Microcephaly and chorioretinopathy 3
MONDO:0014592Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.
Also known as: TUBGCP4 microcephaly and chorioretinopathy, microcephaly and chorioretinopathy caused by mutation in TUBGCP4, microcephaly and chorioretinopathy type 3, microcephaly and chorioretinopathy, autosomal recessive, type 3, MCCRP3, microcephaly and chorioretinopathy, autosomal recessive, 3
46 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
Molecular map may guide treatment for mysterious inflammatory illnesses
Disease control CompletedThis study tested whether analyzing a patient's DNA and RNA could help doctors pick the right drug for inflammatory diseases that don't fit standard categories. 32 adults with at least two affected organs (including skin) received one of six targeted therapies based on their mole…
Phase: PHASE2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 12:36 UTC
-
New rapid test for infection and inflammation put to the test
Diagnosis CompletedThis study looked at how well a new, quick finger-prick test (LumiraDx CRP) measures CRP levels compared to a standard lab test. CRP is a marker of infection, inflammation, or tissue injury. 79 adults with symptoms of these conditions took part. The goal was to see if the new tes…
Sponsor: LumiraDx UK Limited • Aim: Diagnosis
Last updated Jun 27, 2026 13:07 UTC
-
Can an iPad game spot autism early?
Diagnosis CompletedThis study tested whether an iPad game (Play.Care) could help diagnose autism spectrum disorder (ASD) in children aged 2.5 to 5 years. The game measures how children move while playing, since movement differences may be early signs of autism. Researchers compared the game's resul…
Phase: NA • Sponsor: University of Strathclyde • Aim: Diagnosis
Last updated Jun 27, 2026 12:09 UTC
-
New PET tracer aims to light up hidden infections
Diagnosis CompletedThis early study tested a new radioactive tracer called 18F-FDS in 16 people with suspected bacterial or fungal infections. The tracer is designed to light up infection sites on PET/CT scans, helping doctors see exactly where an infection is. The goal was to check how the tracer …
Sponsor: Johns Hopkins University • Aim: Diagnosis
Last updated Jun 27, 2026 08:03 UTC
-
New program aims to help siblings of chronically ill children
Symptom relief CompletedThis completed trial tested a 5-session group program for siblings and parents of children with chronic illness. The goal was to improve sibling mental health, family communication, and quality of life. 288 families participated, with some receiving the program immediately and ot…
Phase: NA • Sponsor: University of Oslo • Aim: Symptom relief
Last updated Jun 26, 2026 18:43 UTC
-
Study explores how family and friends impact caregiver health
Knowledge-focused CompletedThis completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
-
Could hidden nerve damage explain pain in kids with developmental delays?
Knowledge-focused CompletedThis completed study looked at whether children with neurodevelopmental disorders (like mitochondrial disease, cerebral palsy, or developmental delay) have fewer small nerve fibers in their skin, which could cause pain. Researchers took small skin biopsies from 203 children—some …
Sponsor: Heinrich-Heine University, Duesseldorf • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC
-
New screening tool aims to spot suicide risk in kids with autism
Knowledge-focused CompletedThis study tested a set of questions to better identify suicide risk in young people aged 8–17 with autism or other neurodevelopmental disorders. Researchers asked 278 participants and their parents about thoughts of self-harm and understanding of death. The goal was to create a …
Sponsor: National Institute of Mental Health (NIMH) • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC