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 ointment shows promise for rare skin condition
Disease control CompletedThis Phase 3 study tested an ointment called TMB-001 in 153 people aged 6 and older with X-linked or ARCI ichthyosis, conditions that cause dry, scaly, and cracked skin. Participants applied the ointment or a placebo daily for 12 weeks, with some continuing for maintenance. The g…
Phase: PHASE3 • Sponsor: LEO Pharma • Aim: Disease control
Last updated Jun 27, 2026 12:36 UTC
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Experimental pill targets toxic fat buildup in rare genetic disease
Disease control CompletedThis study tested an oral drug called ADX-629 in 8 people with Sjögren-Larsson syndrome, a rare inherited disorder that causes harmful fatty substances to build up in the skin, brain, and eyes. The main goals were to see if the drug is safe and can reduce these fatty aldehydes. P…
Phase: PHASE1, PHASE2 • Sponsor: University of Nebraska • Aim: Disease control
Last updated Jun 27, 2026 12:29 UTC
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Could arthritis drug humira ease rare skin disease?
Disease control CompletedThis Phase 2 trial tested whether Humira (adalimumab), a drug used for arthritis, can help people with Netherton syndrome, a rare genetic skin condition that causes severe inflammation, itching, and pain. Eleven patients received six injections over three months, followed by thre…
Phase: PHASE2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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New cream shows promise for rare skin condition
Disease control CompletedThis early study tested a cream called SXR1096 on 9 people with Netherton syndrome, a rare inflammatory skin disease. The cream aims to block certain enzymes that cause skin problems. Participants applied the cream and a placebo to different skin areas for one month to check safe…
Phase: PHASE1, PHASE2 • Sponsor: Sixera Pharma • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Drug combo shows promise for rare skin disease in kids
Disease control CompletedThis study tested a combination of two immune-targeting drugs, secukinumab and dupilumab, in 15 children with severe Netherton syndrome, a rare genetic skin disorder. The goal was to see if the treatment could improve survival and control the disease. The children received weight…
Sponsor: Federal Research Institute of Pediatric Hematology, Oncology and Immunology • Aim: Disease control
Last updated Jun 26, 2026 13:45 UTC
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Green tea cream shows promise for rare 'Fish Scale' skin disease
Symptom relief CompletedThis study tested a cream made from green tea extract (Veregen) on 6 people with lamellar ichthyosis, a rare genetic condition that causes severe dry, scaly skin. Participants applied the cream to one side of their body and a standard moisturizer to the other for 4 weeks. The goa…
Phase: PHASE3 • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Symptom relief
Last updated Jun 27, 2026 14:00 UTC
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New ointment shows promise for rare skin scaling disease
Symptom relief CompletedThis study tested two strengths of a topical isotretinoin ointment (TMB-001) in 34 people aged 9 and older with congenital ichthyosis, a rare genetic skin condition causing severe scaling. The main goal was to see if the ointment could reduce scaling by at least 50% compared to a…
Phase: PHASE2 • Sponsor: LEO Pharma • Aim: Symptom relief
Last updated Jun 27, 2026 12:36 UTC
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Migraine drug shows promise for IBS belly pain in small study
Symptom relief CompletedThis pilot study tested whether rimegepant (Nurtec), a drug used for migraines, can reduce chronic abdominal pain in people with irritable bowel syndrome (IBS). Thirty-nine adults with non-constipation IBS took either the drug or a placebo for 28 days. Researchers measured change…
Phase: PHASE2 • Sponsor: Mayo Clinic • Aim: Symptom relief
Last updated Jun 27, 2026 12:36 UTC
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Could cutting certain carbs calm your IBS? new study says yes
Symptom relief CompletedThis study tested whether a low-FODMAP diet—which limits certain carbohydrates that can cause gas and bloating—can reduce symptoms and improve quality of life in people with irritable bowel syndrome (IBS). 183 adults with IBS were split into two groups: one received education on …
Phase: NA • Sponsor: Zagazig University • Aim: Symptom relief
Last updated Jun 27, 2026 08:06 UTC
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AI listens in to free up Doctors' time
Knowledge-focused CompletedThis study tested an AI voice assistant that listens to conversations between neurologists and patients, then automatically fills out electronic medical records. Researchers timed 320 visits with and without the AI to see if it saved doctors time and improved patient care. The go…
Phase: NA • Sponsor: Research and Practical Clinical Center for Diagnostics and Telemedicine Technologies of the Moscow Health Care Department • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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AI could cut skin specialist wait times, study hints
Knowledge-focused CompletedThis study tested an artificial intelligence algorithm designed to help primary care doctors decide whether a patient with a skin condition really needs to see a dermatologist. Researchers enrolled 200 adults with skin problems and had their doctors take photos of the affected ar…
Sponsor: AI Labs Group S.L • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Hidden eye problems found in ichthyosis patients
Knowledge-focused CompletedThis study examined 152 people with hereditary ichthyosis to find out how common eye problems are. Participants received a full eye exam, including tests for dry eye, corneal shape, and vision. The goal was to detect hidden issues like keratoconus, which can lead to vision loss i…
Phase: NA • Sponsor: University Hospital, Toulouse • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:07 UTC
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Rare skin disease mystery unraveled: new study maps netherton Syndrome's inner workings
Knowledge-focused CompletedThis study looked at Netherton syndrome, a rare genetic skin condition, to better understand how it affects the body and immune system. Researchers studied 18 people with the disease, measuring immune markers in the blood and tracking skin changes. The goal was to find new target…
Phase: NA • Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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Living with ichthyosis: what 20 patients reveal about daily struggles
Knowledge-focused CompletedThis study interviewed 20 adults aged 30 and older with congenital ichthyosis, a rare genetic skin condition. Researchers asked about pain, social life, work, and finances to learn how the disease affects overall well-being. The goal was to gather insights, not to test a treatmen…
Sponsor: Maastricht University Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC