Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD

NCT ID: NCT03458832

Last Updated: 2025-04-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

320 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-03-05

Study Completion Date

2027-12-31

Brief Summary

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The primary cause of facioscapulohumeral muscular dystrophy (FSHD), a common adult-onset dystrophy, was recently discovered identifying targets for therapy. As multiple drug companies pursue treatments for FSHD, there is an urgent need to define the clinical trial strategies which will hasten drug development, including creating disease-relevant outcome measures and optimizing inclusion criteria. This proposal will develop two new outcome measures (FSHD-COM and EIM) and optimize eligibility criteria by testing 320 patients across 14 international sites over a period of 24 months.

Detailed Description

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The overall aim of this study is to hasten drug development for facioscapulohumeral muscular dystrophy (FSHD). Recent breakthroughs in FSHD research have identified the primary disease mechanism as the aberrant expression of a normally silenced gene, DUX4, resulting in a toxic gain-of-function. This disease mechanism is particularly amenable to knock-down of DUX4 using epigenetic strategies or RNA therapies, as well as to other interventions targeting the downstream effects of DUX4 expression. There are many drug companies actively working towards disease-targeted therapies, and two clinical trials either under way now, or planned to start in early Fall 2016. However, meetings with industry, advocacy groups, and FSHD researchers have identified several gaps in the clinical trial arsenal, and clinical trial planning as a major goal for the community. Consequently, there is an urgent need to establish the tools necessary for the conduct of currently planned and expected therapeutic trials in FSHD.

To this end, the researchers propose to develop two novel clinical outcome assessments (COA), a composite functional outcome measure (FSHD-COM) and skeletal muscle biomarker, electrical impedance myography (EIM). In addition, there is broad consensus a better understanding of the relationship of genetic and demographic features to disease progression will be necessary for enumerating eligibility criteria.

The specific aims are to: 1. Determine the multi-site validity of the COAs, 2. Compare the responsiveness of new COAs to other FSHD outcomes and determine the minimal clinically meaningful changes, and 3. establish FSHD cohort characteristics useful for determining clinical trial eligibility criteria. To achieve these aims, the researchers are conducting a multicenter, prospective, 24 months study of 320 subjects.

Conditions

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Facioscapulohumeral Muscular Dystrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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FSHD-COM

All participants will be asked to undergo FSHD-specific functional rating scale tests and procedures and Electrical Impedance Myography.

FSHD-specific functional rating scale

Intervention Type DIAGNOSTIC_TEST

The FSHD-COM is composed of disease-relevant functional tasks such as leg function; shoulder and arm function; trunk function, hand function, and balance.

Electrical Impedance Myography

Intervention Type DEVICE

EIM is a non-invasive, painless, and fast technique for obtaining information on how a patient's muscle structure is changing. EIM uses a small electrical current to measure the health of the underlying muscle. The patient will be asked to lie down and a trained clinical evaluator will perform testing on 16 total muscles (8 on each side) on your arms and legs.

Interventions

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FSHD-specific functional rating scale

The FSHD-COM is composed of disease-relevant functional tasks such as leg function; shoulder and arm function; trunk function, hand function, and balance.

Intervention Type DIAGNOSTIC_TEST

Electrical Impedance Myography

EIM is a non-invasive, painless, and fast technique for obtaining information on how a patient's muscle structure is changing. EIM uses a small electrical current to measure the health of the underlying muscle. The patient will be asked to lie down and a trained clinical evaluator will perform testing on 16 total muscles (8 on each side) on your arms and legs.

Intervention Type DEVICE

Other Intervention Names

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FSHD-COM EIM

Eligibility Criteria

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Inclusion Criteria

* Patients with genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring
* Patients with symptomatic limb weakness
* Patients must be able to walk 30 feet without the support of another person or assistance (canes, walking sticks, and braces allowed; no walker).
* If taking over the counter supplements, willing to remain consistent with supplement regimen throughout the course of the study

Exclusion Criteria

* Patients with cardiac or respiratory dysfunction (deemed clinically unstable, or would interfere with safe testing, in the opinion of the Investigator)
* Patients with orthopedic conditions that preclude safe testing of muscle function
* Patients that regularly use available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists
* Patients that have used an experimental drug in an FSHD clinical trial within the past 30 days
* Patients that are pregnant
Minimum Eligible Age

18 Years

Maximum Eligible Age

75 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role collaborator

FSHD Society

OTHER

Sponsor Role collaborator

Friends Research Institute, Inc.

OTHER

Sponsor Role collaborator

Muscular Dystrophy Association

OTHER

Sponsor Role collaborator

AFM Telethon

UNKNOWN

Sponsor Role collaborator

University of Rochester

OTHER

Sponsor Role collaborator

Leiden University Medical Center

OTHER

Sponsor Role collaborator

Dyne Therapeutics

INDUSTRY

Sponsor Role collaborator

University of Kansas Medical Center

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Jeffrey Statland, MD

Role: PRINCIPAL_INVESTIGATOR

University of Kansas Medical Center

Rabi Tawil, MD

Role: PRINCIPAL_INVESTIGATOR

University of Rochester

Locations

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University of California Los Angeles

Los Angeles, California, United States

Site Status COMPLETED

University of Kansas Medical Center

Kansas City, Kansas, United States

Site Status COMPLETED

Kennedy Krieger Institute

Baltimore, Maryland, United States

Site Status COMPLETED

University of Rochester Medical Center

Rochester, New York, United States

Site Status COMPLETED

The Ohio State University

Columbus, Ohio, United States

Site Status COMPLETED

University of Utah

Salt Lake City, Utah, United States

Site Status COMPLETED

Virginia Commonwealth University

Richmond, Virginia, United States

Site Status COMPLETED

University of Washington

Seattle, Washington, United States

Site Status COMPLETED

Chu De Nice

Nice, , France

Site Status ACTIVE_NOT_RECRUITING

Institut de Myologie

Paris, , France

Site Status RECRUITING

Ludwig-Maximilians-Universität München

München, , Germany

Site Status RECRUITING

Centro Clinico NeMO

Milan, , Italy

Site Status RECRUITING

Radboud Unviersity

Nijmegen, , Netherlands

Site Status COMPLETED

University of College London - Queens Square

London, , United Kingdom

Site Status RECRUITING

Countries

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United States France Germany Italy Netherlands United Kingdom

Central Contacts

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Michaela Walker

Role: CONTACT

913-945-9920

Leann Lewis

Role: CONTACT

585-275-7680

Facility Contacts

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Thiziri Iassamen

Role: primary

+33 01 42 16 22 41

Smail Ait Mohand

Role: backup

+ 33 01 42 16 37 63

Corrina Wirner-Piotrowski, MSc

Role: primary

+49 89440057071

Natalia Garcia Angarita, MD

Role: backup

+49 89440057470

Caterina Lazzaro

Role: primary

+39 02 91433764

Erica Di Natale

Role: backup

+39 02 91433764

Louise Germain

Role: primary

0203 108 6308

Iwona Skorupinska

Role: backup

0203 108 7515

References

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LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R; ReSolve Investigators and the FSHD CTRN18. Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study. BMC Neurol. 2019 Sep 10;19(1):224. doi: 10.1186/s12883-019-1452-x.

Reference Type DERIVED
PMID: 31506080 (View on PubMed)

Other Identifiers

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U01NS101944

Identifier Type: NIH

Identifier Source: secondary_id

View Link

STUDY00140842

Identifier Type: -

Identifier Source: org_study_id

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