Autosomal recessive congenital ichthyosis 5
MONDO:0011485An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.
Also known as: ARCI5, autosomal recessive congenital ichthyosis 5, autosomal recessive congenital ichthyosis type 5, ichthyosis, congenital, autosomal recessive type 5, LI3, formerly, NNCI, ichthyosis congenita 3, ichthyosis congenita III
19 clinical trials for this condition and its sub-types.
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Scientists hunt for clues to ichthyosis in skin and blood
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks at skin and blood samples from 200 people with ichthyosis (a genetic condition causing dry, scaly skin) and healthy volunteers. Researchers want to find specific markers that could help them understand the disease better and develop new treatments. No treatment i…
Sponsor: Northwestern University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:25 UTC
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AI vs. skin doctors: who diagnoses better?
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks at whether artificial intelligence (AI) can match a dermatologist's diagnosis when a general practitioner sends in photos and questions about a patient's skin condition. Researchers will compare the AI's diagnosis to the dermatologist's for about 1000 adults. The…
Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Free eye tests aim to catch vision loss early in harlem and washington heights
Knowledge-focused OngoingThis study offers free vision screenings to underserved adults over 40 living in affordable housing in Harlem and Washington Heights. The goal is to find eye problems like glaucoma, cataracts, and diabetic retinopathy early and connect people with follow-up care. About 749 partic…
Phase: NA • Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC