A biomarker and patient-reported outcomes study in Becker muscular dystrophy patients.
Becker muscular dystrophy (BMD) is caused by mutations of the X chromosome dystrophin (DMD) gene that lead to partial deficiency of dystrophin protein in patient skeletal muscle and heart (Hoffman et al. 1989). Becker dystrophy is clinically variable, with symptoms ranging from very mild or asymptomatic (incidental detection of high serum creatine kinase in blood), to progressive weakness with loss of ambulation at 20 years of age. Duchenne muscular dystrophy is also caused by mutations of the same gene, but is a more severe disorder, with progressive weakness from young childhood and loss of ambulation at a younger age (often in the second decade of life). Duchenne dystrophy shows complete loss of dystrophin in muscle (complete dystrophin deficiency), whereas Becker dystrophy shows present, but abnormal dystrophin in patient muscle.
We have previously published protein biomarker studies in Duchenne muscular dystrophy and have identified biomarkers reflective of different cellular aspects of the disease, including myofiber membrane instability, inflammation and fibrosis. Moreover, this previous research has established a subset of these serum biomarkers that are responsive to corticosteroid treatment (prednisone and deflazacort) called 'pharmacodynamic biomarkers' (Hathout et al. 2016). These biomarkers are now utilized in clinical trials of vamorolone that are currently underway in DMD, and are being discussed with FDA and EMA as exploratory biomarkers for efficacy and safety in these clinical trials.
Our goal in this project is to extend these biomarker studies to BMD (partial dystrophin deficiency, in contrast to the complete dystrophin deficiency seen in DMD). This study will lay the groundwork for biomarker-focused clinical trials in Becker muscular dystrophy of drugs such as vamorolone.
The proposed study will carry out a blood and urine biomarker correlation with patient reported clinical severity in Becker muscular dystrophy. This data will also provide baseline data for future clinical trials of drug interventions using pharmacodynamic biomarkers as primary, secondary or exploratory endpoints.
Who is eligible to participate in this study?
Males, 6 years of age and above, with a diagnosis of Becker muscular dystrophy are eligible to participate.
What do I have to do if I decide to participate in this study?
Participation in this study requires:
- Remote (over the phone) informed consent.
- Once consent is given by the participant (signed document returned to the study coordinator) the participant will be asked to complete a series of patient-reported outcome assessments in an online survey collection tool, via email or hard-copy mail.
- Blood and urine collection will be scheduled with the participant at their home or other convenient location determined by the participant.
Where does this study take place?
Participants will not be asked to visit the research study site, which means they will participate in all study procedures from where they live. The research analysis will be carried out at Binghamton University's School of Pharmacy and Pharmaceutical Sciences in Binghamton, N.Y.
Who is sponsoring this project?
Binghamton University – State University of New York
Will I get paid for participating in this study?
Yes, participants will be compensated $100 for their participation.
Why should I consider participating in this study?
While there is no direct benefit to the participant for their engagement in this study, the findings from this study will contribute to a better understanding of Becker muscular dystrophy and the development of potential treatment options.
Whom should I contact for additional information or if I am interested in participating?
You may contact clinical coordinator Marissa Barbieri at firstname.lastname@example.org or 607-777-5970.