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
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
Treatments tested in this trial
- Histamine
- Cowhage (Mucuna Pruriens)
- Capsaicin 8% Patch
- Knee Injections of hypertonic saline
- Cold Pressure Test
- Computerized Conditioned Pain Modulation (CPM)
Treatment groups
4 Participants
are divided into 1 treatment groupSponsors and collaborators
Source ClinicalTrials.gov