We aim at investigating the role played by the innate and adaptive immune system and orienting a proper treatment. We will evaluate the percentage and features of circulating activated immune cells and cytokine production. As a second step, we will…
ID
Source
Brief title
Condition
- Muscle disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
We expect to better understand if and which role inflammation plays in the
disease pathogenesis by evaluating the following outcomes: percentage and
features of PBMC, cytokine profiling and autoantibodies inquiry both in FSHD1
patients and in healthy controls. Moreover, disease severity of FSHD patients
will be assessed using a clinical severity score (Ricci-score).
Secondary outcome
not applicable
Background summary
Facioscapulohumeral dystrophy (FSHD) is one of the most prevalent inherited
myopathies and, although the role of inflammation in its pathogenesis is
strongly suggested, evidence in literature remains equivocal. Recent studies
describe muscle inflammatory infiltrates mainly composed by CD8+ T cells in
muscles showing hyperintensity features on T2-weighted short tau inversion
recovery magnetic resonance imaging (T2-STIR-MRI) sequences. A further
understanding of the inflammatory mechanism involved is crucial, especially as
it may open up new possibilities for pharmaceutical interventions,
anti-inflammatory drugs being available.
Study objective
We aim at investigating the role played by the innate and adaptive immune
system and orienting a proper treatment. We will evaluate the percentage and
features of circulating activated immune cells and cytokine production. As a
second step, we will investigate the reactivity of FSHD patient sera with human
skeletal muscle protein extracts to detect autoantibodies.
Study design
We will perform a case-control study to evaluate peripheral blood mononuclear
cells (PBMC), cytokine profiling, autoantibodies finding.
Study burden and risks
A total of 10 subjects will be included and invited for one visit at the
outpatient clinic of the department of neurology at the Radboudumc. During the
visit, medical and family history will be collected and a clinical examination
will be performed. A total volume of approximately 50 mL will be taken via
venipuncture from each participant: 4 blood samples of 10mL EDTA and 1 sample
of 10 mL serum. The blood sampling collection has numerous advantages:
affordable, rapid, easy to obtain, availability of several body sites.
Furthermore, there are minimal associated risks: bleeding, a slight risk of
infection, fainting or feeling light-headed. These risks can be controlled and
avoided by antiseptic measures and expert personnel. This study has a
considerable relevance, as inflammation is a potential key to new treatment
strategies. Therefore, participation of patients and healthy volunteers is
crucial to gain insight into this debilitating disease.
Reinier Postlaan 4
Nijmegen 6525 GC
NL
Reinier Postlaan 4
Nijmegen 6525 GC
NL
Listed location countries
Age
Inclusion criteria
-18-65 year old
-Genetically confirmed FSHD1
Exclusion criteria
-Age <18 or > 65 years old
-Diabetes mellitus
-Chronic obstructive pulmonary disease
-Current malignancy
-Previous treatment with chemotherapy and/or radiation therapy
-Use of corticosteroids during more than two weeks in the past 5 years
-Use of statins in the past year
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 | NL57308.091.16 |