Health TrialsbyHealthPanel

Marsili Syndrome as a Gateway to Novel Analgesic Targets

ConditionMarsili Syndrome
Trial statusNot yet recruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18-80
SponsorAalborg University

About this trial

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

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Healthy men and women aged 18-80 years

Marsili syndrome

Speak and understand English

Disqualifiers

Pregnant or breastfeeding

Current regular use of cannabis, opioids, cocaine, amphetamines, MDMA/ecstasy, benzodiazepines, barbiturates, hallucinogens, or other central nervous system-active recreational drugs.

Current use of prescription medication that may significantly affect pain perception, itch perception, cortical excitability, or inflammatory responses, including opioids, antiepileptic drugs, antidepressants, antipsychotics, systemic corticosteroids, or immunosuppressive medication.

Current or previous neurological disease, including epilepsy, stroke, traumatic brain injury, spinal cord injury, multiple sclerosis, Parkinson's disease, or other degenerative neurological disorders.

Trial design

Design model

Single group

Treatments tested in this trial

  • Histamine

    Other intervention

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

  • Cowhage (Mucuna Pruriens)

    Other intervention

    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

    Drug

    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

    Other intervention

    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

    Other intervention

    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)

    Other intervention

    CPM will be assessed using a double-cuff.

Treatment groups

4 Participants
are divided into 1 treatment group
Group A: Marsili groupExperimental treatment 6 interventions

Trial outcomes

Primary outcomes

1

Measuring pain by computerized Visual Analog Scale Scoring

We will ask the subjects to rate the sensation of pain on a scale from 0 to100, where 0 represents no pain and 100 represent the worst imaginable pain.

Time frame
Day 1
2

Measuring pain by computerized Visual Analog Scale Scoring

We will ask the subjects to rate the sensation of pain on a scale from 0 to100, where 0 represents no pain and 100 represent the worst imaginable pain.

Time frame
Day 2
3

Measuring Itch by computerized Visual Analog Scale Scoring

We will ask the subjects to rate the sensation of itch on a scale from 0 to100, where 0 represents no itch and 100 represent the worst imaginable itch.

Time frame
Day 1
4

Measuring Itch by computerized Visual Analog Scale Scoring

We will ask the subjects to rate the sensation of itch on a scale from 0 to100, where 0 represents no itch and 100 represent the worst imaginable itch.

Time frame
Day 2

Secondary outcomes

1

Superficial blood perfusion

Superficial blood perfusion (SBP) is measured by a Speckle contrast imager

Time frame
Day 1
2

Superficial blood perfusion

Superficial blood perfusion (SBP) is measured by a Speckle contrast imager

Time frame
Day 2
3

Pain Catastrophizing Scale (PCS).

The PCS assesses negative and exaggerated coping concerning anticipated or experienced painful stimuli. Thirteen items have to be answered on a 5-point Likert-type scale ranging from 0 (Not at all) to 4 (all the time).

Time frame
Baseline
4

Itch Catastrophizing Scale (ICS).

The ICS assesses negative and exaggerated coping concerning anticipated or experienced itchy stimuli. Thirteen items have to be answered on a 5-point Likert-type scale ranging from 0 (Not at all) to 4 (all the time).

Time frame
Baseline

Other outcomes

1

Genomic DNA isolation

Isolation will be performed using a validated commercial kit

Time frame
Baseline
2

MicroRNA assessment

The total circulating miRNA will include the evaluation of circulating markers through targeted Next-Generation Sequencing

Time frame
Baseline
3

Proteome assessment

Quantitative proteome analysis will be performed using mass spectrometry

Time frame
Baseline

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Aalborg University

Lead sponsor

Source ClinicalTrials.gov

This trial is not recruiting at the moment. You can still explore other options: