Chromosome 17p13.1 deletion syndrome
MONDO:0013415Also known as: chromosome 17p13.1 deletion syndrome, 17p13.1 deletion syndrome
3 clinical trials for this condition and its sub-types.
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Broader categories
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New program aims to ease burden on families of kids with rare diseases
Symptom relief ENROLLING_BY_INVITATIONThis study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …
Phase: NA • Sponsor: Children's National Research Institute • Aim: Symptom relief
Last updated Jun 27, 2026 09:00 UTC
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10,000 genomes scoured for clues to rare brain diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.
Sponsor: Karolinska Institutet • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:56 UTC