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
Age range
18 Years – 80 Years
Sex
ALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Measuring pain by computerized Visual Analog Scale Scoring
Timeframe: Day 1
Measuring pain by computerized Visual Analog Scale Scoring
Timeframe: Day 2
Measuring Itch by computerized Visual Analog Scale Scoring
Timeframe: Day 1
Measuring Itch by computerized Visual Analog Scale Scoring
Timeframe: Day 2
Alloknesis
Timeframe: Day 1
Alloknesis
Timeframe: Day 2
Mechanically evoked itch (MEI)
Timeframe: Day 1
Mechanically evoked itch (MEI)
Timeframe: Day 2
Mechanical Pain Thresholds (MPT)
Timeframe: Day 1
Mechanical Pain Thresholds (MPT)
Timeframe: Day 2
Mechanical Pain Sensitivity (MPS)
Timeframe: Day 2
Mechanical Pain Sensitivity (MPS)
Timeframe: Day 1
Pressure Pain Threshold
Timeframe: Day 1
Pressure Pain Threshold
Timeframe: Day 2
Mechanical Suprathreshold Pain Stimulation
Timeframe: Day 2
Computerized Cuff Pressure Algometer (CPA)
Timeframe: Day 1
Spatial and Temporal Summation of Pain
Timeframe: Day 1
Cold Detection Thresholds (CDT)
Timeframe: Day 1
Cold Detection Thresholds (CDT)
Timeframe: Day 2
Warm Detection Thresholds (WDT)
Timeframe: Day 1
Warm Detection Thresholds (WDT)
Timeframe: Day 2
Cold Pain Thresholds (CPT)
Timeframe: Day 1
Cold Pain Thresholds (CPT)
Timeframe: Day 2
Heat Pain Thresholds (HPT)
Timeframe: Day 1
Heat Pain Thresholds (HPT)
Timeframe: Day 2
Pain to Supra-threshold Heat Stimuli (STHS)
Timeframe: Day 1
Pain to Supra-threshold Heat Stimuli (STHS)
Timeframe: Day 2
EEG recording
Timeframe: Day 1
Measuring cortical responses to magnetic stimulation
Timeframe: Day 1