Oculopharyngeal Muscular Dystrophy
Conditions
Keywords
OPMD
Brief summary
The objective of this study is to test a set of clinical outcome measures longitudinally in a cohort of OPMD patients to identify ones that show quantifiable change over time as the disease progresses. The investigators' goal is to delineate the natural history of OPMD.
Detailed description
OPMD patients will undergo a screening evaluation and testing to confirm the participants carry the OPMD mutation. Subjects fulfilling the inclusion/exclusion criteria will be enrolled and followed prospectively at regular intervals to determine the natural history of this disease. Measures of muscle function and swallowing will be made at baseline and at follow-up visits to measure natural clinical progression.
Interventions
OTHERNon-interventional study
Non-interventional study
Sponsors
University of Florida
University of New Mexico
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 99 Years
Healthy volunteers
No
Inclusion criteria
* OPMD by genetic criteria * ≥ 18 years old * English-speaking
Exclusion criteria
* Another medical condition that precludes safe completion of study tasks (such as severe cardiac or respiratory disease) * Another medical condition that causes symptoms similar to OPMD (i.e., ptosis, dysphagia \[trouble swallowing\] or limb weakness). * History of head or neck cancer, or history of radiation to the head or neck * A videofluoroscopic swallow study within the 12 months prior to study enrollment
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Muscle Strength over time | Baseline and every 9 months for 3 years | Change in Manual muscle testing over time |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Dysphagia severity over time | Baseline and every 9 months for 3 years | Videofluoroscopic Swallow Studies |
Outcome results
None listed