NCT02766985

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).

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
44

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Mar 2016

Geographic Reach
1 country

2 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 1, 2016

Completed
21 days until next milestone

First Submitted

Initial submission to the registry

March 22, 2016

Completed
2 months until next milestone

First Posted

Study publicly available on registry

May 10, 2016

Completed
11 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 18, 2017

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

April 18, 2017

Completed
Last Updated

April 12, 2018

Status Verified

April 1, 2018

Enrollment Period

1.1 years

First QC Date

March 22, 2016

Last Update Submit

April 11, 2018

Conditions

Facioscapulohumeral Muscular Dystrophy

Keywords

FSHDmuscular dystrophy

Outcome Measures

Primary Outcomes (1)

  • FSHD Clinical Severity Scale

    Measure severity of FSHD.

    1 day

Secondary Outcomes (8)

  • Brooks scale

    1 day

  • Vignos scale

    1 day

  • Iowa Oral Performance Instrument (IOPI)

    1 day

  • Manual muscle testing

    1 day

  • Quantitative strength testing

    1 day

  • +3 more secondary outcomes

Study Arms (1)

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.

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Particpants with genetically verified FSHD types 1 and 2.

You may qualify if:

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

You may not qualify if:

  • Do not understand English
  • Unable to provide informed consent

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

University of Utah

Salt Lake City, Utah, 84112, United States

Location

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.

MeSH Terms

Conditions

Muscular Dystrophy, FacioscapulohumeralMuscular Dystrophies

Condition Hierarchy (Ancestors)

Muscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Jeffrey Statland, MD

    University of Kansas Medical 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

March 22, 2016

First Posted

May 10, 2016

Study Start

March 1, 2016

Primary Completion

April 18, 2017

Study Completion

April 18, 2017

Last Updated

April 12, 2018

Record last verified: 2018-04

Locations

US(2)