Natural History Study of Oculopharyngeal Muscular Dystrophy (NH-OPMD)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03161847
Recruitment Status : Not yet recruiting
First Posted : May 22, 2017
Last Update Posted : May 22, 2017
University of Florida
Information provided by (Responsible Party):
University of New Mexico

May 16, 2017
May 22, 2017
May 22, 2017
July 2017
December 2024   (Final data collection date for primary outcome measure)
Muscle Strength over time [ Time Frame: Baseline and every 9 months for 3 years ]
Change in Manual muscle testing over time
Same as current
No Changes Posted
Dysphagia severity over time [ Time Frame: Baseline and every 9 months for 3 years ]
Videofluoroscopic Swallow Studies
Same as current
Not Provided
Not Provided
Natural History Study of Oculopharyngeal Muscular Dystrophy
Natural History Study of Oculopharyngeal Muscular Dystrophy
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.
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Not Provided
Non-Probability Sample
Genetically Confirmed Oculopharyngeal Muscular Dystrophy
Oculopharyngeal Muscular Dystrophy
Other: Non-interventional study
Non-interventional study
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.
Intervention: Other: Non-interventional study
Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Not yet recruiting
Same as current
December 2024
December 2024   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
18 Years to 99 Years   (Adult, Older Adult)
Contact: Sarah Youssof, MD, MS 505-272-6354
Not Provided
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Plan to Share IPD: No
University of New Mexico
University of New Mexico
University of Florida
Principal Investigator: Sarah Youssof, MD, MS University of New Mexico School of Medicine
University of New Mexico
May 2017