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NOT YET RECRUITING
NCT07755930
NA

Marsili Syndrome as a Gateway to Novel Analgesic Targets

Sponsor: Aalborg University

View on ClinicalTrials.gov

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

Interventions

OTHER

Histamine

To deliver histamine, standard allergy skin prick test (SPT) lancets are applied

OTHER

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

DRUG

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.

OTHER

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)

OTHER

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.

OTHER

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