Martsolf syndrome 1

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 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 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 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 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 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 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 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 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…

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…