CTSC-related disorder
MONDO:0800465Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance.
Also known as: CTSC-related disorder
17 clinical trials for this condition and its sub-types.
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Broader categories
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New hope for painful hand and foot pustules: phase 3 trial launches
Disease control Recruiting nowThis phase 3 trial tests whether the drug bimekizumab can clear or nearly clear the pustules and skin lesions of palmoplantar pustulosis (PPP) on the hands and feet. About 320 adults with moderate to severe PPP will receive either bimekizumab or a placebo for 16 weeks, with an op…
Phase: PHASE3 • Sponsor: UCB Biopharma SRL • Aim: Disease control
Last updated Jun 27, 2026 14:01 UTC
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Gum disease treatment: can a hyaluronic acid gel regrow bone as well as the standard?
Disease control Recruiting nowThis study tests whether a hyaluronic acid gel can help regrow bone lost to severe gum disease, compared to the standard enamel matrix derivative gel or no gel at all. All treatments use a minimally invasive, non-surgical technique. Sixty adults with advanced periodontitis will b…
Phase: NA • Sponsor: University of Valencia • Aim: Disease control
Last updated Jun 27, 2026 08:11 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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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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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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Massive data bank launched to unlock secrets of ALS and motor neuron diseases
Knowledge-focused Recruiting nowThis study is building a large database of health information from 5,000 people with ALS and other motor neuron diseases. Participants share details like symptoms, test results, and disease progression during regular clinic visits. The de-identified data is then shared with resea…
Sponsor: Massachusetts General Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:35 UTC
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Scientists probe gum tissue to unlock secrets of aggressive periodontitis
Knowledge-focused Recruiting nowThis observational study looks at gum tissue from people with aggressive or chronic periodontitis and healthy gums. Researchers use advanced genetic tools to map cell types and signals that make aggressive disease different. Only small tissue and blood samples are taken during pl…
Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 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
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Gum disease breakthrough? scientists investigate immune cells for better diagnosis
Knowledge-focused Recruiting nowThis study examines how B cells, a type of immune cell, behave in the blood and gums of people with periodontitis (gum disease). Researchers want to see if certain B cell patterns are linked to more aggressive disease and how they change after surgery. The goal is to improve diag…
Sponsor: University Hospital, Brest • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:02 UTC