Urinary Titin Biomarker in Duchenne Muscular Dystrophy (DMD)
Contact
Description
New treatments for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are being developed every year. To see if these new treatments work, we need better ways to track how the disease is progressing. This study is testing a new, non-invasive urine test called NTFT (N-terminal fragment of titin) to help measure how fast the muscle disease is getting worse. We also hope this test will help us figure out what types of physical activities are most helpful for people with muscular dystrophy.
The goal of the study is to see if the NTFT urine test can be used in future clinical trials to test new treatments for DMD and BMD. We will also measure another protein in the urine called (soluble Suppression of Tumorigenesis-2) sST2, which can give us information about heart health and any possible damage to the heart muscles. If participants agree, a small amount of blood will be taken during a routine blood draw to measure sST2 levels in the blood, which also helps us understand heart health.
Eligibility and criteria
What to expect
The study consists of 3 on-site visits during the study period, with 1 week of home urine collection (up to 3 times per day for 7 days) after the visits. The 3 visits will be conducted at the same time as the participant's clinical visits. Urine will be collected at the beginning and end of each clinical visit. In addition, the study includes review of performance during standard neuromuscular tests that will be completed during clinical visits, such as the North Star Ambulatory Assessment and Timed Function tests. Activity monitors will be worn during this routine testing. Other relevant medical information, including cardiac imaging and pulmonary function testing, will be reviewed. Optionally, if a clinically-requested blood draw is to be performed, an additional blood sample may be collected for additional biomarker evaluation. After the onsite visits, the participant will wear the activity monitors over the course of 7 days, and collect up to 3 urine samples each day (morning, afternoon, evening).
Visit 1: Screening and baseline.
- Neuromuscular assessment, urine sample collection, wearing activity monitoring device, activity log, Blood Draw (Optional, if Clinically Scheduled)
- 2 hours on site (during clinic visit) + 1 week at home
Visit 2 : Year 1 Follow-up visit (~6-12 months after previous visit)
- Neuromuscular assessment, urine sample collection, wearing activity monitoring device, activity log, Blood Draw (Optional, if Clinically Scheduled)
- 2 hours on site (during clinic visit) + 1 week at home
Visit 3 : Year 2 & End of study (~6-12 months after previous visit)
- Neuromuscular assessment, urine sample collection, wearing activity monitoring device, activity log, Blood Draw (Optional, if Clinically Scheduled)
- 2 hours on site (during clinic visit) + 1 week at home
Related specialties
Related conditions
We need families like you
Your time and participation make a difference in supporting the work of the Research Institute and children in our community. Learn more about opportunities to participate in our research.