researchs aims- to assess the frequency of auto-immune disease in patients with dystrophia myotonica type II compared to patients with dystrophia myotonica type I- to assess the frequency of auto-antibody formation in patients with dystrophia…
ID
Source
Brief title
Condition
- Autoimmune disorders
- Musculoskeletal and connective tissue disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
frequency of autoimmune disease according to clinical criteria or
classification criteria in both cohorts
Secondary outcome
frequency of autoantibody fromation in both cohorts
Background summary
Dystrophia myotonica (DM) is a genetical muscle disorder of wich two subtypes
exist (DMI and DMII).
Recently an observation was made that the prevalence of T-cel and autoantibody
mediated auto-immune disease was increased in a nationwide cohort of patients
with DM I. Several causes for this association can be conceived , including
genetical linkage.
The genetical cause of DM II is a mutation of the ZNF-9 gene on locus 3q21.3 en
3q13.3-q24 and in these regions some interesting genes can be found for
auto-immune disease, especialy the CD80/CD86 domain. CD80/CD86 is a ligand for
the costimulatory T-cel recepter CD28 and also the locus is at this moment the
only candidate gene for RA susceptability outside chromosome 6 (HLA genes).
Several polymorphisms of CD80/CD86 have been recognised and some seem
associated with auto-immune diasease. An increased prevalence of autoimmune
disaese and autoanti-body formation associated with this monogenetic disorder
would provide insigth in the aetiology of auto immune disorders.
Study objective
researchs aims
- to assess the frequency of auto-immune disease in patients with dystrophia
myotonica type II compared to patients with dystrophia myotonica type I
- to assess the frequency of auto-antibody formation in patients with
dystrophia myotonica type II compared to patients with dystrophia myotonica
type I
Study design
Observational study comparing two cohorts
Study burden and risks
venous blood punction (hematoma)
Hengstdal 3
6522JV
Nederland
Hengstdal 3
6522JV
Nederland
Listed location countries
Age
Inclusion criteria
dystrophia myotonica type II
informed consent
Exclusion criteria
none
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 | NL18871.091.07 |