Classic galactosemia

This study tests a new type of stem cell transplant for children with primary immune deficiencies or inherited metabolic disorders. The transplant uses stem cells from a half-matched family donor, which are specially processed to remove certain immune cells. The goal is to see if…

This study tests whether Fertilo, a new solution for maturing eggs outside the body, works better than the current standard (MediCult IVM) for women aged 18-35 undergoing IVF. About 500 participants will have their eggs treated with either Fertilo or MediCult, and researchers wil…

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This study tests whether adding a hormone drug called Decapeptyl to standard IVF treatments can increase the number of live births. About 784 women under 43 with subfertility will receive either the drug or a placebo during egg retrieval and embryo transfer. The goal is to see if…

This study tests whether a cheaper hormone (dydrogesterone) works as well as a standard drug (GnRH antagonist) to prevent early ovulation in women with low ovarian response undergoing double ovarian stimulation. About 120 women will be randomly assigned to one of the two treatmen…

This phase 3 trial compares two ways to prepare the womb lining for a frozen embryo transfer: a modified natural cycle using progesterone only, versus standard hormone replacement therapy. The study will enroll 336 women aged 21-44 with regular cycles to see which method leads to…

This study tests whether a probiotic called Fertibiome can help restore a healthy balance of bacteria in the vagina for women or couples having trouble getting pregnant. About 120 participants will take either the probiotic or a placebo for up to 6 months. The goal is to see if t…

This study tests whether using special devices during embryo transfer can help more IVF patients get pregnant. The devices keep the embryo at the right temperature and control the transfer process to reduce human error. About 160 women having frozen embryo transfers will be rando…

This Phase 2 trial is testing whether a fixed dose of the hormone follitropin delta (Rekovelle) can improve ovarian stimulation for intrauterine insemination (IUI) in women with regular cycles. The goal is to promote the growth of two mature eggs per cycle to increase pregnancy c…

This phase 3 trial tests whether a lower daily dose (600 mg) of vaginal progesterone works as well as the standard dose (800 mg) for supporting pregnancy after a frozen embryo transfer. About 1,020 women undergoing IVF will be randomly assigned to one of the two doses. The main g…

This study tests whether treating eggs and sperm before fertilization can help people who have had complete failure with standard IVF or one prior ICSI cycle. Researchers will measure fertilization rates and embryo development. The goal is to improve chances of pregnancy for thos…

This program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

This study tests whether atosiban, a drug that relaxes the womb, can improve live birth rates in women who have had previous IVF failures and have abnormal womb contractions. About 792 women aged 20-40 will receive either atosiban or a placebo before a single embryo transfer. The…

This study compares two embryo transfer liquids—one with a high amount of hyaluronic acid (a natural 'sticky' substance) and one with a low amount—to see which leads to more live births. About 858 women having a single embryo transfer will take part. The goal is to find out if th…

This study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

This study at Necker Hospital in Paris is checking how well patients with inherited metabolic diseases follow their daily oral medication routines. About 200 patients (children aged 7 and up, teens, and adults) will fill out a questionnaire during a regular visit. The goal is to …

This study tests a new ultra-rapid freezing method for embryos (blastocysts) in women receiving donor eggs. The goal is to see if this faster approach is as safe and effective as the standard freezing method. Researchers will compare how many embryos survive thawing and how many …

This study at the National Institutes of Health is looking at 1,000 adults with known or suspected hormone gland (endocrine) disorders. The goal is to better understand these conditions and help train doctors. Participants may receive tests, treatments, or surgery as part of thei…

This study screens people with eye diseases to see if they can join other research studies at the National Eye Institute. No treatment is given. Participants undergo eye exams, blood tests, and other procedures to diagnose or evaluate their condition. The goal is simply to determ…

This study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

This study tests a special camera that takes super-detailed pictures of the back of the eye (the retina). The goal is to see if this technology can find eye diseases earlier than standard methods. Up to 1,000 people aged 12 and older, with or without eye disease, will have their …

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This pilot study uses a special ultrasound technique called shear wave elastography to measure how stiff the uterus, cervix, and ovaries are in women with and without fertility problems. Researchers will track changes across the menstrual cycle in 40 women to establish normal ran…

This study aims to learn more about eye diseases by observing and providing standard care to up to 1,000 people over 5 years. Participants receive regular eye exams, tests, and treatments as needed. The goal is to better understand how eye diseases progress and are inherited, not…

This study enrolls adults with known or suspected endocrine (hormone gland) disorders, such as diabetes or thyroid disease, to help researchers learn more about these conditions. Participants will undergo medical exams, blood and imaging tests, and possibly genetic testing. The m…

This study follows 900 couples in Paris who tried preimplantation genetic diagnosis (PGD) to avoid passing on a severe genetic disease but did not have a baby from it. Researchers want to know how many later have a healthy child naturally, through other treatments, or decide to s…

This study compares two sperm collection timings—1 hour versus the usual 2-5 days of abstinence—to see which leads to more embryos with normal chromosomes during IVF. Researchers will track embryo health and pregnancy rates in 187 women. The goal is to find a simple way to improv…

This study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…

This study looks at male factors that influence a couple's chance of getting pregnant. Researchers will compare fertile and subfertile couples to create a fertility index that combines male and female factors to predict pregnancy. The goal is to better understand male reproductiv…

This study is creating a huge collection of ultrasound images from the uterus and ovaries. Researchers will gather scans from 25,000 women, both healthy and with gynecological conditions, during routine checkups. The goal is to build a database that doctors and artificial intelli…

This study follows 60 girls and women with classic galactosemia, a rare genetic condition that affects how the body processes sugar. Researchers want to understand why many develop early ovarian failure and how puberty progresses. By tracking hormone levels and growth, they hope …

This study tests whether artificial intelligence can create simple summaries of eye doctor notes that are easier for patients to understand. About 460 English-speaking adults receiving eye care will get either standard notes or notes plus an AI-generated plain language summary. P…

This study uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

This study is testing a new test called the Aurora test, which uses cells that normally surround the egg (cumulus cells) to help select the best embryo for transfer in IVF. The test is non-invasive and aims to improve pregnancy and live birth rates compared to the standard method…

This study will follow 2,500 Chinese women who are prescribed REKOVELLE for the first time during IVF or ICSI treatments. Researchers will track how the drug is used in routine practice, its effectiveness (including live birth rates), and any side effects. The goal is to understa…

This study tests a new 4D microscope-integrated OCT system for the first time in people during eye surgery. Researchers want to see if the system is easy to use, safe, and can clearly show eye structures. Five adults having eye surgery will take part. The goal is to improve imagi…

This study is testing whether an artificial intelligence tool can analyze 3D ultrasound images of the ovaries to better predict how well a woman will respond to fertility treatments like IVF. Researchers will enroll about 4,000 patients undergoing ovarian stimulation. The goal is…

This study gathers standard eye movement and pupil data from 200 healthy volunteers, children, and people with eye or brain conditions using a VR headset called neos™. The headset shows images and tracks where participants look, how their pupils react, and how their eyes move. Th…

This study tests whether a new automated system can freeze human eggs and embryos as effectively as the current manual method. Researchers will compare survival rates after thawing between the two methods using surplus eggs and embryos from 125 IVF patients. If successful, automa…

This study looks at how often young children (ages 1 to 6) with inherited metabolic diseases develop eating disorders when they are on special diets. Researchers will use a feeding scale to measure eating problems in 200 children. The goal is to understand the link between these …

This study tests a new, more comfortable eye camera (WiSLO) designed for children and adults. Researchers want to see if it takes better pictures and is less bothersome than current cameras. About 42 people with or without eye disease will have their eyes photographed with both t…

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

This study looks at whether levels of Anti-Müllerian hormone (AMH) in the fluid around a woman's eggs can predict if an embryo has the right number of chromosomes. Researchers will collect fluid from one follicle in each ovary during egg retrieval in 300 women undergoing IVF. The…

This study looks at whether doing a laser-assisted hatching procedure on Day 3 or Day 5 of embryo growth changes the genetic test results in IVF. About 200 people having IVF with genetic testing will take part. The goal is to see if timing affects embryo health and the accuracy o…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…