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
11 clinical trials for this condition and its sub-types, 0 tagged with CTSC-related disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of CTSC-related disorder
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Periodontitis, aggressive 1 6 trials
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Papillon-Lefevre disease 5 trials
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Haim-Munk syndrome 0 trials
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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 3 • Sponsor: UCB Biopharma SRL • Aim: Disease control
Last updated Aug 29, 2026 00:00 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…
Sponsor: University of Valencia • Aim: Disease control
Last updated Aug 21, 2026 00:00 UTC
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Can advanced imaging reveal hidden swallowing muscle damage in IBM?
Diagnosis Recruiting nowResearchers at Johns Hopkins University are studying whether neuromuscular ultrasound and MRI can serve as reliable markers of swallowing muscle problems in people with inclusion body myositis (IBM). The study compares imaging and clinical findings in 30 participants, including p…
Sponsor: Johns Hopkins University • Aim: Diagnosis
Last updated Sep 18, 2026 00:00 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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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