Microcephaly and chorioretinopathy 1
MONDO:0009624An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.
Also known as: Pseudotoxoplasmosis syndrome, TUBGCP6 microcephaly and chorioretinopathy, autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome, microcephaly and chorioretinopathy 1, microcephaly and chorioretinopathy caused by mutation in TUBGCP6, microcephaly and chorioretinopathy type 1, microcephaly and chorioretinopathy, autosomal recessive, type 1, MCCRP1
70 clinical trials for this condition and its sub-types.
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Could stem cells restore sight in damaged eyes?
Disease control Recruiting nowThis study tests whether injecting a person's own bone marrow stem cells into or near the eye can help treat various retinal and optic nerve diseases, including age-related macular degeneration, retinitis pigmentosa, and glaucoma. Participants receive stem cell injections via dif…
Phase: NA • Sponsor: MD Stem Cells • Aim: Disease control
Last updated Jul 01, 2026 00:00 UTC
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Bionic eye implant aims to bring back central sight in rare vision loss
Disease control Recruiting nowThis study tests a device called PRIMA, which is implanted under the retina to help people with inherited retinal diseases like Stargardt disease and retinitis pigmentosa see better. The trial will enroll 5 adults with severe central vision loss and measure improvements in visual…
Phase: NA • Sponsor: Science Corporation • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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New PET tracer aims to reveal hidden inflammation in cancer patients
Diagnosis Recruiting nowThis early-stage study tests a new imaging agent called 18F-4FN for PET scans to safely detect inflammation in the body. It involves 55 adults with cancer who are on immunotherapy or have suspected inflammation. The goal is to see if this agent can highlight areas of inflammation…
Phase: PHASE1 • Sponsor: M.D. Anderson Cancer Center • Aim: Diagnosis
Last updated Jun 27, 2026 12:36 UTC
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New eye scanner tested against gold standard for retina diagnosis
Diagnosis Recruiting nowThis study tests a new eye imaging device (VG200D OCT) that takes detailed pictures of the retina. It compares these images to standard dye-based images (FA/ICGA) to see if the new device works just as well. About 30 adults with retina problems will take part. The goal is to see …
Sponsor: Intalight, Inc • Aim: Diagnosis
Last updated Jun 27, 2026 12:29 UTC
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Super camera could catch eye diseases before they steal your sight
Diagnosis Recruiting nowThis study tests a special camera that takes detailed images of the retina using many wavelengths of light. Researchers hope it can find early signs of eye diseases like age-related macular degeneration, diabetic retinopathy, and glaucoma. About 1,000 adults in Melbourne, Austral…
Phase: NA • Sponsor: Center for Eye Research Australia • Aim: Diagnosis
Last updated Jun 27, 2026 12:24 UTC
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New eye scanner could sharpen diagnosis of glaucoma and retina diseases
Diagnosis Recruiting nowThis study is testing a new eye imaging device called the VG200D, which uses advanced technology to take detailed pictures of the eye. Researchers want to see if it works as well as a standard device for measuring parts of the eye in people with glaucoma, retina problems, corneal…
Sponsor: Intalight, Inc • Aim: Diagnosis
Last updated Jun 27, 2026 08:12 UTC
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Can talk therapy boost the benefits of low vision aids for people with inherited eye diseases?
Symptom relief Recruiting nowThis study tests whether adding emotional regulation therapy (ERT) to standard low vision rehabilitation (LVR) helps people with inherited retinal diseases who feel anxious or distressed about their vision. About 180 participants will receive LVR, which includes free vision-enhan…
Phase: NA • Sponsor: University of Michigan • Aim: Symptom relief
Last updated Jun 27, 2026 12:00 UTC
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New therapy team aims to help picky eaters with developmental disorders
Symptom relief Recruiting nowThis study tests whether a team of a psychologist, speech therapist, and motor therapist can help children aged 2-7 with neurodevelopmental disorders eat more foods and have fewer mealtime struggles. 24 children will be split into two groups: one gets the team therapy, the other …
Phase: NA • Sponsor: IRCCS San Raffaele Roma • Aim: Symptom relief
Last updated Jun 27, 2026 09:08 UTC
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Kids take the lead: new study lets children with disabilities choose their own therapy goals
Symptom relief Recruiting nowThis study tests a new approach called ENGAGE, where children with disabilities (like autism or cerebral palsy) help set their own therapy goals. About 96 kids aged 5-12 and their therapists will be split into two groups: one using ENGAGE and the other using usual therapy. Resear…
Phase: NA • Sponsor: University of Alberta • Aim: Symptom relief
Last updated Jun 27, 2026 08:08 UTC
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Can coaching parents boost social skills in kids with disabilities?
Symptom relief Recruiting nowThis study tests whether a speech therapy that involves parents can improve early social and communication skills in children aged 6 months to 5 years with neurodevelopmental disabilities. One group gets the parent-focused therapy, while the other gets standard speech therapy. Re…
Phase: NA • Sponsor: IRCCS Eugenio Medea • Aim: Symptom relief
Last updated Jun 27, 2026 07:59 UTC
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Alcoholism drug may boost vision in eye disease patients
Symptom relief Recruiting nowThis study looks at whether disulfiram (Antabuse), a drug used for alcohol use disorder, can improve vision in people with retinal degeneration (like macular degeneration or retinitis pigmentosa). Researchers believe it may calm overactive cells in the retina. The study involves …
Phase: PHASE1 • Sponsor: University of Rochester • Aim: Symptom relief
Last updated Jun 27, 2026 07:52 UTC
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Heart-Brain link: new study tracks hidden disabilities in babies born with heart defects
Knowledge-focused Recruiting nowThis study follows 450 babies born with serious heart defects to find early signs of developmental delays by 6 months of age. Researchers want to understand why over half of these children face learning, thinking, or behavior challenges later in life. The goal is to identify risk…
Sponsor: Nantes University Hospital • Aim: Knowledge-focused
Last updated Jul 03, 2026 00:00 UTC
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Scientists launch eye tissue bank to unlock secrets of retinal disease
Knowledge-focused Recruiting nowThis study is creating a large collection of health information and biological samples (like blood, saliva, and eye tissue) from people with and without retinal diseases. Researchers aim to use this database to better understand conditions like age-related macular degeneration an…
Sponsor: National Eye Institute (NEI) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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Massive study tracks rare eye diseases to pave way for future treatments
Knowledge-focused Recruiting nowThis international study aims to collect genetic and health information from 1,500 people with rare inherited retinal diseases like retinitis pigmentosa. It has two parts: a registry to gather genetic and vision data, and a natural history study that follows participants over tim…
Sponsor: Jaeb Center for Health Research • Aim: Knowledge-focused
Last updated Jun 28, 2026 00:00 UTC
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Eye screening study opens doors to future research
Knowledge-focused Recruiting nowThis 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…
Sponsor: National Eye Institute (NEI) • Aim: Knowledge-focused
Last updated Jun 28, 2026 00:00 UTC
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Massive study seeks families to unlock secrets of childhood brain disorders
Knowledge-focused Recruiting nowThis study aims to learn more about childhood-onset behavioral, psychiatric, and developmental disorders by observing people of all ages who have these conditions, along with their family members. Researchers will collect medical histories, perform psychiatric assessments, and ma…
Sponsor: National Institute of Mental Health (NIMH) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
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New eye camera could catch blindness before it starts
Knowledge-focused Recruiting nowThis 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 …
Sponsor: National Eye Institute (NEI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Brain scans reveal sensory differences in neurodevelopmental disorders
Knowledge-focused Recruiting nowThis study looks at how the brain responds to sensory inputs like sight and sound in 200 children and adults, some with neurodevelopmental disorders (NDD) and some without. Participants will have EEG recordings during sensory tasks, complete behavioral tests, and practice percept…
Sponsor: University Hospital, Tours • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Scientists track Kids' sleep to unlock brain growth secrets
Knowledge-focused Recruiting nowThis study aims to learn how sleep changes as children's brains grow, by collecting sleep and development data from healthy children and those with conditions like autism or ADHD. About 244 children ages 6 months to 8 years will have overnight sleep studies, developmental tests, …
Sponsor: National Institute of Mental Health (NIMH) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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Scientists watch and treat eye diseases to unlock their secrets
Knowledge-focused Recruiting nowThis 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…
Sponsor: National Eye Institute (NEI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
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Night vision test could reveal severity of eye disease
Knowledge-focused Recruiting nowThis study looks at how well people with retinal diseases like retinitis pigmentosa and Stargardt's disease see in the dark. Researchers want to find out if measuring dark adaptation can help detect and track these conditions. Healthy volunteers and people with retinal disease ag…
Sponsor: National Eye Institute (NEI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
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New study aims to uncover uveitis patterns in kids
Knowledge-focused Recruiting nowThis study is observing 300 children under 18 with uveitis, an eye inflammation condition. Researchers want to learn how common different types of uveitis are and what treatments children receive. Participants have one visit with their doctor, and some will have their medical rec…
Sponsor: Jaeb Center for Health Research • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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New eye camera sees cells that may unlock secrets of blindness
Knowledge-focused Recruiting nowThis study uses a special camera (adaptive optics) to take detailed pictures of the back of the eye in people with inherited retinal diseases. Researchers want to see how individual cells change over time and after treatments. About 200 participants aged 5 to 70 will be observed,…
Sponsor: The Hospital for Sick Children • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:24 UTC
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Massive study seeks hidden biological clues in Kids' brain disorders
Knowledge-focused Recruiting nowThis study looks at medical records of 1000 children with conditions like autism, epilepsy, and Down syndrome to find common biological patterns. Researchers want to understand what causes these disorders and how children respond to treatments. The goal is to improve diagnosis an…
Sponsor: Richard Frye • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:08 UTC
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New study aims to sharpen vision tests for the blind
Knowledge-focused Recruiting nowThis study enrolls 25 people with severe retinal diseases like retinitis pigmentosa and Stargardt disease to test new ways of measuring visual function. Researchers will evaluate how well participants can perform various vision tests, such as navigating obstacles or detecting lig…
Sponsor: Ray Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:02 UTC
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Scientists track prednisolone levels to improve dosing for inflammatory conditions
Knowledge-focused Recruiting nowThis pilot study is measuring prednisolone levels in 120 people with inflammatory diseases like thyroid eye disease, vasculitis, COPD, asthma, and others. Participants take high-dose prednisolone as part of their routine care, and researchers take timed blood samples to see how t…
Sponsor: Imperial College London • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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New study aims to cut missed doctor visits for kids with developmental disorders
Knowledge-focused Recruiting nowThis study looks at ways to help families show up for their scheduled appointments at clinics for autism and other neurodevelopmental disorders. Researchers will test different types of reminder messages and see if having a patient navigator call high-risk families makes a differ…
Phase: PHASE3 • Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:02 UTC
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AI-Powered summaries aim to make eye care notes clearer for patients
Knowledge-focused Recruiting nowThis 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…
Phase: NA • Sponsor: University of California, Los Angeles • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC
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When to boost? new trial seeks best COVID-19 shot timing for vulnerable patients
Knowledge-focused Recruiting nowThis study looks at 320 adults who are about to start strong immune-suppressing therapy and have already had at least two COVID-19 shots. Researchers want to find out if giving a COVID-19 booster right before starting therapy or waiting six months provides better protection. Part…
Phase: PHASE3 • Sponsor: Kirby Institute • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC
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New eye scanner tested on 180 volunteers – no treatment involved
Knowledge-focused Recruiting nowThis study gathers eye scan images from 180 people with healthy eyes or eye diseases like glaucoma and retinal disease. The goal is to collect data using a new optical coherence tomography (OCT) device called A10900. No treatment or medication is given. The information will help …
Sponsor: Optos, PLC • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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New 4D eye scanner debuts in operating room
Knowledge-focused Recruiting nowThis 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…
Phase: NA • Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Scientists launch study to unlock mysteries of rare neurodevelopmental conditions
Knowledge-focused Recruiting nowThis study observes 100 people with rare genetic neurodevelopmental disorders like Baker Gordon Syndrome and Syt-1 disorder. Researchers will track symptoms, collect genetic and imaging data, and create cell models to better understand these conditions. The goal is to improve dia…
Sponsor: University of Missouri-Columbia • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:10 UTC
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New color vision test could help people with severe vision loss
Knowledge-focused Recruiting nowThis study looks at how color vision changes over time in people with inherited retinal diseases (IRDs). Researchers will study 200 participants, including those with IRDs and healthy volunteers, to see how color vision loss relates to changes in the retina's structure. They are …
Sponsor: Zhongmou Therapeutics • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC
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VR headset tracks eyes to unlock new diagnostic insights
Knowledge-focused Recruiting nowThis 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…
Sponsor: machineMD AG • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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Massive study tracks 1,000 people with rare genetic brain conditions to map symptoms
Knowledge-focused Recruiting nowThis study follows 1,000 people who have certain genetic changes (hnRNP and others) that may cause developmental delays, autism, seizures, or muscle problems. Researchers collect medical records, school reports, and questionnaires to see how these gene variants affect behavior, t…
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC
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New eye camera aims to make pediatric exams easier
Knowledge-focused Recruiting nowThis 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…
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC
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Letting kids set their own therapy goals: a game changer?
Knowledge-focused Recruiting nowThis study tests whether a child-focused goal-setting method called ENGAGE helps children with neurodevelopmental disabilities do better in therapy. About 96 kids aged 5-12 and their therapists will be split into two groups: one using ENGAGE and one using usual care. Researchers …
Phase: NA • Sponsor: University of Alberta • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:10 UTC