share common facial traits…

This observational study aims to find biological markers (biomarkers) for RAI1-related disorders, including Smith-Magenis and Potocki-Lupski syndromes. Researchers will study 90 participants through clinical exams, blood tests, optional skin biopsies, and sleep studies. The goal …

This study looks at people with creatine transporter deficiency, a rare genetic condition that causes intellectual disability, seizures, and movement problems. Researchers want to find the best tests to measure symptoms, since many standard tests are too hard for these patients. …

This study looks at how common tooth staining is in children who had very high bilirubin levels (jaundice) early in life. Researchers will check 120 children with certain liver conditions to see if their teeth are discolored and whether that affects their daily life. The goal is …

This research study aims to learn more about children born with small or missing eyes (Microphthalmia, Anophthalmia, and Coloboma, or MAC) and how genetic changes may cause these conditions. Researchers will collect medical histories, saliva, and blood samples, and perform physic…

This study creates a Canadian registry for children under 18 with Alagille syndrome or genetic intrahepatic cholestasis, rare liver conditions that cause bile buildup. Researchers will collect health data from medical records over time to understand how these diseases progress an…

This pilot study aims to see if using five gene signatures from a patient's tumor can help doctors choose the best first chemotherapy for advanced pancreatic cancer. About 85 people with metastatic pancreatic cancer will have their tumor genes analyzed to pick between two standar…

This study looks at how a traumatic brain injury (TBI) can lead to heart problems like irregular heartbeat or heart failure. Researchers will use MRI scans to see if damage to certain brain areas disrupts the network that controls the heart. By studying 90 people with mild to mod…

This study aims to find genetic mutations in the brain that cause drug-resistant epilepsy in children. Researchers will compare DNA from blood and brain tissue, including samples from special electrodes placed in the brain. The goal is to better understand the root causes of thes…

This study aims to find the genes and DNA changes that cause cherubism, a rare condition that affects the jaw bones. Researchers will study blood and tissue samples from up to 600 people, including patients and their family members. The long-term goal is to understand the disease…

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

This study looks at how a 2-week, personalized therapy program helps children aged 4-12 with conditions like cerebral palsy, autism, or genetic disorders. Kids get about 2.5 hours of tailored therapy each day, focusing on skills like movement, attention, and communication. The go…

This study aims to learn more about abnormal development of the face, head, and neck by comparing people with these conditions to their family members and healthy volunteers. Researchers will collect medical history, perform exams, take 3D images, and analyze genetic samples from…

This study aims to create a collection of blood and urine samples from 100 people with Noonan syndrome. Researchers will use these samples to study how the disease works and look for factors that predict how it will progress. The study does not test any treatment, but may help gu…

This study looks at whether orthodontic treatments like Twin Block and Hyrax appliances can improve breathing in children aged 8-14 with small jaws and narrow upper airways. Researchers will use 3D scans to measure changes in airway shape and airflow. The goal is to understand if…

This study looks back at the past 10 years to understand how a life-support machine called ECMO has been used in children across China. Researchers will gather information from 500 children, from newborns to 18-year-olds, to see how many survive after treatment, how long they nee…

This study looks at cholesterol and blood sugar levels in 200 people with Noonan syndrome and related conditions, aged 2 to 35. Researchers want to see if these levels differ by age, gender, or genetic type. The goal is to improve long-term care by identifying who might be at hig…

This study is monitoring 50 children in Japan with Alagille syndrome (ALGS) or progressive familial intrahepatic cholestasis (PFIC) who are taking the drug Livmarli (maralixibat). Researchers are using a national registry to track how many children develop liver problems and how …

This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

This study follows 800 children born with eye malformations like microphthalmia, anophthalmia, aniridia, or anterior segment defects. Researchers will track their vision, brain development, and overall health for up to 10 years to better predict outcomes. No new treatments are be…

This study aims to find genes that cause eye misalignment (strabismus) and related conditions involving the cranial nerves and brainstem. Researchers will analyze DNA from up to 20,000 participants with these disorders. The goal is to better understand the genetic causes, which c…

This study looks at psychiatric symptoms in people with White-Sutton syndrome, a rare genetic condition. Researchers will interview 30 children and adults and use standard questionnaires to identify anxiety, OCD, autism, and other issues. The goal is to better understand these sy…

This study is testing advanced heart MRI scans to better diagnose and predict risks for people with rare heart muscle diseases. Researchers will scan 1000 participants to see if these new imaging methods can identify conditions like Fabry disease and cardiac amyloidosis more accu…

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

This study collects information from people with ASXL-related disorders (such as Bohring-Opitz syndrome) to better understand how these conditions progress and are managed. No new treatments are tested; instead, participants share their medical history and records through surveys…

This study looks at how well pelvic organs move in women with endometriosis using dynamic MRI. Researchers want to see if measuring this movement can help diagnose the disease better and explain why some treatments don't work. About 52 women with suspected endometriosis will take…

This study looks at how things in your environment—like pollution, chemicals, diet, and sleep—might affect your hormones and reproductive health. Researchers will follow 300 people aged 8 and older who have conditions like low or high hormone levels, early or late puberty, or inf…

This study is collecting blood, tissue, and medical information from up to 1,000 people with RASopathies—a group of genetic conditions that affect development and raise cancer risk. Researchers will store these samples and data in a database for future studies. The goal is to lea…

This study checks whether an artificial intelligence (AI) system trained on Turkish patients can accurately diagnose jaw and bite problems in people from other ethnic backgrounds. Researchers will compare the AI's performance on 5,000 patients from Turkey and Belgium using photos…

This observational study tests a new device (eMyosound LYRA) that uses sound waves to measure stiffness in the heart and liver. Researchers will compare 150 people—some with heart failure, some with a rare heart condition called ATTR-CM, and some healthy volunteers. The goal is t…

This study creates a registry to collect health information from 200 people with rare forms of primordial dwarfism, such as MOPDII and Meier-Gorlin syndrome. Researchers hope to learn how these conditions change over a person's lifetime and improve future care. Participants provi…

The Dragonfly study is an international observational project tracking the development of 250 children and adults with CTNNB1 neurodevelopmental syndrome. Researchers will collect medical history, perform neurological exams, and use questionnaires to understand how symptoms and a…

This study looks at how blood flow and metabolism affect brain development in children with sickle cell anemia. Researchers will use MRI scans and a special mask to have participants breathe carbon dioxide, which helps measure how well brain blood vessels expand. The goal is to u…

This study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…