FSHD Molecular Characterization

Facio-Scapulo-Humeral Dystrophy Clinical Trial

Official title:

Clinical and Molecular Characterization of Facioscapulohumeral Muscular Dystrophy (FSHD)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06096441
• Other study ID #: STUDY00001521
• Status: Recruiting
• Start date: March 5, 2021
• Est. completion date: March 5, 2026

Study information

• Verified date: October 2023
• Source: Nationwide Children's Hospital
• Contact: Sarah Atkins
• Phone: 614-355-7686
• Email: sarah.atkins[@]nationwidechildrens.org
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

To characterize the clinical and molecular phenotype of FSHD.

Description:

The purpose of this study is to validate alterations in therapeutically relevant biomarkers in muscle tissue from FSHD patients. These biomarkers are responsive to the upregulation of the DUX4 gene and protein, which is the fundamental molecular defect in FSHD. In anticipation of a future clinical trial, the Investigators intend to assess the correlation between the expression of these relevant biomarkers and clinical functional measures. The Investigators will also explore the utility of muscle MRI in identifying regions of muscle suitable for sampling for relevant biomarkers, as MRI-related signal changes have been proposed as an anatomic marker of early FSHD pathology.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 25
• Est. completion date: March 5, 2026
• Est. primary completion date: March 5, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 13 Years and older

Eligibility

Inclusion Criteria:

• 13 years or older

• Genetically proven FSHD1 or FSHD2 as determined by the investigators

Exclusion Criteria:

• Inability to complete an MRI scan (Adults only).

• Other medical or cognitive issues that, in the opinion of the examiner, preclude accurate functional assessment.

Related Conditions & MeSH terms

• Facio-Scapulo-Humeral Dystrophy
• Muscular Dystrophy, Facioscapulohumeral

Locations

Country	Name	City	State
United States	The Abigail Wexner Research Institute at Nationwide Children's Hospital	Columbus	Ohio

Sponsors (1)

Lead Sponsor	Collaborator
Nationwide Children's Hospital

Country where clinical trial is conducted

United States, 

References & 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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.