Natural History Study of Oculopharyngeal Muscular Dystrophy

Withdrawn

• Conditions: Oculopharyngeal Muscular Dystrophy
• Interventions: Other: Non-interventional study

• Registration Number: NCT03161847
• Lead Sponsor: University of New Mexico

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.

Study Timeline

• Study Start: 2016-12-12
• Status Verified: 2017-05
• Study First Submitted: 2017-05-16
• Study First Submitted QC: 2017-05-18
• Study First Posted: 2017-05-22
• Primary Completion: 2018-07-18
• Study Completion: 2018-07-18
• Last Update Submitted: 2022-05-23
• Last Update Posted: 2022-05-27

Recruitment & Eligibility

• Status: WITHDRAWN
• Sex: All
• Target Recruitment: Not specified

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
OPMD Subjects	Non-interventional study	The study cohort consists of individuals with genetically confirmed OPMD who will be followed longitudinally using periodic standardized assessments of clinical status in an observational, non-interventional study.

Primary Outcome Measures

Name	Time	Method
Muscle Strength over time	Baseline and every 9 months for 3 years	Change in Manual muscle testing over time

Secondary Outcome Measures

Name	Time	Method
Dysphagia severity over time	Baseline and every 9 months for 3 years	Videofluoroscopic Swallow Studies