Defining Endpoints in Becker Muscular Dystrophy

• Research type

  Research Study

• Full title

  Defining Endpoints in Becker Muscular Dystrophy

• IRAS ID

  323928

• Contact name

  Jordi Diaz-Manera

• Contact email

  Jordi.Diaz-Manera@newcastle.ac.uk

• Sponsor organisation

  Virginia Commonwealth University

• Clinicaltrials.gov Identifier

  NCT05257473

• Duration of Study in the UK

  2 years, 11 months, 30 days

• Research summary

  This study is a project created to capture the natural history data on patients with Becker muscular dystrophy.
  Becker muscular dystrophy (BMD) is an inherited disease which is most frequently caused by gene mutations that result in deficient production of a protein called dystrophin. The dystrophin protein works to strengthen muscle fibres and protect them from injury; reduced dystrophin results in muscle wasting.
  There is wide variation in the severity of progression and the age of onset, ranging from childhood to late adulthood.
  We do not understand the progression of BMD as measured by standard clinical outcome assessments (COAs) or the disease progression in specific muscles. This means that we lack tools to document the effectiveness of therapies or clinical interventions. The study will recruit 80 participants with BMD at 12 GRASP sites. In a subset of 50 patients MR data will be collected at selected imaging sites. Participants will complete 24 months in this study and will attend 4 study visits. This study seeks to address gaps in our understanding of COAs for BMD by:
  1) validating the motor scale, North Star Assessment for limb girdle type muscular dystrophies (NSAD), in BMD for drug registration studies, including determining the reliability, variability and responsiveness in the NSAD for statistical analysis;
  2) assessing the reliability and variability of other commonly used COAs; and
  3) establishing site clinical trial readiness through standardised training and ongoing quality control to enable multi-site studies.
  In addition, in a subgroup of patients, this study seeks to validate magnetic resonance imaging and spectroscopy measures of the lower extremity muscles, which includes determining the responsiveness of measures of muscle fat for the purpose of statistical analysis. The results of this study are expected to be directly used by academic researchers and industry to help in planning forthcoming BMD clinical trials.
  

• REC name

  South East Scotland REC 01

• REC reference

  23/SS/0032

• Date of REC Opinion

  14 Mar 2024

• REC opinion

  Further Information Favourable Opinion