Study of Clinical, Molecular, and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy SBMA in Adult Men

What this Trial Is About

Spinal and bulbar muscular atrophy SBMA is an inherited motor neuron disease affecting males in mid to late adulthood causing progressive muscle weakness and hand tremors. Researchers aim to identify clinical, molecular, and imaging biomarkers that reflect disease progression and severity to improve future therapeutic studies. This observational study includes men over 18 years with genetically confirmed SBMA and healthy male controls to better understand the natural course of the disease. Participants with SBMA will undergo five study visits over two years, occurring every six months. Healthy control participants will have one study visit. Procedures include medical history, physical exams, blood and urine tests, neuromuscular ultrasound, and lumbar puncture to collect spinal fluid. Those with SBMA will also have lower limb MRI scans, optional whole-body MRI, lung function tests, speech and swallow assessments, and may undergo optional body scans for bone density or muscle biopsies. During visits, muscle strength and function tests will be conducted, possibly while wearing an activity tracker on the wrist. Participants will also wear an activity tracker at home for 10 days every three months. Researchers will monitor disease progression using clinical exams, molecular tests, imaging, questionnaires, and functional tests such as the 6-minute walk test. Safety and disease markers will be assessed regularly to better understand SBMAs impact over time.

Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)