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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

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.

Condition or disease Intervention/treatment
Oculopharyngeal Muscular Dystrophy Other: Non-interventional study

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.

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Study Type : Observational
Estimated Enrollment : 60 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Natural History Study of Oculopharyngeal Muscular Dystrophy
Estimated Study Start Date : July 2017
Estimated Primary Completion Date : December 2024
Estimated Study Completion Date : December 2024

Group/Cohort Intervention/treatment
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
Non-interventional study

Primary Outcome Measures :
  1. Muscle Strength over time [ Time Frame: Baseline and every 9 months for 3 years ]
    Change in Manual muscle testing over time

Secondary Outcome Measures :
  1. Dysphagia severity over time [ Time Frame: Baseline and every 9 months for 3 years ]
    Videofluoroscopic Swallow Studies

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 99 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Genetically Confirmed Oculopharyngeal Muscular Dystrophy

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03161847

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Contact: Sarah Youssof, MD, MS 505-272-6354

Sponsors and Collaborators
University of New Mexico
University of Florida
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Principal Investigator: Sarah Youssof, MD, MS University of New Mexico School of Medicine

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Responsible Party: University of New Mexico Identifier: NCT03161847     History of Changes
Other Study ID Numbers: 16-326
First Posted: May 22, 2017    Key Record Dates
Last Update Posted: May 22, 2017
Last Verified: May 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by University of New Mexico:

Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Oculopharyngeal
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn