Ataxia telangiectasia

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 early-stage trial tests a drug called atipeksen for people with Ataxia-Telangiectasia (A-T), a rare genetic disease that affects movement and coordination. The drug is designed to fix a specific genetic error in the ATM gene and is given via spinal injection. The study will …

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 program provides an experimental drug, levacetylleucine, to people with Ataxia-Telangiectasia (A-T), a rare genetic disease that affects movement and immunity. It is for patients who cannot join clinical trials and have no other good treatment options. The goal is to offer p…

This study looks at whether giving a longer course (10 days instead of 5) or adding another antiviral (remdesivir) to the standard Paxlovid treatment helps immunocompromised people clear COVID-19 faster. About 256 adults with mild or no symptoms will be randomly assigned to diffe…

This study tests a new drug called TCC1727 combined with other medicines (benmelstobart, olaparib, or topotecan) in people with advanced solid tumors, including lung, stomach, endometrial cancer, and melanoma. The goal is to find the safest dose and see if the combination helps s…

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 custom 3D-printed cutlery handles can help people with neurodegenerative diseases eat more independently. 75 patients in rehabilitation care will try handles in different sizes, designed to fit their grip. Researchers will measure changes in eating abilit…

This study is testing a device called ViBandz, which uses small vibrating motors strapped to the body to provide vibration therapy. Researchers want to see if it is easy and comfortable for children with neurological conditions to use at home. The study will involve 30 children a…

This study tests whether combining two types of non-invasive brain stimulation can improve balance and coordination in people with ataxia, a condition that affects movement. Researchers will enroll 30 adults with a confirmed ataxia diagnosis. Participants will receive a combinati…

This study looks at whether adjusting deep brain stimulation (DBS) can improve movement, speech, and swallowing in people already implanted with DBS for conditions like tremor, stroke, or traumatic brain injury. Researchers will test hand dexterity, grip strength, facial movement…

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 is looking for the genes that cause certain immune system problems. Researchers want to understand why some people get sick and others don't, even in the same family. Up to 5,000 people with immune disorders and their relatives will give blood or cheek cell samples for…

This study aims to learn more about how diseases related to blood clots, the immune system, and blood vessels start and change over time. Researchers will enroll up to 1,000 people aged 5 and older, including those with these conditions, their healthy relatives, and healthy volun…

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 aims to understand the link between genes and symptoms in people with inherited movement disorders. Researchers will study up to 2,500 participants, including patients and their family members, to identify new disease-causing genes and improve diagnosis. The goal is to…

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 natural history study is collecting information from up to 4,000 people with movement disorders (like Parkinson's disease or tremor) and their family members. Participants undergo exams, blood tests, and imaging, but receive no new treatments. The goal is to gather data that…

This study aims to find the genetic causes of movement disorders and dementias by analyzing DNA from up to 12,000 participants, including patients and their family members. Researchers will collect blood or saliva samples and look for gene mutations linked to these conditions. Th…

This study looks for better ways to detect lung inflammation and infections early in people who have received a stem cell transplant from a donor. About 40 participants aged 5 to 70 will get regular lung scans, breathing tests, blood draws, and a procedure where a tube collects f…

This study is gathering medical information and samples from up to 5,000 people with neurosurgical conditions like brain tumors, epilepsy, and Parkinson's disease. Participants receive standard care while their data is collected for future research. No new treatments are being te…

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 looks at how well vaccines against respiratory viruses (like flu or COVID-19) work in people with weakened immune systems, including those with blood cancers. Researchers will measure both antibody and T cell responses after vaccination. The goal is to understand why v…

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 explores whether a non-invasive brain-computer interface (BCI) can help people with motor disorders, such as spinal cord injury or stroke, control assistive devices using their thoughts. Researchers will record brain signals with EEG and use machine learning to interpr…

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 gathers basic health information from 2000 people receiving stem cell transplants for blood cancers or immune disorders. The goal is to track survival and complications to help doctors and researchers improve future treatments. Participants must be getting a standard t…

This study looks at people with brain damage from strokes, tumors, or other conditions to understand why they have specific thinking problems. Researchers will use brain scans and cognitive tests to link brain areas to deficits. The goal is to learn more about how the brain works…

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 shared database of children who have received deep brain stimulation (DBS) for movement disorders like dystonia, epilepsy, or Tourette syndrome. By pooling data from multiple hospitals, researchers hope to answer key questions about who benefits most and …

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 gathers medical information from 200 adults with possible nerve, muscle, or autonomic nervous system disorders who are not already in other NIH studies. Participants undergo standard tests like nerve conduction studies, EMG, and physical exams. The data is stored anony…

This study is creating a large registry of 800 people receiving biologic medications for immune conditions like autoimmune diseases and primary immune deficiencies. Researchers will collect blood samples and health data to better understand how these treatments work and who respo…

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 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 is looking at how people with conditions like schizophrenia, bipolar disorder, depression, and neurological diseases (such as Alzheimer's or stroke) perform on computer-based thinking tests. The goal is to create a detailed map of cognitive strengths and weaknesses acr…

This study aims to translate the Hypertonia Assessment Tool (HAT) into Turkish and check if it works correctly. The HAT helps doctors identify different types of increased muscle tone in children with motor disorders. Researchers will test the tool on 70 children under 18 who hav…

This study looks at whether using a swallow gel or a semi-solid vehicle can help people with neurological conditions swallow pills more easily and safely. Researchers will observe 500 participants, including patients with swallowing disorders and healthy volunteers, as they swall…

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 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…