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Trial record 5 of 33 for:    FSHD

Rasch-analysis of Clinical Severity in FSHD (ROC-FSHD)

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ClinicalTrials.gov Identifier: NCT02766985
Recruitment Status : Completed
First Posted : May 10, 2016
Last Update Posted : April 12, 2018
Sponsor:
Collaborator:
National Institutes of Health (NIH)
Information provided by (Responsible Party):
University of Kansas Medical Center

Brief Summary:
The purpose of this study is to make a standardized and scalable Rasch-built clinical severity scale to help in finding genetic and environmental modifiers of disease in Facioscapulohumeral muscular dystrophy (FSHD).

Condition or disease
Facioscapulohumeral Muscular Dystrophy

Study Type : Observational
Actual Enrollment : 44 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Rasch-analysis of Clinical Severity in FSHD
Study Start Date : March 2016
Actual Primary Completion Date : April 18, 2017
Actual Study Completion Date : April 18, 2017


Group/Cohort
FSHD
Participants with FSHD-1 or FSHD-2. No intervention is given to participants. Participants will undergo series of tests and procedures in order to make a standardized and scalable Rasch-built clinical severity scale.



Primary Outcome Measures :
  1. FSHD Clinical Severity Scale [ Time Frame: 1 day ]
    Measure severity of FSHD.


Secondary Outcome Measures :
  1. Brooks scale [ Time Frame: 1 day ]
    Measures upper extremity function.Scores on the scale range from 1-6. A score of 1 means the person can elevate their arms above their head while arms remain straight. 6 means the person cannot elevate their arms to their mouth and do not have useful function of their hands.

  2. Vignos scale [ Time Frame: 1 day ]
    Measures lower extremity function. Scores on the scale range from 1-10. A score of 1 means the person can walk and climb stairs without assistance. A score of 10 means the person is bedridden.

  3. Iowa Oral Performance Instrument (IOPI) [ Time Frame: 1 day ]
    IOPI measures lip and tongue strength by measuring the amount of pressure a person can exert on the tool.

  4. Manual muscle testing [ Time Frame: 1 day ]
    Measure person's range of motion. Scored on a scale with range of 0-5. Score of 0 means no movement. Score of 5 means the person has a full range of movement.

  5. Quantitative strength testing [ Time Frame: 1 day ]
  6. Functional testing [ Time Frame: 1 day ]
  7. Reparatory function testing [ Time Frame: 1 day ]
  8. Patient-reported outcome [ Time Frame: 1 day ]

Biospecimen Retention:   Samples With DNA
Whole blood samples will be collected and stored for genetic testing. Muscle biopsies are also being collected for future functional assays to verify identified genetic modifiers.


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Particpants with genetically verified FSHD types 1 and 2.
Criteria

Inclusion Criteria:

  • Genetic confirmation of FSHD (either FSHD-1 or FSHD-2)

Exclusion Criteria:

  • Do not understand English
  • Unable to provide informed consent

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 ClinicalTrials.gov identifier (NCT number): NCT02766985


Locations
United States, Kansas
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
United States, Utah
University of Utah
Salt Lake City, Utah, United States, 84112
Sponsors and Collaborators
University of Kansas Medical Center
National Institutes of Health (NIH)
Investigators
Principal Investigator: Jeffrey Statland, MD University of Kansas Medical Center

Responsible Party: University of Kansas Medical Center
ClinicalTrials.gov Identifier: NCT02766985     History of Changes
Other Study ID Numbers: STUDY00003640
UL1TR000001 ( U.S. NIH Grant/Contract )
First Posted: May 10, 2016    Key Record Dates
Last Update Posted: April 12, 2018
Last Verified: April 2018

Keywords provided by University of Kansas Medical Center:
FSHD
muscular dystrophy

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