NCT06096441

Brief Summary

To characterize the clinical and molecular phenotype of FSHD.

Trial Health

57
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Trial Health Score

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

Enrollment
1

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Mar 2021

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
terminated

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

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 5, 2021

Completed
2.5 years until next milestone

First Submitted

Initial submission to the registry

September 12, 2023

Completed
1 month until next milestone

First Posted

Study publicly available on registry

October 23, 2023

Completed
1.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 9, 2025

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 9, 2025

Completed
Last Updated

September 18, 2025

Status Verified

September 1, 2025

Enrollment Period

4.5 years

First QC Date

September 12, 2023

Last Update Submit

September 12, 2025

Conditions

Facio-Scapulo-Humeral Dystrophy

Keywords

FSHD

Outcome Measures

Primary Outcomes (1)

  • Validation of Biomarkers

    To validate alterations in therapeutically relevant biomarkers in muscle tissue from FSHD participants. Each participant will provide data at a single timepoint. The data in totality will be reviewed upon study completion.

    Through study completed, anticipated to be 4 years.

Eligibility Criteria

Age13 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Subjects 13 years or older with facioscapulohumeral muscular dystrophy (FSHD).

You may qualify if:

  • years or older
  • Genetically proven FSHD1 or FSHD2 as determined by the investigators

You may not qualify if:

  • Inability to complete an MRI scan (Adults only).
  • Other medical or cognitive issues that, in the opinion of the examiner, preclude accurate functional assessment.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

The Abigail Wexner Research Institute at Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Related Publications (5)

  • Amini Chermahini G, Rashnonejad A, Harper SQ. RNAscope in situ hybridization-based method for detecting DUX4 RNA expression in vitro. RNA. 2019 Sep;25(9):1211-1217. doi: 10.1261/rna.070177.118. Epub 2019 Jun 17.

    PMID: 31209064BACKGROUND

  • Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP Jr, Wagner KR, Jones PL. Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. Hum Mol Genet. 2012 Oct 15;21(20):4419-30. doi: 10.1093/hmg/dds284. Epub 2012 Jul 13.

    PMID: 22798623BACKGROUND

  • Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet. 2009 Jul 1;18(13):2414-30. doi: 10.1093/hmg/ddp180. Epub 2009 Apr 9.

    PMID: 19359275BACKGROUND

  • Wang LH, Friedman SD, Shaw D, Snider L, Wong CJ, Budech CB, Poliachik SL, Gove NE, Lewis LM, Campbell AE, Lemmers RJFL, Maarel SM, Tapscott SJ, Tawil RN. MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD. Hum Mol Genet. 2019 Feb 1;28(3):476-486. doi: 10.1093/hmg/ddy364.

    PMID: 30312408BACKGROUND

  • Yao Z, Snider L, Balog J, Lemmers RJ, Van Der Maarel SM, Tawil R, Tapscott SJ. DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle. Hum Mol Genet. 2014 Oct 15;23(20):5342-52. doi: 10.1093/hmg/ddu251. Epub 2014 May 26.

    PMID: 24861551BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Collecting blood products (plasma and serum for RNA and DNA) and muscle biopsies.

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Condition Hierarchy (Ancestors)

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

Study Officials

  • Kevin Flanigan, MD

    Nationwide Children's Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Director, Center for Gene Therapy, Professor of Pediatrics and Neurology

Study Record Dates

First Submitted

September 12, 2023

First Posted

October 23, 2023

Study Start

March 5, 2021

Primary Completion

September 9, 2025

Study Completion

September 9, 2025

Last Updated

September 18, 2025

Record last verified: 2025-09

Locations

US(1)