Ichthyosis
MONDO:0019269Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.
Also known as: DOC, disorder of cornification, fish scale disease, fish skin disease, ichthyosis, ichthyosis (disease), non-syndromic ichthyosis
42 clinical trials for this condition and its sub-types.
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Broader categories
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New drug trial hopes to tame rare skin disease
Disease control Recruiting nowThis early-stage trial tests a new drug called BCX17725 in healthy volunteers and people with Netherton syndrome, a rare genetic skin condition. The study aims to check safety, how the drug moves through the body, and whether it can reduce skin redness and scaling. About 78 parti…
Phase: PHASE1 • Sponsor: BioCryst Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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New lotion shows promise for rare skin disorder
Disease control Recruiting nowThis study tests a lotion called QRX003 in people with Netherton Syndrome, a rare genetic skin condition. About 16 participants aged 4 and older will apply the lotion twice daily for 12 weeks. Researchers will check if it improves skin appearance and reduces itching.
Phase: PHASE2, PHASE3 • Sponsor: Quoin Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Live bacteria cream shows promise for rare skin disease
Disease control Recruiting nowThis early-stage trial tests a cream called ATR12-351 for Netherton syndrome, a rare genetic skin condition. The cream contains live bacteria that produce a protein missing in people with the disease. Twelve adults will apply the cream to one side of their body and a placebo to t…
Phase: PHASE1 • Sponsor: Azitra Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:02 UTC
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AI reads your skin: new tool aims to help doctors spot rashes and moles
Diagnosis Recruiting nowThis study is testing a software tool called Belle.ai that uses artificial intelligence to help doctors diagnose common skin diseases. About 400 patients at dermatology clinics will have three photos taken of their skin condition. The AI will analyze the photos and suggest possib…
Sponsor: Wake Forest University Health Sciences • Aim: Diagnosis
Last updated Jun 27, 2026 07:55 UTC
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Can an existing drug calm the itch of rare genetic skin diseases?
Symptom relief Recruiting nowThis early-phase study is testing whether dupilumab, a drug already used for eczema, can reduce severe itching in people with various genetic skin disorders. The trial will enroll 30 participants and last 26 months, including a 16-week treatment period and a longer extension phas…
Phase: EARLY_PHASE1 • Sponsor: Northwestern University • Aim: Symptom relief
Last updated Jun 27, 2026 12:28 UTC
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Cream wraps could soothe painful skin for ichthyosis patients
Symptom relief Recruiting nowThis study tests whether a series of three cream wraps can reduce skin discomfort in people with moderate to very severe hereditary ichthyosis. Participants will receive a therapeutic bath followed by application of a rich emollient cream and a plastic wrap for one hour. The main…
Phase: NA • Sponsor: University Hospital, Toulouse • Aim: Symptom relief
Last updated Jun 27, 2026 12:06 UTC
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New program aims to reduce shame from chronic illness
Symptom relief Recruiting nowThis study tests a group counseling program called Healing HEARTS to help people with conditions like obesity, skin disease, cancer, HIV, diabetes, or chronic pain deal with internalized stigma. Participants will either join the counseling program or a peer support group. The goa…
Phase: NA • Sponsor: University of Florida • Aim: Symptom relief
Last updated Jun 27, 2026 09:02 UTC
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Could a common probiotic soothe IBS? new trial seeks answers
Symptom relief Recruiting nowThis study tests whether a probiotic called Saccharomyces boulardii can reduce symptoms of irritable bowel syndrome (IBS) in adults. About 406 people with non-constipated IBS will take either the probiotic or a placebo daily for 8 weeks. Researchers will measure changes in sympto…
Phase: PHASE3 • Sponsor: Biocodex • Aim: Symptom relief
Last updated Jun 27, 2026 07:57 UTC
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Microbiome study seeks clues in rare skin condition
Knowledge-focused Recruiting nowThis study looks at the bacteria, fungi, and viruses living on the skin, in the gut, and in the mouth of people with Netherton syndrome, a rare condition that damages the skin barrier and often causes allergies. Researchers will compare these microbes to those of healthy voluntee…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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Scientists seek skin samples to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects biological samples—like blood, skin biopsies, and swabs—from people with or at risk for skin diseases, as well as healthy volunteers. Researchers will use these samples to study the causes of skin conditions and explore potential treatments. Up to 700 particip…
Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
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New study to measure hidden toll of rare skin diseases on patients and families
Knowledge-focused Recruiting nowThis study aims to understand the full burden of 9 rare skin diseases—including physical, emotional, social, and financial challenges—on patients and their families. Researchers will use special questionnaires to track how these conditions affect daily life and care needs. About …
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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Cancer Patients' skin woes under the microscope
Knowledge-focused Recruiting nowThis study looks at how skin conditions related to cancer or cancer treatments affect the well-being of cancer patients and survivors. About 1,025 participants will fill out questionnaires about their skin condition. The goal is to better understand these effects and improve trea…
Sponsor: Memorial Sloan Kettering Cancer Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC