Summary

Eligibility
for males ages 6 years and up (full criteria)
Location
at Orange, California and other locations
Dates
study started
completion around
Principal Investigator
by Tahseen Mozaffar, MD
Headshot of Tahseen Mozaffar
Tahseen Mozaffar

Description

Summary

This is a 24-month, observational study of 50 participants with Becker muscular dystrophy (BMD)

Details

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.

Keywords

Becker Muscular Dystrophy, Muscular Dystrophies, Muscular Dystrophy in Children, Muscular Dystrophy, Becker, Clinical research, BMD, Edgewise Therapeutics, Duchenne Muscular Dystrophy

Eligibility

You can join if…

Open to males ages 6 years and up

For ages 6-12

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

For ages 13 and older

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

For participants in the MRI substudy:

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

You CAN'T join if...

For ages 6-12

  1. Out of frame dystrophin mutation
  2. Use of chronic corticosteroids at baseline, defined as greater than 6 months of chronic use, will be limited to 20% of the overall population
  3. Non-ambulatory, defined as the inability to walk 10 meters without assistive device (excluding orthotics)
  4. >16 hours of ventilatory support
  5. 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.
  6. Under the age of 6 at time of enrollment
  7. For MR Cohort: Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia)

For ages 13 and older

  1. Loss of ambulation prior to age 16
  2. Use of chronic corticosteroids, defined as greater than 6 months of chronic use, will be limited to 20% of the overall population
  3. Less than 30% of the overall population will be non-ambulatory, defined as the inability to walk 10 meters without assistive device (excluding orthotics)
  4. >16 hours of ventilatory support
  5. Subjects aged 13-16 only: time to rise >10 seconds
  6. For MR Cohort: Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia)

Locations

  • University of California, Irvine accepting new patients
    Orange California 92868 United States
  • University of Colorado Anschutz Medical Campus accepting new patients
    Aurora Colorado 80045 United States

Lead Scientist at UC Irvine

  • Tahseen Mozaffar, MD
    Clinical Professor, Neurology, School of Medicine. Authored (or co-authored) 148 research publications

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Virginia Commonwealth University
ID
NCT05257473
Study Type
Observational
Participants
Expecting 80 study participants
Last Updated