An observational study in Spinal and Bulbar Muscular Atrophy, Kennedys Disease and Motor Neuron Disease, sponsored by National Institute of Neurological Disorders and Stroke (NINDS). Recruiting at 1 site in United States. Open to male participants aged 18 Years to 120 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-08-13.
Sponsored by National Institute of Neurological Disorders and Stroke (NINDS) · Observational
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Among 29 studies in Bulbo-Spinal Atrophy, X-Linked with a site in United States — 6 open to participants now, 10 under way, 3 of them phase 3. Bulbo-Spinal Atrophy, X-Linked · United States.
Among the 29 studies in Bulbo-Spinal Atrophy, X-Linked with a site in United States, this one is one of 5 that started in 2021, is one of 7 observational ones, and was the 18th registered.
57 studies on the registry are indexed under Bulbo-Spinal Atrophy, X-Linked; 12 are open to participants now.
Browse Bulbo-Spinal Atrophy, X-Linked studies →6 of the 29 studies in Bulbo-Spinal Atrophy, X-Linked with a site in United States are open now. Recruiting first, the newest first:
ORIC Pharmaceuticals · Sites in United States, Puerto Rico
Ages 18+ · Men only
Novartis Pharmaceuticals · Sites in United States, Australia, Brazil and 11 more countries
Ages 18+ · Men only
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Sites in United States
Ages 8–99 · Healthy volunteers
Massachusetts General Hospital · Sites in United States, Israel, Italy
Ages 18–90
Sanford Health · Sites in United States
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 12 Bulbo-Spinal Atrophy, X-Linked studies recruiting now, 5 (42%) set no upper age limit and 2 (17%) stop at 75 or younger; 3 take children under 18; 2 take healthy volunteers.
This study: 18 Years to 120 Years · male · healthy volunteers too.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
29 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 10 · Phase 2 12 · Phase 3 6
First in 2006; this study’s year is marked. 5 started in 2021.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 70 is below the median of 150 across 13 observational studies indexed under Bulbo-Spinal Atrophy, X-Linked.
Median enrollment 48 across the 22 interventional studies, 71 across the 7 observational. Of the 16 that completed or were terminated, 10 (63%) have results posted.
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13 of 29 have an industry lead sponsor. The 10 most frequent:
National Institute of Neurological Disorders and Stroke (NINDS) is the lead sponsor of 601 studies on the registry; 56 are open to participants now.
Of its 18 completed or terminated interventional studies of FDA-regulated products, 8 (44%) have results posted.
National Institute of Neurological Disorders and Stroke (NINDS) has 4 studies filed under Bulbo-Spinal Atrophy, X-Linked — fewer than ten, so there is no comparison to draw.
2 of the studies in Bulbo-Spinal Atrophy, X-Linked with a site in United States that are under way reach primary completion within a year, 1 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT06764485Phase 3CelgeneA Study to Compare the Efficacy and Safety of BMS-986365 Versus the Investigator's Choice of Therapy in Participants With Metastatic Castration-resistant Prostate Cancer | 2027-09-12 |
| NCT04944940National Institute of Neurological Disorders and Stroke (NINDS)Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA) | 2026-12-30 |
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Among the 29 studies in Bulbo-Spinal Atrophy, X-Linked with a site in United States, from their registry updates:
This tab as a report to print or save as PDF → With an account.
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.
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
Primary Clinical with a confirmatory genetic testing result that is consistent with a diagnosis of spinal and bulbar muscular atrophy.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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:
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:
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:
In order to be eligible to participate in this study in the Healthy Control cohort, an individual must meet all of the following criteria:
EXCLUSION CRITERIA:
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:
Note: An SBMA patient who meets any of the following criteria will be excluded from the lumbar puncture procedure:
Note: An SBMA patient who meets any of the following criteria will be excluded from the muscle procedure:
Note: An SBMA patient who meets any of the following criteria will be excluded from the whole body MRI:
A Healthy Control participant who meets any of the following criteria will be excluded from the study:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.
Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
INR, PT and aPTT (clotting tests)
Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.
Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
ULN (upper limit of normal)
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Platelets
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Healthy male participants who are age and sex matched to the SBMA participants
Male participants with genetically confirmed SBMA
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.
Time frame: Baseline to visits every 6 months to 2 years
Plan to share: No
Started Oct 2021 (actual). Primary completion is estimated for Dec 2026, 62 months after the start.
How these figures are worked out, and which studies are left out of them.
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Bulbo-Spinal Atrophy, X-Linked →
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