Working...
ClinicalTrials.gov
ClinicalTrials.gov Menu

Clinical Trial Readiness Network FSHD France: Prospective 18 Months MRI Study (ReSOLVE_France)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT04038138
Recruitment Status : Not yet recruiting
First Posted : July 30, 2019
Last Update Posted : July 30, 2019
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Nice

Brief Summary:

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 (FSH-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 Nice University Hospital is conducting a monocentric, prospective, 18 month study on 30 subjects.


Condition or disease Intervention/treatment Phase
Muscular Dystrophy Facioscapulohumeral Diagnostic Test: Validation of FSHD in French as COA Not Applicable

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 30 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Other
Official Title: Clinical Trial Readiness Network FSHD France: Prospective 18 Months MRI Study
Estimated Study Start Date : September 5, 2019
Estimated Primary Completion Date : September 5, 2021
Estimated Study Completion Date : February 5, 2022

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
Experimental: Patient with muscular dystrophy Diagnostic Test: Validation of FSHD in French as COA
FSHD Genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on clinical examination and an affected parent or offspring




Primary Outcome Measures :
  1. Validate FSHD-COM in French as COA [ Time Frame: at 18 months ]
    The FSHD-COM is an 18-item evaluator-administered instrument comprised of individually validated functional motor tasks. The body regions represented match areas of importance identified by patients and include: leg function; shoulder and arm function; trunk function, hand function; and balance. Each item is scored on a 0-4 scale, with 0 representing unaffected/normal performance, and the divisions based on healthy population normative values, or the relative degree of ability to perform the functional task. The total scale has 72 points, with larger weight given to the two most frequently patient-cited areas of functional motor concern - leg function and shoulder and arm function.


Secondary Outcome Measures :
  1. Motor Function Measure Domain 1 [ Time Frame: at 18 months ]
    The MFM domain 1 is a validated evaluator administered functional measure for neuromuscular disorders, with 13 items related to standing and transfers87. There are standard instructions for administration and takes about 10 minutes to perform.

  2. Severity Scores (CSS) [ Time Frame: at 18 months ]
    A limited physical exam and strength testing will be used to derive two FSHD clinical severity scores. These severity scores both rank weakness in the face, shoulders, arms, distal, and proximal lower extremities on either a 10 (CSS) or 15 point scale (FCS).

  3. Severity Scores (FCS) [ Time Frame: at 18 months ]
    A limited physical exam and strength testing will be used to derive two FSHD clinical severity scores. These severity scores both rank weakness in the face, shoulders, arms, distal, and proximal lower extremities on either a 10 (CSS) or 15 point scale (FCS).

  4. Strength testing [ Time Frame: at 18 months ]
    Strength testing will be performed using manual muscle testing (MMT) and maximal isometric hand grip strength using a hand held force dynamometer, and quantitative myometry

  5. Fall assessments [ Time Frame: at 18 months ]
    Questionnaire about physical exercise will be collected at inclusion, Month 3, 12 and 18, and weekly using a patient diary between M6 and M6

  6. Exercise Questionnaire [ Time Frame: at 18 months ]
    Questionnaire about physical exercise will be collected at inclusion, Month 3, 12 and 18.

  7. Patient-Reported Outcomes Measurement Information System-57 (PROMIS57) [ Time Frame: at 18 months ]
    is an instrument developed by the NIH PROMIS initiative. It has been tested in general populations and generates scores for physical function, and the impact of physical limitations on daily life,

  8. The Upper Extremity Functional Index [ Time Frame: at 18 months ]
    This index measures upper extremity dysfunction. 20 questions are combined into a total score, the score is transformed into a normalized score with 80 representing normal, and lower scores representing increasing disability.

  9. The Facial Disability Index (FDI) [ Time Frame: at 18 months ]
    The FDI is a short 5 item questionnaire. The five questions are summed into total score which transformed onto a percentage scale, with 100 representing normal, and lower scores representing increasing disability.

  10. Iowa Oral Performance Instrument (IOPI) [ Time Frame: at 18 months ]
    IOPI is a means to quantify lip, tongue, and buccal strength using a validated tool with published ranges for normative data for lingual measurements,

  11. Whole body and regional lean muscle mass (LMM) [ Time Frame: at 18 months ]
    Whole body and regional lean muscle mass (LMM) will be measured via Dual Energy X-Ray Absorptiometry (DEXA).

  12. Muscle Magnetic Resonance Imaging [ Time Frame: at 18 months ]
    Muscle MRI studies will be performed on a 1.5 Tesla equipment at Inclusion, Month 12 and 18,

  13. Respiratory Function [ Time Frame: at 18 months ]
    The researchers will obtain forced vital capacity and forced expiratory volume in 1 second using bedside spirometry.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   18 Years to 75 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria

  • Genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring 63
  • Age 18-75 years
  • Symptomatic limb weakness
  • Patient able to walk alone or with a walking aid.
  • Manual Muscle Testing (MMT) score ≥ 4 for one of the lower limb muscles
  • Patient affiliated to the social security system
  • Patient giving written consent after written and oral information.
  • If taking over the counter supplements willing to remain consistent with supplement regimen throughout the course of the study

Exclusion Criteria

  • Cardiac or respiratory dysfunction (deemed clinically unstable, or would interfere with safe testing in the opinion of the Investigator)
  • Orthopedic conditions that preclude safe testing of muscle function
  • Regular use of available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists
  • Use of an experimental drug in an FSHD clinical trial within the past 30 days
  • Pregnancy.
  • Contraindication for muscle MRI
  • Any major comorbidity

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04038138


Contacts
Layout table for location contacts
Contact: Vanina OLIVERI, PM 0033 4 92 03 42 54 oliveri.v@chu-nice.fr

Sponsors and Collaborators
Centre Hospitalier Universitaire de Nice

Layout table for additonal information
Responsible Party: Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier: NCT04038138     History of Changes
Other Study ID Numbers: 19-PP-04
First Posted: July 30, 2019    Key Record Dates
Last Update Posted: July 30, 2019
Last Verified: July 2019

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Layout table for MeSH terms
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn