Developmental defect during embryogenesis

This study will follow 30 people with Alagille syndrome who are taking odevixibat in their daily lives. The goal is to see how safe the drug is over the long term by tracking any side effects. It is not testing if the drug works, but rather monitoring its real-world safety.

This study tests whether a sugar called D-galactose (AVTX-801) can help people with SLC35A2-CDG, a rare inherited disorder that disrupts how the body adds sugar to proteins. The trial enrolls about 10 people of any age who have seizures or chronic digestive issues. Participants r…

This study tests a drug called mitapivat in children aged 1 to 17 with alpha- or beta-thalassemia who need regular blood transfusions. The goal is to see if mitapivat can reduce the number of transfusions needed compared to a placebo. The study involves 54 participants and lasts …

This study tests whether a fluorescent dye called 5-ALA can help surgeons see and remove abnormal brain tissue in people with drug-resistant epilepsy caused by focal cortical dysplasia (FCD). FCD lesions are often hard to distinguish from healthy brain during surgery, making comp…

This early-phase trial tests whether giving healthy stem cells from the mother to a fetus diagnosed with Fanconi anemia can safely improve the baby's blood cell production. The treatment is a one-time injection into the fetus during pregnancy. The study will enroll 12 pregnant wo…

This early-stage trial tests a new drug called JR-446 in 12 children under 6 with MPS IIIB, a rare genetic disorder that damages the brain and body. The main goal is to see if the drug is safe and tolerable. Researchers will also measure changes in certain substances in the body …

This study tests whether adding brain-challenging exercises (like reacting to lights while moving) to standard physical therapy helps people recover better after shoulder stabilization surgery. Thirty-two adults who had surgery for shoulder instability will be randomly assigned t…

This study tests an experimental drug called ATV-1601 in people with moderate to severe HHT, a condition that causes frequent nosebleeds and anemia. The trial has two parts: first, participants receive either the drug or a placebo to check safety and effectiveness; then, all elig…

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 an oral drug called glycerol tributyrate in 24 adults with MELAS or LHON-Plus, two rare mitochondrial diseases that cause severe symptoms like strokes and vision loss. The trial is open-label (everyone gets the drug) and uses each person as their own control over…

This phase 3 study tests a new weekly growth hormone injection (inpegsomatropin) against an existing one (givopegsomatropin) in 84 girls with Turner syndrome who have short stature. The goal is to see which works better for increasing growth over 52 weeks. Participants are prepub…

This study tests a new tool called the Snouda Metabolic Score (SMS) that helps doctors identify the specific metabolic problems driving Type 2 Diabetes in each patient. 150 adults will follow a personalized 24-week lifestyle and nutrition plan based on their SMS results. The goal…

This study will review medical records and call patients who received AGN1 LOEP, a device injected into the hip bone to treat osteoporosis. Researchers want to see how many patients later had hip fractures and whether any side effects occurred. The goal is to understand how well …

This study tests whether a structured 12-week program focusing on nutrition, exercise, sleep, and stress management can improve fatigue, physical function, and quality of life in people with relapsing-remitting multiple sclerosis. Thirty participants will first be observed for 12…

This phase 3 trial tests a drug called tralesinidase alfa in 14 children aged 1-5 with Sanfilippo syndrome type B, a rare genetic disease that causes severe brain damage. The drug is given directly into the brain fluid to replace a missing enzyme. The goal is to see if it can slo…

This study tests a daily injection called elamipretide in 48 people with genetically confirmed Barth syndrome, a rare condition that causes muscle weakness and heart problems. Participants will receive either the drug or a placebo for 72 weeks. The main goal is to see if the drug…

This early-stage study aims to develop a personalized treatment for children with syndromic craniosynostosis, a group of rare genetic disorders where skull bones fuse too early. The approach uses a nano-engineered gel to deliver custom genetic medicine directly to the affected ar…

This phase 2 trial tests a combination of two drugs (Benmelstobart and Anlotinib) plus targeted radiation (SBRT) in 29 adults with liver cancer that has spread to a few other spots and no longer responds to first-line treatment. The goal is to see if this triple therapy can slow …

This early-stage trial tests a single dose of a gene therapy called DANAGALEX in 9 adults and children with aspartylglucosaminuria (AGU), a rare genetic disorder. The goal is to see if the treatment is safe and can reduce harmful substances in the body. Researchers will monitor s…

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 is for people who completed a previous trial of KL1333 (napazimone) for primary mitochondrial disease. It will test the drug's long-term safety and whether it helps with fatigue and daily activities. About 140 participants will take the pill twice daily for an extended…

This trial compares two surgical procedures for children aged 5 to 10 with relapsed clubfoot and a specific foot deformity called metatarsal adductus. One surgery involves cutting and realigning the midfoot bones, followed by 6 weeks in a cast. The other uses a small plate to gui…

This phase 2 trial tests the drug setmelanotide in one person with pseudohypoparathyroidism type 1a (PHP1a), a rare genetic disorder that often causes severe obesity. The participant will receive daily injections of setmelanotide for six months to see if it leads to weight loss a…

This study compares the Invisalign Palatal Expander (IPE) with the Rapid Palatal Expander (RPE) in children aged 8–12 who have a narrow upper jaw and an underbite (skeletal Class III). Participants will wear a facemask after expansion. Researchers use 3D X-rays to measure changes…

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 study tests whether a person's own stem cells, processed and given by IV, can safely help with multiple system atrophy (MSA) — a rare, worsening brain disease that affects movement and automatic body functions like blood pressure. Fifty adults aged 35 to 65 will receive eith…

This early-stage trial tests whether two cancer drugs, cabozantinib and selumetinib, can safely shrink plexiform neurofibromas in people aged 16 and older with neurofibromatosis type 1 (NF1). About 30 participants will receive the combination daily. The study first finds the safe…

This study tests whether a 10-day course of oral amoxicillin works as well as a single injected dose of penicillin to treat congenital syphilis in newborns up to 30 days old. About 374 infants across 12 U.S. sites will be randomly assigned to one of the two treatments. The goal i…

This study compares a 4-month course of antiviral medication (ganciclovir or valganciclovir) against the standard 6-month course for babies born with moderate-to-severe congenital CMV infection. The goal is to see if the shorter treatment works just as well at preventing long-ter…

This study follows 75 adults with Fabry disease who are taking or starting pegunigalsidase alfa to see how well it works and how safe it is over time in real-world settings. Researchers will check heart structure and function, kidney health, and exercise capacity. The goal is to …

This early-phase trial tests a combination of three drugs—selumetinib, ZEN-3694, and durvalumab—in people with advanced sarcomas, including malignant peripheral nerve sheath tumors (MPNST) linked to NF1. The study first checks safety and dosing, then looks at whether the treatmen…

This study will test whether using two OSIA bone conduction implants (one on each side) helps children with severe ear malformations hear better in noisy places compared to using just one implant. Twelve children aged 7 to 17 who already use a bone conduction device will receive …

This study tests whether one or two doses of ripertamab can help children aged 16 and older who have frequent relapses or steroid-dependent nephrotic syndrome. The goal is to see which dose works better at preventing relapses and reducing the need for steroids. The trial will enr…

This study compares two ways to correct an underbite (Class III malocclusion) in children whose jaws are still growing. One method uses a facemask attached to a tooth-borne expander, while the other uses a chin-plate anchored to the bone with small screws. Researchers will measur…

This trial tests two ways of giving estrogen to girls and young women with Turner syndrome to help them start puberty. Participants will be randomly assigned to use either an estrogen gel applied to the skin or an estrogen tablet taken by mouth for 19 months. The study will compa…

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 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 early-stage trial tests an oral drug called SVG103 (Paxalisib) in 15 adults with rare brain conditions (FCD-II, TSC, or HME) that cause seizures. The main goal is to check safety and side effects, while also seeing if it reduces seizure frequency. Participants take the drug …

This Phase 3 trial tests an oral drug called KP-001 in 150 people aged 2 and older with venous malformations, lymphatic malformations, or KTS/CLOVES syndrome. Participants receive either KP-001 or a placebo for 24 weeks, then everyone gets the drug for another 28 weeks. The goal …

This early study tests whether high-dose vitamin B3 (nicotinamide) can help preserve or improve vision in people with Leber's hereditary optic neuropathy (LHON), a rare genetic disease that causes sudden vision loss. Researchers will give 13 participants 2 grams of vitamin B3 dai…

This study tests a new CPR method called Bio-CPR, which synchronizes chest compressions with ventilation using a machine. Researchers will compare it to standard CPR in 408 adults who have a witnessed cardiac arrest. The goal is to see if this coordinated approach improves breath…

This pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…

People with Fanconi anaemia have a high risk of developing oral cancer, but standard biopsies are painful and risky due to their genetic sensitivity. This study tests a non-invasive oral brushing technique to detect early cancer cells in 115 patients aged 15 and older. If accurat…

Syphilis affects about 1 in 25 pregnant women in Uganda and can harm both mother and baby if untreated. This study will test a new rapid test that gives results in 10 minutes, comparing it to standard lab tests that take hours or days. Researchers will enroll 24 mothers and their…

This study looks at newborn boys with posterior urethral valves (PUV), a rare birth defect that raises the risk of serious kidney infections. It compares circumcision alone versus circumcision plus daily antibiotics to see if the surgery alone is enough to prevent these infection…

This study tests whether sending text messages or voice call reminders with helpful behavior change tips can improve how many babies get their full set of vaccines on time. About 7,800 caregivers of newborns in Bangladesh will be split into three groups: one gets no reminders, on…

This study tests whether a 40-minute hands-on breastfeeding class during the third trimester can prevent sore nipples and breast engorgement in first-time mothers. 100 pregnant women will be split into two groups: one gets the class plus an e-booklet, the other gets only the e-bo…

This study compares two ways to break up kidney stones using a laser and a suction device. One method turns stones into dust, the other into small fragments. The goal is to see which leaves fewer stone pieces behind after one month. About 86 adults with small kidney stones will t…

This study tests whether a 12-week program of hamstring strengthening exercises can reduce knee looseness and pain in people with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD). Twenty participants will attend two supervised exercise classes p…

This study compares two types of IV catheters in 104 newborns with congenital syphilis who need 10 days of antibiotics. One group gets a standard short catheter, the other a longer catheter placed using ultrasound by a specialized nurse. The goal is to see which lasts longer and …

This study tests whether adding Kinesio Taping (a special elastic tape) to standard hand therapy can improve movement and strength after extensor tendon repair. About 36 adults with a specific finger tendon injury will be randomly assigned to get either real tape or a fake tape, …

This study tests a topical serum called AGE serum on 50 post-menopausal women (ages 45-65) who are taking GLP-1 drugs like Ozempic or Wegovy, with half also on hormone therapy. The goal is to see if the serum safely improves skin firmness, fine lines, and radiance. Researchers wi…

This study tests whether electroacupuncture (mild electrical pulses through thin needles) can help patients whose stomachs stop working properly after surgery for digestive tract tumors. Seventy-six adults who had such surgery and developed gastroparesis (stomach paralysis) will …

This study tests a treatment called Juläine™, which is injected into the buttocks to improve skin looseness. About 100 adults with mild to moderate skin sagging will take part. Some get treatment right away, others wait a few months. The main goal is to see if skin elasticity imp…

This study tests whether a special nanodiamond cream (Pavise ECMR) helps the skin heal better after facial laser treatment for wrinkles and loose skin. Eight adults aged 35-70 will receive the cream on one side of their face and standard care on the other. Researchers will check …

This pilot study tests whether N-acetylcysteine (NAC), an antioxidant supplement, can reduce repetitive and self-injurious behaviors in people with Cornelia de Lange syndrome (CdLS). Ten participants aged 13–35 will receive both NAC and a placebo in random order over 18 weeks. Th…

This study tests if injecting a sugar-water solution into the lower back, guided by ultrasound, can safely reduce chronic pain in people with hypermobile Ehlers-Danlos syndrome (hEDS). About 40 adults with hEDS and low back pain will receive the injections and report their pain l…

This study aims to see if online speech therapy works as well as face-to-face sessions for children aged 5 to 11 with repaired cleft palate. Sixty-four children will receive 30-minute speech therapy twice a week for 10 weeks, either online or in person. Researchers will measure i…

This early trial tests an injectable collagen-based product called MEC REGENERATE® in 20 adults aged 35–65 with skin laxity, mid-face volume loss, or wrinkles. Participants receive a single injection session, and researchers check safety and skin hydration after 60 days. The goal…

This study looks at whether custom-made shoes can improve walking quality in people who have had a stroke and still have trouble walking due to muscle tightness and foot dragging. About 58 adults who had a stroke at least 6 months ago will wear adapted shoes and be tested on how …

This study tests a new robotic surgery to remove excess breast gland tissue in men with gynecomastia (enlarged breasts). Twenty men aged 18-75 who have had breast enlargement for over a year and haven't responded to medication will undergo single-port robotic-assisted surgery. Th…

This study tests an experimental drug called BMB-101 in 16 adults with Prader-Willi syndrome who struggle with severe, constant hunger. The trial is double-blind and placebo-controlled, meaning some participants get the drug and some get a dummy treatment, and neither they nor th…

This study will compare different surgical techniques for treating severe gynecomastia (enlarged male breasts) in 45 men aged 18-60. The goal is to see which method gives the best cosmetic results and highest patient satisfaction. Participants will be randomly assigned to one of …

This study tests a special laser to safely lift eyebrows, tighten loose skin under the chin, and reduce wrinkles on the face and jawline. About 40 adults aged 45 to 85 with mild to moderate skin sagging will receive up to three treatments. The goal is to see if the laser can impr…

This study tests a new way to inject poly-L-lactic acid (PLLA) into the jawline to treat sagging skin from aging. Twenty adults aged 18 to 65 will receive up to three injections over two months. The goal is to see if this technique safely improves facial contour without surgery.

This phase 2 trial tests whether injecting a hyaluronic acid filler (Skinvive) into the cheeks can improve skin quality in people taking GLP-1 weight loss medications. 24 women aged 25-50 will participate: 16 on GLP-1 drugs and 8 not on them. Researchers will measure changes in f…

This study tests a topical serum (AGE serum) to see if it safely improves visible signs of aging like fine lines, sagging, and dullness on the face and neck. It involves 25 non-menopausal adults aged 25-50 who have been taking GLP-1 agonist medications (such as Ozempic or Wegovy)…

This study tests whether teaching speech and language skills to infants with unrepaired cleft palate can improve their communication before palate repair surgery. Two hundred infants aged 6 to 10 months will join weekly coaching sessions with their families. The goal is to see if…

This study tests whether Sculptra, a cosmetic injectable, can improve loose skin on the belly in people taking GLP-1 weight loss medications. Twenty women with mild to moderate skin laxity will receive Sculptra injections. Fifteen are on GLP-1 drugs, and five are not, to compare …

This study looks at whether electrical pudendal nerve stimulation (EPNS), delivered through thin needles near the tailbone, can improve bladder function in children who have nerve-related bladder issues after tethered cord surgery. Fifty children will receive EPNS three times a w…

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 study examines how a type of immune cell called gamma delta T cells adapt and function in critically ill patients, both with and without sepsis. Researchers will compare these cells in healthy people, non-septic ICU patients, and septic ICU patients. The goal is to understan…

This study will take 3D scans of the inside of the mouth from 240 people with rare bone or cartilage diseases and from healthy volunteers. Researchers will use shape analysis and artificial intelligence to see if these scans can help tell different diseases apart. The goal is to …

This study will follow 100 health science students for at least 10 years to understand why some people with very flexible joints (hypermobility) develop chronic pain, fatigue, and other health issues while others do not. Researchers will measure balance, heart rate, and quality o…

This study observes 150 infants and toddlers having cleft lip or palate repair to understand how often breathing complications occur and what factors increase risk. Researchers will use standard airway scoring tools to see if they can predict problems like laryngospasm or low oxy…

This study looks at babies with a common type of birthmark (infantile hemangioma) on the lower back, bottom, or genital area. The goal is to find the best size cutoff for the birthmark to decide which babies should be screened for LUMBAR syndrome, a condition that can involve hid…

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 looks at how aging changes tiny parts of our cells called mitochondria, which produce energy. Researchers will take small skin samples and blood from 90 healthy adults aged 18-90 to measure inflammation and cell aging markers. The goal is to better understand why we ag…

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 will interview 35 adults in Sweden who have Fabry disease but are not yet receiving treatment. The goal is to learn how they experience their quality of life, daily activities, and healthcare support. By listening to patients' own stories, researchers hope to identify …

This study looks at how abnormal proteins, like alpha-synuclein and tau, build up and affect brain function in people with Parkinson's disease. Researchers will use brain scans, blood tests, and skin biopsies to track these changes. The goal is to find better ways to diagnose and…

This study aims to find out how often exocrine pancreatic insufficiency (EPI) occurs in people with Alagille syndrome who have had a liver transplant. About 30 participants aged 7 to 50 will eat a high-fat diet and collect stool samples for lab testing. The results will help doct…

This pilot study will test whether a daily 30-minute Tao Calligraphy mindfulness practice can increase mitochondrial DNA content in blood cells over 12 months. Fifty healthy or ill adults (excluding those with genetic diseases, cancer, or serious mental disorders) will provide bl…

This study will compare custom 3D printed splints made at the hospital with those made by outside companies for jaw surgery. The splints help surgeons align the teeth and jaws correctly during the operation. Researchers want to see if the in-house splints are faster to get, cheap…

This study will use MRI scans to see how well the palate and throat muscles work after a special surgery for cleft palate repair. The surgery uses a piece of cheek muscle to close the gap and aims to improve speech. Ten people who have not had early treatment will get the surgery…

This study aims to better understand a condition called multilocus imprinting disorder (MLID), where multiple genes are affected by abnormal chemical marks. Researchers will test a new technique to detect these marks in 96 people, including those with known imprinting disorders a…

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 will survey 200 adults with Fabry disease to understand how men and women experience different paths to diagnosis. Researchers want to see if symptoms or family screening lead to diagnosis more often in one sex, and how long diagnosis takes. The goal is to identify pat…

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 study will use ultrasound to measure the distance between the Achilles tendon and nearby nerves and blood vessels in both feet of 40 infants with unilateral clubfoot. By comparing the clubfoot to the normal foot, researchers hope to give surgeons better guidance to avoid acc…

This study aims to create a physical activity and sedentary behaviour program tailored for adults with mucopolysaccharidosis (MPS). Researchers will gather input from patients, doctors, nurses, and family members through interviews, focus groups, and workshops. The goal is to des…

This study follows 30 women with postpartum abdominal wall insufficiency syndrome (PPAWIS) to understand how the condition affects their quality of life, body image, and sexual function. Participants will fill out surveys at the start and during follow-up while receiving their us…

This study aims to better understand pain in people with a rare genetic form of arthrogryposis (stiff joints) caused by a PIEZO2 mutation. About 12 participants aged 10 and older will track their pain daily for two weeks using simple questionnaires and body charts. No drugs or tr…

This study will test a special PET scan tracer and blood tests to better understand and predict heart damage in people with Fabry disease. Researchers will look at heart tissue samples and blood markers from 20 adult patients. The goal is to find new ways to diagnose and forecast…

This study aims to find biological markers (biomarkers) in blood, tears, and eye cells from 110 adults with seven rare eye diseases. Researchers will compare these markers between patients and healthy controls to see if they differ and if they relate to disease symptoms. The goal…

This study looks at children with spinal dysraphism, a birth defect where the spine doesn't close properly. The goal is to better understand bladder and bowel problems in these children, especially those with less obvious forms. By studying 210 children treated at one hospital ov…

This study looks at why people with Noonan syndrome often bleed easily, especially from the skin, mouth, or nose. Researchers will compare a simple questionnaire about bleeding history with blood tests in 100 patients. The goal is to find better ways to predict serious bleeding, …

This study compares two established techniques for placing a TAVI heart valve to see which one better aligns the valve with the patient's own valve openings, reducing the risk of blocking coronary arteries. Forty patients with severe aortic stenosis will be randomly assigned to o…

This study looks at whether measuring IL-6 and lactate in cord blood can detect early signs of infection or inflammation in full-term newborns. Researchers will compare 160 women whose fetal heart rate patterns suggest possible inflammation with those whose patterns are normal. I…

This study will look at 30 teens aged 12-20 with thoracic adolescent idiopathic scoliosis to see if the type of spinal curve affects their breathing, exercise ability, and sleep quality. Participants will be grouped by curve pattern (T-type or TL-type) and undergo standard tests …

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 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…