Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)
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|ClinicalTrials.gov Identifier: NCT04944940|
Recruitment Status : Recruiting
First Posted : June 30, 2021
Last Update Posted : July 7, 2022
SBMA is an inherited chronic disease. It affects males in mid to late adulthood. It causes slowly progressive weakness of muscles and hand tremors. Researchers want to learn more about the effects of SBMA.
To identify measurements that change over time in SBMA, including tests of muscle strength and function, as well as measurements of muscle and fat size.
Men over the age of 18 both with and without a history of SBMA.
Participants will have a medical history, physical exam, and blood and urine tests. They will have neuromuscular ultrasound. They will have a lumbar puncture to obtain spinal fluid. For this, a needle will be inserted into the spinal canal in the lower back.
Participants will have muscle strength and function tests. These tests may include pushing, pulling, rising from a chair and sitting back down, and/or walking. During these tests, they may wear an accelerometer (activity tracker) on their wrist.
Participants will get an activity tracker to wear on their wrist for 10 days at home every 3 months.
Participants with SBMA will also have lower limb magnetic resonance imaging (MRI) and optional whole-body MRI. They will have lung function tests. They will have speech and swallow tests. They will complete questionnaires. They may have optional body scans to measure bone density and lean body mass. They may have optional muscle biopsies. For biopsies, a needle will be used to take a small piece of muscle from the leg.
Participants with SBMA will have 5 study visits over 2 years (every 6 months). Participants without SBMA will have 1 study visit.
|Condition or disease|
|Spinal and Bulbar Muscular Atrophy Kennedys Disease Motor Neuron Disease|
|Study Type :||Observational|
|Estimated Enrollment :||70 participants|
|Official Title:||An Observational Study to Assess Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)|
|Actual Study Start Date :||October 25, 2021|
|Estimated Primary Completion Date :||May 31, 2026|
|Estimated Study Completion Date :||October 31, 2026|
Healthy male participants who are age and gender matched to the SBMA participants
Patients with Spinal and bulbar muscular atrophy (SBMA)
Male participants with genetically confirmed SBMA
- Disease progression as measured by clinical and molecular tests [ Time Frame: Baseline to visits every 6 months to 2 years ]Clinical measurements include MRI, DEXA, physical function, swallow, and pulmonary testing. Molecular measurements include serum and plasma biomarkers, muscle analysis, and urine testing.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04944940
|Contact: Angela Kokkinis, R.N.||(301) email@example.com|
|Contact: Christopher Grunseich, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Christopher Grunseich, M.D.||National Institute of Neurological Disorders and Stroke (NINDS)|