Clinical features of spinal and bulbar muscular atrophy.
Lindsay E Rhodes, Brandi K Freeman, Sungyoung Auh...
https://pubmed.ncbi.nlm.nih.gov/19846582Actively Recruiting
Age: 18Years - 120Years
MALE
Healthy Volunteers
ID04944940
An Observational Study to Assess Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)
Led by National Institute of Neurological Disorders and Stroke (NINDS) · Updated on 2026-03-11
70
Participants Needed
1
Research Sites
8 weeks
Total Duration
On this page
AI-Summary
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 SBMA's impact over time.
CONDITIONS
Brief Title
Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)
Who Can Participate
Age: 18Years - 120Years
MALE
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Male participants above the age of 18 years
- Willingness to comply with all study procedures and available for the study duration
- Ability to understand and sign informed consent
- Ability to travel to the NIH Clinical Center
- For SBMA group: genetically confirmed SBMA
- For healthy controls: no history of SBMA, neuromuscular disorders, or facial palsy
You will not qualify if you...
- Female participants and children
- Individuals lacking consent capacity
- SBMA patients with contraindications to MRI such as non-removable metal devices or claustrophobia
- Non-ambulatory SBMA patients
- Use of androgen reducing agents within the past two years
- SBMA patients with blood clotting disorders or on anticoagulants (including prolonged PT/PTT, INR ≥1.5, thrombocytopenia, abnormal bleeding or platelet function)
- SBMA patients with advanced muscle wasting that prevents biopsy or recent use of aspirin or NSAIDs before biopsy
- SBMA patients unable to complete strength or walk tests or planning major lifestyle changes during the study
- Healthy controls with blood clotting disorders or on anticoagulants as above
- SBMA patients excluded from lumbar puncture or muscle biopsy based on specific blood or health criteria
- SBMA patients excluded from whole body MRI if previously treated with androgen reducing agents or unable to complete assessments or lifestyle changes anticipated during study period
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Baseline and every 6 months to 2 years
Participants undergo clinical, molecular, and imaging assessments to establish baseline status and characterize the disease.
Visits every 6 months to 2 years for assessments
Long-term Monitoring
Duration - Up to several years depending on study duration
Participants are observed over time to track progression of spinal and bulbar muscular atrophy using biomarkers and clinical tests.
Follow-up visits every 6 months to 2 years
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
A
Angela D Kokkinis, R.N.
C
Christopher Grunseich, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients.
Naoki Atsuta, Hirohisa Watanabe, Mizuki Ito...
https://pubmed.ncbi.nlm.nih.gov/16621916