In order to develop treatment strategies guided by the key mechanisms that play a role in dysphagia in OPMD and IBM, the exact pattern of weakness should be identified. The current protocol allows us to test the feasibility of two non-invasive…
ID
Source
Brief title
Condition
- Muscle disorders
- Neuromuscular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
A. to establish the pattern of weakness in a predefined set of muscles in
patients with IBM with and without clinical evidence of dysphagia.
B. to compare the findings in dysphagic IBM patients with another neuromuscular
disease that causes dysphagia: OPMD.
C. to evaluate the use of novel diagnostic tools in dysphagia, to develop a
diagnostic protocol in neuromuscular diseases to evaluate dysphagia with
minimal invasive techniques.
Secondary outcome
A. to promote international collaboration to expand the existing cohorts of
patients affected by these relatively rare diseases.
B. the creation of mechanism-based hypothesis on new treatment strategies in
dysphagia in IBM and OPMD, which might give rise to a follow-up trial.
C. to investigate various outcome measures in IBM with the ultimate goal to
find a sensitive, validated and relevant dysphagia outcome measure, with a high
sensitivity to change, that can be used in upcoming therapeutic trials.
Background summary
Sporadic inclusion body myositis (IBM) is the most frequently occurring
acquired myopathy in patients aged over 50 years. The disease is characterised
by slowly progressive asymmetric muscle weakness, especially the finger flexors
and the quadriceps are affected early in the disease course. Dysphagia is
present in a large subset of patients and can even precede the onset of
generalized weakness with a few years. Oculopharyngeal muscular dystrophy
(OPMD) is another neuromuscular disease that equally affects patients at and
advanced age. The most important clinical characteristics are proximal
weakness, ptosis and dysphagia. Dysphagia can lead to various problems, like
dietary changes, pneumonia and malnutrition. In both diseases, the cause and
pathophysiology of dysphagia i.e. the pattern of affected muscles is unknown.
Up to recently, the analysis of dysphagia was restricted to clinical
observation, combined with videofluoroscopy and oesophageal manometry. These
techniques have some limitations, for example, soft tissues are not optimally
imaged and patients perceive this kind of investigations as burdensome.
Study objective
In order to develop treatment strategies guided by the key mechanisms that play
a role in dysphagia in OPMD and IBM, the exact pattern of weakness should be
identified. The current protocol allows us to test the feasibility of two
non-invasive techniques, quantitative muscle ultrasound (QMUS) and real-time
magnetic resonance imaging (RT-MRI), to assess swallowing in detail. This can
lead to the development of new diagnostic protocols and it will contribute to
the development of validated outcome measures.
Study design
The included patients will undergo a series of testing (physical examination,
questionnaire, swallowing tests, quantitative muscle ultrasound, real-time
MRI).
Study burden and risks
The risks in this protocol are related to RT-MRI: swallowing of a small
quantity of fluids imposes a risk of aspiration of fluids in patients with
severe dysphagia. Furthermore, a first claustrophobic reaction could occur
during the MRI-scan. The scan will take place in Göttingen, which means the
participants will have to travel between the study sites. These risks and
burdens are limited, as the expected results of the study (especially the
development of non-invasive assessment of swallowing) will be of immediate
benefit to the patients.
Reinier Postlaan 4
Nijmegen 6525 GC
NL
Reinier Postlaan 4
Nijmegen 6525 GC
NL
Listed location countries
Age
Inclusion criteria
patients diagnosed with IBM based on the ENMC 2011 criteria *clinicopathologically* or *clinically defined* IBM AND patients diagnosed with OPMD - genetic confirmation (PABPN1 mutation present) who can also be participating in the *Projet Stratégique eOPMD: Pathophysiology and therapeutic approaches in Oculopharyngeal Muscular Dystrophy*
Exclusion criteria
presence of diseases that might significantly influence the results of the current study, including: another neuromuscular disorder other than IBM/OPMD, another degenerative disease that might impede swallowing, significant intellectual impairment which impedes the performance of testing; contraindications to undergo MRI-scanning: the presence of metal (including metal splinters in the eye for example), the presence of electronic devices (e.g. a pacemaker), old clipping of cerebral vessels, body weight >140kg; a known pineapple-juice intolerance of allergy.
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 | NL60136.091.17 |