CEP290-related ciliopathy
MONDO:0100451A ciliopathy caused by biallelic variants in the CEP290 gene.
Also known as: CEP290 ciliopathy, BBS14, Bardet-Biedl syndrome 14, Bardet-Biedl syndrome type 14, CEP290 Joubert syndrome, CEP290 Leber congenital amaurosis, CEP290 Meckel syndrome, CEP290 Senior-Loken syndrome
3 clinical trials for this condition and its sub-types.
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Broader categories
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Experimental eye drug hopes to restore sight in rare blindness
Disease control Recruiting nowThis phase 3 trial tests an experimental drug called sepofarsen in 32 people with Leber congenital amaurosis (LCA), a rare genetic condition that causes severe vision loss from birth. The drug is injected into one eye, while the other eye gets a placebo, to see if it safely impro…
Phase: PHASE3 • Sponsor: Laboratoires Thea • Aim: Disease control
Last updated Jun 27, 2026 14:02 UTC
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Scientists hunt for drug targets in rare kidney disorder
Knowledge-focused Recruiting nowThis study looks at the genetic causes of nephronophthisis, a rare kidney disease that leads to kidney failure before age 20. Researchers will collect urine and blood samples from 310 patients and healthy relatives to study cells and identify potential drug targets. The goal is t…
Phase: NA • Sponsor: Imagine Institute • Aim: Knowledge-focused
Last updated Jun 26, 2026 14:13 UTC