Clinical Trial

Marsili Syndrome as a Gateway to Novel Analgesic Targets

Not Yet Recruiting
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Summary
Congenital insensitivity to pain (CIP) comprises a group of rare genetic disorders caused by mutations in genes essential for pain sensing in humans. Among these, Marsili syndrome is caused by a dominant point mutation in the transcription factor ZFHX2, and it is characterized by markedly reduced sensitivity to noxious heat, mechanical injury, while other functions remain intact. this project aims to establish the first integrated, system-level characterization of Marsili syndrome by combining human sensory phenotyping with neurophysiological and molecular analyses. The study will be conducted in two sessions of approximately 4 hours each, 24 hours apart from each other
Trial Details
NCT Number NCT07755930
Lead Sponsor Aalborg University
Conditions Marsili Syndrome
Enrollment 4 participants
Start Date 2026-08-01
Primary Completion 2026-12-31 (estimated)
Study Completion 2027-12-31 (estimated)
Updated on ClinicalTrials.gov 2026-08-10