Spinal and Bulbar Muscular AtrophyNCT04944940
Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)
An observational study of Spinal and Bulbar Muscular Atrophy and Kennedys Disease, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 to 120 years, men onlyHealthy volunteers can take part
- Conditions the study is for
- Spinal and Bulbar Muscular Atrophy, Kennedys Disease, Motor Neuron Disease
- How many people
- 70 participants
- Where
- 1 siteUnited States
- Study dates
- 25 Oct 2021to 28 Feb 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 120 years
- Men only
- Healthy volunteers accepted
- Adult, Older adult
Study population: Primary Clinical with a confirmatory genetic testing result that is consistent with a diagnosis of spinal and bulbar muscular atrophy.
Who may be able to join
- Some restrictions are placed on participation in the study because we aim to identify disease biomarkers specific to those with early to intermediate stages of disease who would be potential candidates for future therapeutic studies.
- In order to be eligible to participate in the SBMA cohort, an individual must meet all of the following criteria:
- 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
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- Ability of subject to travel to the NIH Clinical Center.
- Note: an SBMA patient who meets both of the additional following criteria will be offered an optional whole body MRI at subsequent follow-up visits:
- 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
- In order to be eligible to participate in this study in the Healthy Control cohort, an individual must meet all of the following 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.
Who cannot join
- 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:
Show all 22Show fewer
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY8664111010, prpl@cc.nih.gov
About this study
Official title: An Observational Study to Assess Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)
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.
Read more
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.
Read the detailed description
Study Description:
Spinal and bulbar muscular atrophy (SBMA) is an inherited form of motor neuron disease caused by a CAG-repeat expansion in the androgen receptor gene on the X chromosome for which there is no treatment currently. Biomarkers will be collected from participants with SBMA during this study to understand the natural history and progression of the disease.
Objectives:
The main objective of this study is to develop clinical, molecular and imaging outcome parameters that correlate with disease progression and severity and that predict clinical decline. These biomarkers and outcome measures can serve as potential tools for the evaluation of efficacy in future therapeutic studies in SBMA.
Endpoints:
The studies performed under this protocol are exploratory. However, the following measures may be used to characterize baseline status and disease progression over the course of the study:
Muscle strength by manual and quantitative myometry
Distance traveled in meters on the 6-minute walk test
Activity levels and parameters of gait as measured by accelerometers
Global disability measured by the SBMAFRS questionnaire and other tools/instruments
Fatigue as measured by the Fatigue Severity Scale
Breathing function measured by pulmonary function test
Swallow and speech function measured by questionnaires, tongue muscle strength, digital audio recordings for analysis of voice and speech, and barium swallow
Skeletal muscle MRI measurement of muscle volume and fat fraction
Whole body MRI measurement of body muscle fat fraction, muscle fat infiltration, and liver.
Skeletal muscle ultrasound measurement of muscle thickness, echogenicity and elasticity
Nerve ultrasound measurement of nerve cross sectional area and anterior posterior diameter
Laboratory studies from blood, serum, urine, stool, and CSF
Muscle biopsy assessment of androgen receptor levels and function
- Keywords
- Motor Neuron Disease, Spinal and Bulbar Muscular Atrophy, Kennedys disease, Androgen Receptor, Natural History Study, Natural History
- Medical subject headings
- Bulbo-Spinal Atrophy, X-Linked, Motor Neuron Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Healthy Volunteers | Healthy male participants who are age and sex matched to the SBMA participants | |
| Patients with Spinal and bulbar muscular atrophy (SBMA) | Male participants with genetically confirmed SBMA |
What is being measured
The primary outcome is the main question the study is designed to answer.
Disease progression as measured by clinical and molecular tests
Clinical measurements include MRI, DEXA, physical function, swallow, and pulmonary testing. Molecular measurements include serum and plasma biomarkers, muscle analysis, and urine testing.
Measured: Baseline to visits every 6 months to 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jun 2021
- Study start25 Oct 2021
- Primary completion30 Dec 2026 (estimated)
- Study completion28 Feb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Spinal and Bulbar Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by National Institute of Neurological Disorders and Stroke (NINDS)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 70 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Christopher Grunseich, M.D., Principal investigator, National Institute of Neurological Disorders and Stroke (NINDS)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04944940
- Sponsor's protocol ID
- 10000428
- Other IDs
- 000428-N
- Status last verified
- 11 Aug 2026
- First submitted
- 29 Jun 2021
- Last updated
- 13 Aug 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean A, Chen C, Lehky TJ, Shrader JA, Levy EW, Harris-Love M, Di Prospero NA, Fischbeck KH. Clinical features of spinal and bulbar muscular atrophy. Brain. 2009 Dec;132(Pt 12):3242-51. doi: 10.1093/brain/awp258.
PubMed 19846582Atsuta N, Watanabe H, Ito M, Banno H, Suzuki K, Katsuno M, Tanaka F, Tamakoshi A, Sobue G. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain. 2006 Jun;129(Pt 6):1446-55. doi: 10.1093/brain/awl096. Epub 2006 Apr 18.
PubMed 16621916
Study at a glance
From the registry record, last updated by the sponsor on 13 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Observational Study to Assess Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)
- ClinicalTrials.gov ID
- NCT04944940
- Acronym / sponsor ID
- 10000428
- Keywords
- Motor Neuron Disease, Spinal and Bulbar Muscular Atrophy, Kennedys disease, Androgen Receptor, Natural History Study, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 70 participants (estimated)
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- 25 Oct 2021 (actual)
- Primary completion
- 30 Dec 2026 (estimated)
- Study completion
- 28 Feb 2027 (estimated)
- First posted
- 30 Jun 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Study Description:
Spinal and bulbar muscular atrophy (SBMA) is an inherited form of motor neuron disease caused by a CAG-repeat expansion in the androgen receptor gene on the X chromosome for which there is no treatment currently. Biomarkers will be collected from participants with SBMA during this study to understand the natural history and progression of the disease.
Objectives:
The main objective of this study is to develop clinical, molecular and imaging outcome parameters that correlate with disease progression and severity and that predict clinical decline. These biomarkers and outcome measures can serve as potential tools for the evaluation of efficacy in future therapeutic studies in SBMA.
Endpoints:
The studies performed under this protocol are exploratory. However, the following measures may be used to characterize baseline status and disease progression over the course of the study:
Muscle strength by manual and quantitative myometry
Distance traveled in meters on the 6-minute walk test
Activity levels and parameters of gait as measured by accelerometers
Global disability measured by the SBMAFRS questionnaire and other tools/instruments
Fatigue as measured by the Fatigue Severity Scale
Breathing function measured by pulmonary function test
Swallow and speech function measured by questionnaires, tongue muscle strength, digital audio recordings for analysis of voice and speech, and barium swallow
Skeletal muscle MRI measurement of muscle volume and fat fraction
Whole body MRI measurement of body muscle fat fraction, muscle fat infiltration, and liver.
Skeletal muscle ultrasound measurement of muscle thickness, echogenicity and elasticity
Nerve ultrasound measurement of nerve cross sectional area and anterior posterior diameter
Laboratory studies from blood, serum, urine, stool, and CSF
Muscle biopsy assessment of androgen receptor levels and function
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Healthy Volunteers | – | –Healthy male participants who are age and sex matched to the SBMA participants |
| Patients with Spinal and bulbar muscular atrophy (SBMA) | – | –Male participants with genetically confirmed SBMA |
Who may qualify
- Ages
- 18 to 120 years
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Primary Clinical with a confirmatory genetic testing result that is consistent with a diagnosis of spinal and bulbar muscular atrophy.
Key inclusion criteria (19 listed)
- Some restrictions are placed on participation in the study because we aim to identify disease biomarkers specific to those with early to intermediate stages of disease who would be potential candidates for future therapeutic studies.
- In order to be eligible to participate in the SBMA cohort, an individual must meet all of the following criteria:
- 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
Key exclusion criteria (22 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Aug 2026.
- Background: PubMed 19846582Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean A, Chen C, Lehky TJ, Shrader JA, Levy EW, Harris-Love M, Di Prospero NA, Fischbeck KH. Clinical features of spinal and bulbar muscular atrophy. Brain. 2009 Dec;132(Pt 12):3242-51. doi: 10.1093/brain/awp258.
- Background: PubMed 16621916Atsuta N, Watanabe H, Ito M, Banno H, Suzuki K, Katsuno M, Tanaka F, Tamakoshi A, Sobue G. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain. 2006 Jun;129(Pt 6):1446-55. doi: 10.1093/brain/awl096. Epub 2006 Apr 18.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Christopher Grunseich, M.D. principal investigator
National Institute of Neurological Disorders and Stroke (NINDS)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal and Bulbar Muscular Atrophy and Kennedys Disease, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 19 inclusion and 22 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Angela D Kokkinis, R.N. ((301) 451-8146, akokkinis@mail.cc.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disease progression as measured by clinical and molecular tests (time frame: Baseline to visits every 6 months to 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04944940, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Aug 2026.