Can a rare mutation that blocks pain reveal new painkiller targets?
NCT ID NCT07755930
First seen Aug 10, 2026 · Last updated Aug 11, 2026 · Updated 1 time
Summary
This study investigates Marsili syndrome, a rare genetic condition that reduces sensitivity to pain and injury. Researchers will apply heat, pressure, itch-inducing substances, and knee injections to a small group of people with the condition, measuring their pain and itch responses. The goal is to understand how this mutation alters pain sensing, which could point toward new targets for pain treatments.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- Histamine, cowhage, capsaicin 8% patch, and hypertonic saline knee injections are used to provoke pain and itch sensations for measurement.
- What this could lead to
- If this works, it could uncover new targets for painkillers by revealing how a rare genetic mutation blocks pain.
- What could go wrong
- This is a very small study (4 people) focused on understanding, not treatment. Results may not apply to the general population.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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About 4 people
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Aug 2026
An estimate. Start dates often move.
- Expected to finish
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Dec 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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18 to 80 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Healthy men and women aged 18-80 years * Marsili syndrome * Speak and understand English Exclusion Criteria: * 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. * Current or previous severe psychiatric disorder, including major depression, psychosis, bipolar disorder, or severe anxiety disorder. * Current or previous clinically significant musculoskeletal, cardiovascular, pulmonary, inflammatory, autoimmune, or dermatological disease that may interfere with study procedures or outcome measures. * Lack of ability to understand study information, provide informed consent, or cooperate with study procedures. * Abnormally disrupted sleep during the 24 hours before the experiment. * Contraindications to TMS, including previous epileptic seizure, implanted electronic medical devices, metal implants in the head or jaw, implanted hearing aids, facial metal implants, permanent makeup, or tattoos in the facial area. * Inability to pass the Transcranial Magnetic Stimulation Adult Safety Screen. * Abnormally disrupted sleep in the 24 hours preceding the experiment
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Center for Neuroplasticity and Pain Faculty of Medicine, Aalborg University Selma Lagerløfs Vej 249 9260 Gistrup, Denmark
Gistrup, Aalborg, 9260, Denmark