The primary objective is to identify clinical outcome measures in OPMD patients to support the future development of treatment strategies for OPMD. The secondary objectives are:• To identify molecular biomarkers for OPMD in biofluids to monitor…
ID
Source
Brief title
Condition
- Neurological disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Any regression on the following functions at t=0 and t=18 months will be
collected.
- Degree and extent of muscle weakness. Measured with MRC (Medical Research
Council) scores, dynamometry, and assessment of the maximum bite force (using
the Bite Force Gauge) and the maximum tongue strength (using Iowa Oral
Performance Instrument (IOPI)).
- Fat fraction and degree of inflammation in muscles of legs and pharyngeal
muscles. MRI-scans and muscle ultrasound will be performed.
- Swallow, chewing and speech capacity will be assessed and compared.
Measurements of swallow capacity contains the maximum swallowing speed and
maximum swallowing volume. The chewing capacity will be measured with the
chewing test. Different parts of the standardized Dutch Dysartria Assessment
(NDO-V) will be used to measure speech capacity.
- A structured interview about swallowing and speech function is included. And
an interview on medical history and family history on OPMD.
- The functional motor abilities will be collected and measured with the Motor
Function Measure (MFM) and the 10 steps stairs test.
- Scores on several questionnaires will be analyzed.
- Blood and saliva samples will be collected for DNA- and RNA analysis.
Secondary outcome
Not applicable
Background summary
Oculopharyngeal muscular dystrophy (OPMD) is a rare late onset, usually
autosomal dominant, progressive muscle dystrophy. The dystrophy is
characterized by ptosis, dysphagia, and limb weakness. At the moment natural
history of OPMD is poorly understood and there are no reliable outcome measures
for treatment effects. There is a need for tools to quantify symtpoms of OPMD
for future clinical trials. To investigate and improve assessment of the muscle
function and morphology of orofacial muscles and upper and lower extremity
muscles further research is required. Also swallow capacity, chewing capacity
and speech capacity in OPMD have to be further explored.
Study objective
The primary objective is to identify clinical outcome measures in OPMD patients
to support the future development of treatment strategies for OPMD.
The secondary objectives are:
• To identify molecular biomarkers for OPMD in biofluids to monitor disease
progression and better understand variety in disease
severity.
• To describe the natural history of OPMD over 18 months.
Study design
observational study (longitudinal, cohort study)
Study burden and risks
Participants will be asked for two visits to the outpatient clinic at the
department of neurology/rehabilitation. Their medical history will be taken,
they will undergo a clinical and instrumental examination. Blood samples will
be collected for DNA- and RNA analysis, and for storage at the Radboudumc
biobank. It is possible to get a hematoma from blood venipuncture, this will
recover by itself. Also, participants will undergo a MRI-scan and radiologic
swallow assessment. Complications of MRI -scans or radiologic swallow
assessments are very uncommon. For the radiologic assessment, participants are
a short time exposed to radiation, a restricted number of six swallows is
determined. Participants are given the opportunity to object against any
measurement. The risks of this study are negligible.
Reinier Postlaan 2
Nijmegen 6525 GC
NL
Reinier Postlaan 2
Nijmegen 6525 GC
NL
Listed location countries
Age
Inclusion criteria
- Participants of 18 years and older who have a genetically confirmed diagnosis of OPMD with or without symptoms
- Participants of 18 years and older with a clinically diagnosed OPMD, who give permission for genetic testing for OPMD
Exclusion criteria
- Incapacitated persons will not be included in this study.
Participants can be excluded for parts of the study:
Participants with contra-indications for MRI-scan will not undergo MRI;
Participants who are claustrophobic will not undergo MRI, unless the
participant approves;
Participants who are unable to swallow, hence are dependent of non-oral
feeding or have no oral intake at all will not undergo swallowing tests.
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 | NL54606.091.15 |