Natural History Study of Oculopharyngeal Muscular Dystrophy

University of New Mexico

Overview

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.

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.

Study Type

OBSERVATIONAL

Conditions

Oculopharyngeal Muscular Dystrophy

Interventions

Non-interventional studyOTHER

Non-interventional study

Eligibility

Sex: ALLMin age: 18 YearsMax age: 99 Years

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

Muscle Strength over time

Change in Manual muscle testing over time

Time frame: Baseline and every 9 months for 3 years

Secondary Outcomes

Dysphagia severity over time

Videofluoroscopic Swallow Studies

Time frame: Baseline and every 9 months for 3 years

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.