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

May 23, 2022 updated by: University of New Mexico
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.

Study Overview

Status

Withdrawn

Conditions

Intervention / Treatment

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 Type

Observational

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 99 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Genetically Confirmed Oculopharyngeal Muscular Dystrophy

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Muscle Strength over time
Time Frame: Baseline and every 9 months for 3 years
Change in Manual muscle testing over time
Baseline and every 9 months for 3 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Dysphagia severity over time
Time Frame: Baseline and every 9 months for 3 years
Videofluoroscopic Swallow Studies
Baseline and every 9 months for 3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of New Mexico

Collaborators

University of Florida

Investigators

  • Principal Investigator: Sarah Youssof, MD, MS, New Mexico Neuromuscular Center

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 12, 2016

Primary Completion (Actual)

July 18, 2018

Study Completion (Actual)

July 18, 2018

Study Registration Dates

First Submitted

May 16, 2017

First Submitted That Met QC Criteria

May 18, 2017

First Posted (Actual)

May 22, 2017

Study Record Updates

Last Update Posted (Actual)

May 27, 2022

Last Update Submitted That Met QC Criteria

May 23, 2022

Last Verified

May 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 16-326

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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