Painful Channelopathies Study (PCS)
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|ClinicalTrials.gov Identifier: NCT02696746|
Recruitment Status : Recruiting
First Posted : March 2, 2016
Last Update Posted : September 17, 2019
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.
|Condition or disease||Intervention/treatment|
|Erythromelalgia Pain Insensitivity, Congenital Hereditary Sensory and Autonomic Neuropathies Chronic Pain||Other: Observation|
|Study Type :||Observational|
|Estimated Enrollment :||100 participants|
|Official Title:||Painful Channelopathies Study|
|Study Start Date :||February 2012|
|Estimated Primary Completion Date :||June 2021|
Pain related conditions
Subjects with painful or painless conditions (observational study, no interventions)
- Pain score [ Time Frame: Day 7 ]Seven days pain diary of 4 or above. Patients will have 7-days pain diaries with a numeric rating scale from 0 to 10.
- Age [ Time Frame: Day 1 ]Number of years
- Gender [ Time Frame: Day 1 ]Chromosome gender (male/female)
- Ethnicity [ Time Frame: Day 1 ]Ethnic group
- Detailed medical history [ Time Frame: Day 1 ]Number and name of medications that were taken previously by the patient
- Pain related anxiety [ Time Frame: Day 1 ]Patients will answer the Pain Anxiety Symptoms Scale (PASS-20)
- Measures of quality of life [ Time Frame: Day 1 ]Patients will answer the 36-Item Short Form Survey -quality of life questionnaire-
- Measures of sleep interference [ Time Frame: Day 1 ]Sleep quality is assessed through the use of questionnaires
- Nerve Conduction Studies [ Time Frame: Day 1 ]Neurophysiology will be conducted to assess nerve integrity. Amplitude will be measured in microvolts.
- Nerve Conduction Studies [ Time Frame: Day 1 ]Neurophysiology will be conducted to assess nerve integrity. Latency will be measured in milliseconds.
- Microneurography Studies [ Time Frame: Day 1 ]This is a minimally invasive technique in which the activity of single nerve fibre is recorded from peripheral nerves and is for directly detecting the function of pain fibres in peripheral nerves in humans.
- Sensory Thermal Thresholds [ Time Frame: Day 1 ]Thermal thresholds will be measured in degrees centigrade
- Sensory Mechanical Detection Thresholds [ Time Frame: Day 1 ]Mechanical Detection Thresholds will be measured in millinewtons
- Intra-Epidermal Nerve Fibre density [ Time Frame: Day 1 ]Measurement of nerve fibres in the skin of patients (taken depending of the pain related area)
- Skin biopsy [ Time Frame: Day 1 ]Collection and culture of fibroblasts and neural crest stem cells for assessing differences in the rheobase measured in amperes.
- Axon reflex measurement [ Time Frame: Day 1 ]Application of agents such as histamine via iontophoresis which will stimulate the peripheral nerve endings of C fibres inducing a vasodilatation, which is visible as a flare response of the skin (area in square centimeters with flare).
- Functional Magnetic Resonance Imaging [ Time Frame: Day 30 ]Brain activity related to the pain condition
- Blood samples - DNA [ Time Frame: Within 6 months of visit ]Blood samples coupled with detailed phenotype data will investigate potential gene associations in the development of painful or painless conditions.
Biospecimen Retention: Samples With DNA
- The investigators will collect blood samples (30mls) from each subject, which will be stored at -800C in a locked freezer. They will sequence known genes associated with painful channelopathies: SCN9a and TRPA1. They will store DNA in order that it is possible that other candidate genes associated with pain can be tested.
3mm skin punch biopsies performed 10 cm above lateral malleolus for 2 different purposes:
- Nerve fibre density measurement
- Fibroblasts cultures as these represent a useful tool in the future as a source of cells the phenotype of which can be modulated for instance to generate induced pluripotent stem cells
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02696746
|Nuffield Department of Clinical Neurosciences||Recruiting|
|Oxford, Oxfordshire, United Kingdom, OX3 9DU|
|Contact: Juan D Ramirez, MD +44 1865234541 firstname.lastname@example.org|
|Contact: Andreas Themistocleous, PhD +44 1865234543 email@example.com|
|Principal Investigator: David L H Bennett, MD PhD|