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Defining Endpoints in Becker Muscular Dystrophy (GRASP-01-002)

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: NCT05257473
Recruitment Status : Recruiting
First Posted : February 25, 2022
Last Update Posted : April 3, 2023
Sponsor:
Collaborator:
Edgewise Therapeutics, Inc.
Information provided by (Responsible Party):
Virginia Commonwealth University

Study Description
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Brief Summary:
This is a 24-month, observational study of 150 participants with Becker muscular dystrophy (BMD)

Condition or disease
Becker Muscular Dystrophy Muscular Dystrophies Muscular Dystrophy in Children Muscular Dystrophy, Becker

Detailed Description:
Becker Muscular Dystrophy (BMD) is most frequently due to in-frame mutations in the dystrophin gene that are associated with reduced levels of frequently shortened dystrophin, though other mutations may be related to the Becker phenotype. There is wide variation in the age of onset and degree of progression, ranging from childhood to late adulthood. The more severe form of dystrophinopathy, Duchenne muscular dystrophy, has a more characteristic rate of progression and overall natural history. The wide variation in severity of progression has led to challenges in the design and conduct of approaching therapeutic trials. There is a need for a more rigorous natural history study to assist in the design of these promising therapeutic trials.
Study Design
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Study Type : Observational
Estimated Enrollment : 150 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Defining Endpoints in Becker Muscular Dystrophy
Actual Study Start Date : April 13, 2022
Estimated Primary Completion Date : May 2024
Estimated Study Completion Date : January 2025

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. To assess the natural history of measures of muscle function in BMD [ Time Frame: Through study completion, an average of 2 years ]
    North Star Assessment for LGMD (NSAD: The NSAD is a functional scale specifically designed to measure motor performance in individuals with LGMD and is being evaluated in BMD due to the similar limb-girdle pattern of weakness. It consists of 29 items that are considered clinically relevant items from the adapted North Star Ambulatory Assessment and the Motor Function Measure 20 with a maximum score of 54 and higher scores indicate higher functional abilities.

  2. 4-Stair Climb [ Time Frame: Through study completion, an average of 2 years ]
    Participants will perform the 4-stair climb with instructions to ascend 4 steps as quickly and as safely possible, using handrails if needed.

  3. 100-Meter Timed Test [ Time Frame: Through study completion, an average of 2 years ]
    The participant will be asked to complete 4 laps around 2 cones set 25 meters apart as quickly as safely possible, running if able and the time in seconds is recorded.

  4. PERFORMANCE OF UPPER LIMB 2.0 (PUL) [ Time Frame: Through study completion, an average of 2 years ]
    The PUL is a tool designed for assessing upper limb function in persons with neuromuscular disorders.

  5. HAND HELD DYNAMOMETRY (HHD) AND GRIP [ Time Frame: Through study completion, an average of 2 years ]
    Hand held dynamometry using the MicroFET2 myometer will be utilized to capture isometric strength in target muscle groups. Maximum strength in kilograms will be reported for each muscle group provided a continuous scale variable for analysis. CITEC myometer will be used to measure the and Grip of the subject. These pinch and grip techniques will also capture the maximum strength in newtons for the muscle groups involved.

  6. TIMED UP-AND-GO (TUG) [ Time Frame: Through study completion, an average of 2 years ]
    The TUG will be administered using the appropriate stable seating surface (i.e., cube chair or straight back chair) to achieve 90 degree of both hip and knee flexion when participant is seated with both feet flat on the floor to start. The test should be performed barefoot. The fastest time to stand from the chair, walk 3 meters, and return to seated, will be recorded.

  7. Measures of Pulmonary Function (Seated and supine FVC) [ Time Frame: Through study completion, an average of 2 years ]
    Spirometry will be performed in a sitting and supine position using standardized equipment. Forced vital capacity (FVC) sitting and supine.

  8. Measures of Pulmonary Function (MEP and MIP) [ Time Frame: Through study completion, an average of 2 years ]
    Sitting maximal expiratory and inspiratory pressures (MEP and MIP) will be assessed.

  9. Measures of Pulmonary Function (other) [ Time Frame: Through study completion, an average of 2 years ]
    Use of nocturnal or daytime positive pressure ventilation (PPV) (e.g., BiPAP or CPAP) will be recorded.

  10. Measure of ejection fraction (ECHO) [ Time Frame: Through study completion, an average of 2 years ]
    A transthoracic echocardiogram (ECHO) will be performed. Measures of ejection fraction will be recorded.

  11. Measure of systolic and diastolic function (ECHO) [ Time Frame: Through study completion, an average of 2 years ]
    A transthoracic echocardiogram (ECHO) will be performed. Measures of presence of systolic and diastolic function will be recorded.


Other Outcome Measures:
  1. To assess the natural history of MR measures of muscle quality in BMD [ Time Frame: Through study completion, an average of 2 years ]
    MAGNETIC RESONANCE IMAGING FAT FRACTION: This assessment measures fat fraction using chemical shift-based, often called Dixon, imaging and will be performed in axial plane at the thigh and lower leg.

  2. MAGNETIC RESONANCE IMAGING TRANSVERSE RELAXATION TIME (T2) [ Time Frame: Through study completion, an average of 2 years ]
    This assessment measures muscle quality using T2 weighted imaging and will be performed in axial plane at the thigh and lower leg.

  3. MAGNETIC RESONANCE SPECTROSCOPY TRANSVERSE RELAXATION TIME (T2) [ Time Frame: Through study completion, an average of 2 years ]
    Single voxel multiecho magnetic resonance spectra will be acquired for the calculation of water transverse relaxation time.

  4. Biomarker Assessment - Blood Sampling [ Time Frame: Through study completion, an average of 2 years ]
    A blood sample will be collected at the baseline visit to obtain DNA samples for biomarker discovery. Serum will be collected at each in-person visit for other exploratory biomarkers. These samples will be stored in the biorepository, and provide the foundation for future pilot projects, and serve as a resource to the greater BMD community.


Biospecimen Retention:   Samples With DNA
Blood samples will be taken for biomarker development and retained for future research. No clinical diagnosis will be given to patients.

Eligibility Criteria
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Ages Eligible for Study:   8 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Gender Based Eligibility:   Yes
Gender Eligibility Description:   Becker Muscular Dystrophy affects males.
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Individuals age 8+ who are clinically affected with Becker Muscular Dystrophy
Criteria

Inclusion Criteria:

For ages 8-16

  • Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with BMD)
  • Genetic confirmation of an in-frame dystrophin mutation
  • Ambulatory
  • Willing and able to give informed consent and follow all procedures and requirements

For ages 17-older

  • Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with BMD)
  • Genetic confirmation of a dystrophin mutation
  • Willing and able to give informed consent and follow all procedures and requirements

For participants in the MRI substudy:

• Ambulatory, as defined as able to walk 10 meters without assistive devices (orthotics allowed)

Exclusion Criteria:

For ages 8-16

  • Out of frame dystrophin mutation
  • Use of chronic corticosteroids at baseline, defined as greater than 6 months of chronic use, will be limited to 20% of the overall population
  • Non-ambulatory, defined as the inability to walk 10 meters without assistive device (excluding orthotics)
  • >16 hours of ventilatory support
  • Any other illness that would interfere with the ability to undergo safe testing or would interfere with interpretation of the results in the opinion of the site investigator.
  • Under the age of 8 at time of enrollment
  • For MR Cohort: Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia)

For ages 17-older

  • Loss of ambulation prior to age 16
  • Use of chronic corticosteroids, defined as greater than 6 months of chronic use, will be limited to 20% of the overall population
  • Less than 30% of the overall population will be non-ambulatory, defined as the inability to walk 10 meters without assistive device (excluding orthotics)
  • >16 hours of ventilatory support
  • For MR Cohort: Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia)
Contacts and Locations
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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): NCT05257473


Contacts
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Contact: Ruby Langeslay 804-828-8481 ruby.langeslay@vcuhealth.org
Contact: Jennifer Raymond, MD 804-828-6318 jennifer.raymond@vcuhealth.org

Locations
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United States, California
University of California, Irvine Recruiting
Orange, California, United States, 92868
Contact: Lauren Harris    714-509-2661    lnharri1@hs.uci.edu   
Contact: Isela Hernandez    714-509-2664    iselah@hs.uci.edu   
Principal Investigator: Tahseen Mozaffar, MD         
United States, Colorado
University of Colorado Anschutz Medical Campus Recruiting
Aurora, Colorado, United States, 80045
Contact: Alyssa Avilez       alyssa.avilez@cuanschutz.edu   
Contact: Talia Strahler       talia.strahler@cuanschutz.edu   
Principal Investigator: Stacy Dixon, MD         
United States, Iowa
University of Iowa Recruiting
Iowa City, Iowa, United States, 52242
Contact: Benjamin Pappas       benjamin-pappas@uiowa.edu   
Contact: Carrie Stephan    319-356-2673    carrie-stephan@uiowa.edu   
Principal Investigator: Katherine Mathews, MD         
United States, Kansas
Kansas University Medical Center Recruiting
Kansas City, Kansas, United States, 66160
Contact: Kaylene Whited    913-574-0009    kwhited9@kumc.edu   
Contact: Michaela Walker       mwalker20@kumc.edu   
Principal Investigator: Jeffrey Statland, MD         
United States, Maryland
Kennedy Krieger Institute Recruiting
Baltimore, Maryland, United States, 21205
Contact: Georgina DSanson       DSanson@kennedykrieger.org   
Contact: Mary Yep    443-923-7318    yep@kennedykrieger.org   
Principal Investigator: Doris Leung, MD         
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55455
Contact: Allison Johnston       joh21779@umn.edu   
Contact: John Martone       marto045@umn.edu   
Principal Investigator: Peter Kang, MD         
United States, Missouri
Washington University School of Medicine Recruiting
Saint Louis, Missouri, United States, 63110
Contact: Stephanie Poelker       spoelker@wustl.edu   
Contact: Michelle Seiffert       mseiffert@wustl.edu   
Principal Investigator: Conrad Weihl, MD         
United States, Ohio
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 43205
Contact: Madison Schmelzer    614-722-6941    Madison.Schmelzer@nationwidechildrens.org   
Contact: Randa Mireb    614-355-3508    Randa.Mireb@nationwidechildrens.org   
Principal Investigator: Linda Lowes, MD         
United States, Virginia
Virginia Commonwealth University Recruiting
Richmond, Virginia, United States, 23298
Contact: Abel Bulti    804-828-1271    abel.bulti@vcuhealth.org   
Contact: Anarosa Rezeq       anarosa.rezeq@vcuhealth.org   
Principal Investigator: Nicholas E. Johnson, MD         
United Kingdom
John Walton Muscular Dystrophy Research Centre Not yet recruiting
Newcastle Upon Tyne, United Kingdom, NE1 4EP
Contact: Nicola McLarty       nicola.mclarty1@nhs.net   
Contact: Dana Gergely       dana.gergely@newcastle.ac.uk   
Principal Investigator: Jordi Diaz-Manera, MD         
Sponsors and Collaborators
Virginia Commonwealth University
Edgewise Therapeutics, Inc.
Investigators
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Principal Investigator: Nicholas E. Johnson, MD Virginia Commonwealth University
More Information
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Responsible Party: Virginia Commonwealth University
ClinicalTrials.gov Identifier: NCT05257473    
Other Study ID Numbers: HM20023412
GRASP-BMD ( Other Identifier: Virginia Commonwealth University )
First Posted: February 25, 2022    Key Record Dates
Last Update Posted: April 3, 2023
Last Verified: March 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Virginia Commonwealth University:
Clinical research
BMD
Becker Muscular Dystrophy
Edgewise Therapeutics
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
 Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked