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

Recruiting now

Conditions studied: Spinal and Bulbar Muscular Atrophy, Kennedys Disease, Motor Neuron Disease

In brief

Background: 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. Objective: 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. Eligibility: Men over the age of 18 both with and without a history of SBMA. Design: 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.

Key facts

Study ID

NCT04944940

Run by

National Institute of Neurological Disorders and Stroke (NINDS)

People needed

70

Starts

2021-10-25

Expected to finish

2027-02-28

Last updated by the study team

2026-03-11

Who can join

Age: 18 and older, up to 120. Sex: male. Healthy volunteers: accepted.

You may not qualify if…

• SBMA is a disease that affects males and manifests in adulthood. Thus, woman and children are not included in this study. This study will not include individuals who lack consent capacity.
• An SBMA patient who meets any of the following criteria will be excluded from participation in this study:
• Contraindications to MRI such as a contraindicated non-removable metal device (i.e., pacemaker, defibrillator, insulin pump, metal clips, non-removable jewelry) or claustrophobia.
• Non ambulatory
• Use of androgen reducing agents within the past two years
• Note: An SBMA patient who meets any of the following criteria will be excluded from the lumbar puncture procedure:
• PT/PTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)
• INR greater than or equal to 1.5, thrombocytopenia (<70,000), or abnormal bleeding time or platelet dysfunction
• History of a bleeding disorder
• Use of anticoagulants
• Note: An SBMA patient who meets any of the following criteria will be excluded from the muscle biopsy procedure:
• Advanced wasting of tibialis anterior that precludes needle muscle biopsy (in order to ensure that a sample taken would be of muscle and not just fat and fascia)
• Use of aspirin or non-steroidal anti-inflammatory agents 3 days prior to the procedure
• Note: An SBMA patient who meets any of the following criteria will be excluded from the whole body MRI:
• Patient has a history of prior treatment with androgen reducing agents including LHRH agonists or antagonists, androgen receptor antagonists and selective androgen receptor modifiers.
• Patient is unable to complete the study assessments of QMT or timed walk tests.
• Patient anticipates making major lifestyle changes during the observation period relating to diet and exercise.
• A Healthy Control participant who meets any of the following criteria will be excluded from the study:
• PT/PTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)
• INR greater than or equal to 1.5, thrombocytopenia (<70,000), or abnormal bleeding time or platelet dysfunction
• History of a bleeding disorder
• Use of anticoagulants

Where it is running

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)

Full record on ClinicalTrials.gov

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