UnknownNot Applicable

Painful Channelopathies Study

United Kingdom100 participantsStarted 2012-02

Plain-language summary

To understand the pathophysiological basis of heritable pain syndromes. This will consist of a number of components: * Determine the genetic basis for heritable pain syndromes. * Investigate the pain symptoms, psychological co-morbidity and quality of life in patients with heritable pain syndromes. * Use quantitative sensory testing to investigate abnormalities in sensory processing. * Use imaging modalities to investigate the neural correlates of pain perception in heritable channelopathies. * In select patients to perform skin biopsy to determine if there has been any damage to C-fibres. * To perform skin biopsy in order to culture fibroblasts and neural crest stem cells for future studies into the molecular basis of altered pain perception. * To use neurophysiological tests, the axon reflex, and conditioning challenges to determine how peripheral nerves, in heritable channelopathies and unusual pain syndromes, have been altered. * Microneurographic recordings for directly detecting the function of pain fibres in peripheral nerves. Knowledge gained from the study will be used to aid the further development of genetic testing and specific pain questionnaires for the diagnosis of heritable pain syndromes secondary to channelopathies. * Ultimately better knowledge of underlying pathophysiology in these heritable pain conditions may inform the development of novel treatments.

Who can participate

Age range18 Years – 99 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Patients who are ≥16 years of age who have a set of symptoms that resemble those seen on Paroxysmal Extreme Pain Disorder, Familial Episodic Pain Syndrome or Erythromelalgia. * Patients already with the diagnosis of Paroxysmal Extreme Pain Disorder or Familial Episodic Pain Syndrome or Erythromelalgia. * Patients with reduced pain sensibility. * First degree relatives of patients who meet diagnostic criteria for Paroxysmal Extreme Pain Disorder, Familial Episodic Pain Syndrome, Erythromelalgia or inability to experience pain. * Patients who do not fulfill any of the exclusion criteria. Exclusion Criteria: * Pregnant subjects. * Subjects with insufficient command of English to obtain consent from or to complete the study questionnaires. * Subjects with insufficient mental capacity to obtain consent from or to complete the study questionnaires. * Subjects with concurrent severe psychological or psychiatric disorders, specially those patients with severe claustrophobia. * Patients with moderate to severe pain arising as a consequence of other disorders causing pain but that are not associated with those mentioned before as channelopathies. * Patients with central nervous system diseased that may complicate the somatosensory testing. * The skin biopsy procedure, will not be conducted on those patients with contraindications to do so i.e. anticoagulation therapy, skin infections, etc; that might result in adverse outcomes (if the subject decides to decline…

What they're measuring

Pain score

Timeframe: Day 7

Trial details

NCT IDNCT02696746

SponsorKing's College London

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2021-06