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NPHP3-related Meckel-like syndrome
MONDO:0009966Also known as: Goldston syndrome, MKS7, Meckel syndrome type 7, Meckel-like syndrome type 1, NPHP3-related Meckel-like syndrome, renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome, Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia, Meckel syndrome 7
7 clinical trials for this condition and its sub-types.
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Scientists hunt for early warning signs of kidney failure in rare genetic diseases
Knowledge-focused CompletedThis completed study collected blood and urine samples from 240 people with ciliopathies—rare genetic disorders that often lead to kidney failure. Researchers analyzed these samples to find biological markers that could predict how the disease will progress. The goal is to develo…
Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC
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Gene sequencing uncovers mysterious fetal malformations
Knowledge-focused CompletedThis study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Speedy gene test aims to give answers on birth defects in just 7 days
Knowledge-focused CompletedThis study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC