Facio-Scapulo-Humeral DystrophyNCT06096441
FSHD Molecular Characterization
An observational study of Facio-Scapulo-Humeral Dystrophy, run by Nationwide Children's Hospital at 1 site in United States.
Trial summary
To characterize the clinical and molecular phenotype of FSHD. Read more about this study
- Who is it for?
- Ages 13 years and older
- Conditions the study is for
- Facio-Scapulo-Humeral Dystrophy
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 5 Mar 2021to 9 Sep 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 13 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects 13 years or older with facioscapulohumeral muscular dystrophy (FSHD).
Who may be able to join
- 13 years or older
- Genetically proven FSHD1 or FSHD2 as determined by the investigators
Who cannot join
- Inability to complete an MRI scan (Adults only).
- Other medical or cognitive issues that, in the opinion of the examiner, preclude accurate functional assessment.
Trial locations and contacts
1 site in 1 country.
United States1 site
The Abigail Wexner Research Institute at Nationwide Children's Hospital
Columbus, Ohio, 43205
About this study
Official title: Clinical and Molecular Characterization of Facioscapulohumeral Muscular Dystrophy (FSHD)
To characterize the clinical and molecular phenotype of FSHD.
Read the detailed 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.
- Conditions
- Facio-Scapulo-Humeral Dystrophy
- Keywords
- FSHD
- Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Through study completed, anticipated to be 4 years.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Oct 2023
- Study start5 Mar 2021
- Primary completion9 Sep 2025
- Study completion9 Sep 2025
Why it stopped: This study was closed due to inability to to recruit.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Facio-Scapulo-Humeral DystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Nationwide Children's Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Kevin Flanigan, Nationwide Children's Hospital
- Investigators
- Kevin Flanigan, MD, Principal investigator, Nationwide Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06096441
- Sponsor's protocol ID
- STUDY00001521
- Status last verified
- Sep 2025
- First submitted
- 12 Sep 2023
- Last updated
- 18 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: We will be willing to share de-identified data following the execution of a Data Use Agreement.
Publications
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.
PubMed 31209064Jones 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.
PubMed 22798623Snider 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.
PubMed 19359275Wang 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.
PubMed 30312408Yao 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.
PubMed 24861551
Study at a glance
From the registry record, last updated by the sponsor on 18 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Molecular Characterization of Facioscapulohumeral Muscular Dystrophy (FSHD)
- ClinicalTrials.gov ID
- NCT06096441
- Acronym / sponsor ID
- STUDY00001521
- Conditions
- Facio-Scapulo-Humeral Dystrophy
- Keywords
- FSHD
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: This study was closed due to inability to to recruit.
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Nationwide Children's HospitalUniversity, hospital or other
- Study start
- 5 Mar 2021 (actual)
- Primary completion
- 9 Sep 2025 (actual)
- Study completion
- 9 Sep 2025 (actual)
- First posted
- 23 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
To characterize the clinical and molecular phenotype of FSHD.
Detailed 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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 13 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects 13 years or older with facioscapulohumeral muscular dystrophy (FSHD).
Key inclusion criteria (2 listed)
- 13 years or older
- Genetically proven FSHD1 or FSHD2 as determined by the investigators
Key exclusion criteria (2 listed)
- Inability to complete an MRI scan (Adults only).
- Other medical or cognitive issues that, in the opinion of the examiner, preclude accurate functional assessment.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Validation of Biomarkers
Time frame: Through study completed, anticipated to be 4 years.
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.
Results and safety
The study was stopped early (reason given: This study was closed due to inability to to recruit.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Sep 2025.
- Background: PubMed 31209064Amini 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.
- Background: PubMed 22798623Jones 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.
- Background: PubMed 19359275Snider 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.
- Background: PubMed 30312408Wang 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.
- Background: PubMed 24861551Yao 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.
- Individual participant dataSharing planned: Undecided. We will be willing to share de-identified data following the execution of a Data Use Agreement.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kevin Flanigan, MD principal investigator
Nationwide Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Facio-Scapulo-Humeral Dystrophy, run by Nationwide Children's Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 18 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: This study was closed due to inability to to recruit.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Validation of Biomarkers (time frame: Through study completed, anticipated to be 4 years.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06096441, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Sep 2025.