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Marsili Syndrome as a Gateway to Novel Analgesic Targets
Sponsor: Aalborg University
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
Key Details
Gender
All
Age Range
18 Years - 80 Years
Study Type
INTERVENTIONAL
Enrollment
4
Start Date
2026-08-01
Completion Date
2027-12-31
Last Updated
2026-08-10
Healthy Volunteers
No
Conditions
Interventions
Histamine
To deliver histamine, standard allergy skin prick test (SPT) lancets are applied
Cowhage (Mucuna Pruriens)
The spicules will be manually inserted. Approximately 30-35 spicules are gently rubbed into a 1 cm diameter skin area on the forearm
Capsaicin 8% Patch
Capsaicin patches (2x2 cm, dosage form: transdermal patch 8%) will be applied on the selected area. The patch will be left in place for 30 minutes after which it will be removed.
Knee Injections of hypertonic saline
Experimental knee pain will be induced with a 0.25-0.30 mL bolus injection of 5% hypertonic saline, which will be injected into the dominant Infrapatellar Fat Pad (IFP)
Cold Pressure Test
Participants will be asked to place their hand in the cold-water tank (temperature around 5°C) and to keep it for as long as they can tolerate it.
Computerized Conditioned Pain Modulation (CPM)
CPM will be assessed using a double-cuff.
Locations (1)
Center for Neuroplasticity and Pain Faculty of Medicine, Aalborg University Selma Lagerløfs Vej 249 9260 Gistrup, Denmark
Gistrup, Aalborg, Denmark