Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
MONDO:001780510 clinical trials for this condition and its sub-types.
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NIH launches massive GI data bank to fuel future discoveries
Knowledge-focused Recruiting nowThis study aims to collect medical data and biological samples (blood, urine, stool, and tissue) from up to 4,000 adults with known or suspected gastrointestinal diseases. Participants receive standard medical care at the NIH, and any extra samples or leftover tissue from procedu…
Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Scientists map DNA 'Signatures' in rare fetal diseases
Knowledge-focused Recruiting nowThis 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…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Gene tests for sick newborns: a lifesaver in the NICU?
Knowledge-focused Recruiting nowThis 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…
Sponsor: Children's Hospital of Fudan University • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:36 UTC