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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Gum treatment may lower body inflammation and improve cholesterol
Disease control CompletedThis study looked at whether non-surgical gum disease treatment could reduce inflammation and improve blood fat levels in young adults with severe periodontitis. Fifty participants (25 with gum disease and 25 healthy) were involved. Those with gum disease received deep cleaning a…
Phase: NA • Sponsor: Istanbul University • Aim: Disease control
Last updated Jun 27, 2026 12:06 UTC
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Wearable sensors monitor ALS progression in new study
Knowledge-focused CompletedThis study tests whether wearable sensors and digital home tasks can track changes in movement, speech, and falls in people with ALS. About 20 participants will wear neck and wrist sensors and complete speech and handwriting tests over 48 weeks. The goal is to see if these digita…
Sponsor: Milton S. Hershey Medical Center • Aim: Knowledge-focused
Last updated Jul 01, 2026 00:00 UTC
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Past gum disease may impact Long-Term dental implant success
Knowledge-focused CompletedThis study followed 55 people with dental implants for 5 years to see if their history of gum disease (aggressive, chronic, or none) affected implant health. Participants received regular dental cleanings. Researchers measured bone loss, gum inflammation, and implant survival. Th…
Sponsor: University of Campinas, Brazil • Aim: Knowledge-focused
Last updated Jun 28, 2026 00:00 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