To determine, in patients registered at our hospital having CRPS (types I) at the leg, the percentage of patients having clinical features compatible with SFN and compared to the unaffected leg (in unilateral cases) to determine possible focal or…
ID
Source
Brief title
Condition
- Peripheral neuropathies
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The presence of mutations in the SCN9A gene.
Secondary outcome
- The presence of mutations in SCN10A and SCN11A genes.
- Genotype to phenotypical findings (at the impairment level like pain and
fatigue severity, autonomic deficits, fatigue, and quality of life impact) of
CRPS patients having SCN9A mutations versus those who remain with an unknown
aetiology.
Background summary
Complex regional pain syndrome (CRPS) is a taxonomy describing a disease that
may start spontaneously or may develop after a traumatic or iatrogenic injury.
Recent studies have suggested CRPS symptoms to be related to small fibre
neuropathy (SFN). The pathophysiology of CRPS remains unsolved despite these
clinical observations that are being backed up by confirmatory pathological
findings of SFN. CRPS shows an overlap with the SFN and erythermalgia
phenotype. In both inherited erythermalgia and SFN, mutations in voltage-gated
sodium channel Nav1.7 have been found. These channels are perhaps potential
targets for future treatment of chronic pain.
Study objective
To determine, in patients registered at our hospital having CRPS (types I) at
the leg, the percentage of patients having clinical features compatible with
SFN and compared to the unaffected leg (in unilateral cases) to determine
possible focal or generalized involvement. In patients with clinical features
of SFN, we will be determining the percentage of these patients having a
mutation in SCN9A, encoding for Nav1.7.
Study design
All patients known at the neurological and anaesthesiological outpatient clinic
of the MUMC with a diagnosis of CRPS type I fulfilling the international
diagnostic criteria will be asked to participate in this study.
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.
Postbus 5800
6201 AZ
NL
Postbus 5800
6201 AZ
NL
Listed location countries
Age
Inclusion criteria
Inclusion criteria
- diagnosis CRPS1 according to IASP criteria
- age > 18 years
- at least 2 or more symptoms compatible with SFN
- normal findings at neurological and EMG examination, besides changes compatible with SFN involvement.
Exclusion criteria
- Exclusion criteria:
- symptoms and signs of large fibre involvement at neurological examination
- current or previous neurologic abnormalities unrelated to reflex sympathetic dystrophy
- presence of Raynaud*s disease
- another condition affecting the function of the disease or contra-lateral extremity
- abnormal EMG findings
- diagnosis CRPSII
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 | NL38219.068.11 |