Natural History Study of Oculopharyngeal Muscular Dystrophy

NCT03161847 | Withdrawn DMC

• 1 other identifier: 16-326
• Study Type: observational
• Target: N/A
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Oculopharyngeal Muscular Dystrophy

Keywords

OPMD

Outcome Measures

Primary Outcomes (1)

• Muscle Strength over time

  Change in Manual muscle testing over time

  Baseline and every 9 months for 3 years

Secondary Outcomes (1)

• Dysphagia severity over time

  Baseline and every 9 months for 3 years

Study Arms (1)

OPMD Subjects

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.

Other: Non-interventional study

Interventions

Non-interventional study OTHER

Non-interventional study

OPMD Subjects

Eligibility Criteria

• Age: 18 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Genetically Confirmed Oculopharyngeal Muscular Dystrophy

You may qualify if:

• OPMD by genetic criteria
• ≥ 18 years old
• English-speaking

You may not qualify if:

• 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

Sponsors & Collaborators

• University of New Mexico: lead
• University of Florida: collaborator

MeSH Terms

Conditions

Muscular Dystrophy, Oculopharyngeal

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Sarah Youssof, MD, MS

  New Mexico Neuromuscular Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 16, 2017
• First Posted: May 22, 2017
• Study Start: December 12, 2016
• Primary Completion: July 18, 2018
• Study Completion: July 18, 2018
• Last Updated: May 27, 2022

Record last verified: 2017-05

Data Sharing

• IPD Sharing: Will not share