NCT04944940

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

Recruiting now Last updated 11 March 2026

What this trial tests

trial in Spinal and Bulbar Muscular Atrophy in 70 participants. Currently enrolling.

Timeline

25 October 2021

Primary endpoint
30 December 2026

28 February 2027

Quick facts

Lead sponsor	National Institute of Neurological Disorders and Stroke (NINDS)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	70
Start date	25 October 2021
Primary completion	30 December 2026
Estimated completion	28 February 2027
Sites	1 location across United States

Conditions studied

• Spinal and Bulbar Muscular Atrophy — all drugs for Spinal and Bulbar Muscular Atrophy →
• Kennedys Disease — all drugs for Kennedys Disease →
• Motor Neuron Disease — all drugs for Motor Neuron Disease →

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Who can join

Adults 18 to 120, male only, with Spinal and Bulbar Muscular Atrophy or Kennedys Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

5 peer-reviewed publications reference this trial (live from Europe PMC):

1. Protein biomarker signature in patients with spinal and bulbar muscular atrophy.
   Tebbenkamp AT, Huggett SB, Lombardi V, Zampedri L, et al · · 2024 · cited 6× · PMID 38973610 · DOI 10.1172/jci.insight.176383
2. Therapeutic targeting of the polyglutamine androgen receptor in Spinal and Bulbar Muscular Atrophy.
   Sangotra A, Lieberman AP. · · 2025 · cited 3× · PMID 39915972 · DOI 10.1080/14728222.2025.2464173
3. Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA Dataset.
   Huggett SB, Tebbenkamp ATN, Rinaldi C, Jayaseelan D, et al · · 2024 · cited 1× · PMID 39591556 · DOI 10.1212/wnl.0000000000210088
4. Using wearable sensors during the timed up and go and 6-minute walk test in Spinal Bulbar Muscular Atrophy.
   Doreswamy K, Roberts H, Kokkinis A, Joe G, et al · · 2026 · PMID 42127017 · DOI 10.1371/journal.pdig.0001416
5. CSF and blood neuronal injury biomarkers in spinal bulbar muscular atrophy and amyotrophic lateral sclerosis 4.
   Shahim P, AlQahtani A, Kokkinis AD, Kazmi N, et al · · 2025 · PMID 40740433 · DOI 10.1093/braincomms/fcaf275