To investigate whether sodium and potassium mutations are found in a cohort of patients with small fiber neuropathy, painful diabetic neuropathy (versus diabetes patients with no or only minor symptoms) and in patients with breast, ovarium or…
ID
Source
Brief title
Condition
- Peripheral neuropathies
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The presence of mutations in SCN3A, SCN6A, SCN9a, SCN10a, SCN11a genes, in
addition, in those patients with small fiber neuropathy or idiopathic
neuropathy without mutations in the sodium channels and high chance of a
genetic origin (age at onset < 40 years and/or positive family history) whole
exome sequencing will be performed.
Secondary outcome
na.
Background summary
Worldwide there is an increase in incidence and prevalence of patients
suffering from peripheral neuropathies. This is mainly attributed to the aging
process, increasing population of patients suffering from diabetes mellitus and
also the long-term neurotoxic effect of various medications including
chemotherapeutic agents. Despite the various pathophysiological mechanisms
addressed, many questions are still unanswered and most patients are left with
numerous complaints and do not receive proper therapy. Painful peripheral
neuropathy is perhaps the most excruciating form of peripheral neuropathy.
Recently, genetic studies have linked ion channels, particularly its sodium and
potassium forms, to the pain pathophysiology and these channels are perhaps
potential targets for future treatment of chronic pain.
Study objective
To investigate whether sodium and potassium mutations are found in a cohort of
patients with small fiber neuropathy, painful diabetic neuropathy (versus
diabetes patients with no or only minor symptoms) and in patients with breast,
ovarium or prostate cancer that have developed painful Taxane induced
peripheral neuropathy or patients with coloncancer and with oxaliplatin induced
peripheral neuropathy (versus a group of breast cancer patients that did not
develop any pain or only experienced minor symptoms after Taxane or oxaliplatin
therapy).
Study design
patients will be recruited in close collaboration with oncologists and
endocrinologists based at the Spaarne hospital, Hoofddorp, Maastricht
University Medical Centre, Maastricht, in the Netherlands and at the *Carlo
Besta* Neurological Institute, Milan, Italy. Patients will be profiled at these
three hospital and genetic studies will be conducted at Maastricht University
Medical Centre, Maastricht, the Netherlands
Study burden and risks
Patients will complete several questionnaires (estimated time 30
minutes)(addendum), and will undergo QST and skinbiopsy. QST is a noninvasive,
painless test of temperature sensation. Durations of QST is 30 minutes. Skin
biopsy for determination of IENF density is a minimal invasive procedure.
Estimated time ~10 minutes. There is a very small risk of getting an infection.
Some people get a scar at the site of the biopsy (often less than 3mm, conform
the size of the punch biopsy). NCS is part of care as usual for patients with
polyneuropathy.
P. Debyelaan 25
6201 AZ Postbus 5800
NL
P. Debyelaan 25
6201 AZ Postbus 5800
NL
Listed location countries
Age
Inclusion criteria
Subjects with Painful PN must meet all of the following inclusion criteria to be eligible for participation:
a. Fulfillment of the international diagnostic criteria for snall fiber neuropathy, for painful diabetic neuropathy or for chemotherapy induced PN by taxane in breast, ovarian or prostate cancer and oxaliplatin in colon cancer. Patients with CIPN have completed their chemotherapy treatment.
b. Maximal pain VAS scores must be at least 40 (range: 0 - 100) (without neuropathic pain medication; in case of use of neuropathic pain medication, the VAS-score in the past without medication to the best of patients knowledge will be used)
c. Age 18 years or older.
d. Each subject will receive an information leaflet and an informed consent form. Subjects must give informed consent by signing and dating an informed consent form prior to study entry. Subjects must be willing to complete all study-related activities and examination required by the protocol.
e. For the control groups, maximal pain VAS scores must be less than 40, preferably < 25 (range: 0 - 100).;Healthy controls (n = 20) must meet the following inclusion criteria to be eligible for participation:
a. Age of 30 - 80 years
b. Absence of the diagnosis of neuropathy or chronic pain disorders
Exclusion criteria
Concomitant diseases that might interfere with the interpretations of the results.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL36128.068.11 |