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Observational Study of Spinal and Bulbar Muscular Atrophy (SBMA)

This observational study aims to better understand Spinal and Bulbar Muscular Atrophy (SBMA), also known as Kennedy's Disease, which is an inherited condition causing muscle weakness and tremors in men. Researchers want to find measurements that change over time in SBMA, including tests of muscle strength and function, as well as measurements of muscle and fat size. This will help identify "biomarkers" (biological signs) that can show how the disease is progressing and could be used in future studies to test new treatments. The study is looking for men aged 18 and older, both with and without SBMA, particularly those in early to intermediate stages of the disease. The study is currently unclear on its recruitment status.

Study design
This is an observational study with a planned enrollment of 70 participants. It is not testing a specific intervention or drug.
What's involved
You would have a medical history taken, a physical exam, blood and urine tests, and a neuromuscular ultrasound. You would also have a lumbar puncture (spinal tap) and muscle strength and function tests. These visits will occur every 6 months to 2 years.
Compensation
Not stated in the trial record.
Follow-up
Disease progression will be measured from baseline to visits every 6 months to 2 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT04944940

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

Recruiting
Not specifiedAges 18+Observational
National Institute of Neurological Disorders and Stroke (NINDS)
~70 participants
Updated 2026-08-13 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Disease progression as measured by clinical and molecular tests
Measured over Baseline to visits every 6 months to 2 years

Conditions

Spinal and Bulbar Muscular Atrophy
Kennedys Disease
Motor Neuron Disease

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Spinal and Bulbar Muscular Atrophy, X-linked 1Androgen Receptor

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Christopher Grunseich, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Neurological Disorders and Stroke (NINDS)

Who to contact

Angela D Kokkinis, R.N.
[email protected]
(301) 451-8146
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Stated willingness to comply with all study procedures and availability for the duration of the study
Male, above the age of 18 years
Genetically confirmed SBMA
Ability of subject to understand and the willingness to sign a written informed consent document
Ability of subject to travel to the NIH Clinical Center.
Spinal bulbar muscular atrophy functional rating of \< 50 (and \> 35).
On initial whole body MRI, subject has evidence of muscle fat replacement such that the total volume of disease affected muscles (i.e., muscles with at least 10% muscle fat infiltration and no more than 50% muscle fat fraction) is at least:
500ml if only 1 muscle is eligible or
250ml if more than one muscle meets the criteria
Stated willingness to comply with all study procedures and availability to travel to the NIH for the duration of the study
Male, above the age of 18 years
No history of SBMA or other neuromuscular disorder
No history of facial palsy
Ability of subject to understand and the willingness to sign a written informed consent document
Ability of subject to travel to the NIH Clinical Center.

Exclusion

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
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
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
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.
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

What this trial measures

  • Disease progression as measured by clinical and molecular testsBaseline 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.