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Towards a clinical trial for oculopharyngeal muscular dystrophy (OPMD) - natural history and outcome measures.

Completed
Conditions
oculopharyngeal muscular dystrophy
OPMD
10029299
Registration Number
NL-OMON42807
Lead Sponsor
Radboud Universitair Medisch Centrum
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Completed
Sex
Not specified
Target Recruitment
80
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.

Study & Design

Study Type
Observational non invasive
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod
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