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Trial record 2 of 129 for:    SBMA

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

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ClinicalTrials.gov Identifier: NCT04944940
Recruitment Status : Recruiting
First Posted : June 30, 2021
Last Update Posted : September 17, 2021
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )

Brief 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.

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.


Condition or disease
Spinal and Bulbar Muscular Atrophy Kennedys Disease Motor Neuron Disease

Show Show detailed description

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Study Type : Observational
Estimated Enrollment : 70 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: An Observational Study to Assess Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)
Estimated Study Start Date : September 22, 2021
Estimated Primary Completion Date : December 30, 2024
Estimated Study Completion Date : December 31, 2024


Group/Cohort
Healthy Volunteers
Healthy male participants who are age and gender matched to the SBMA participants
Patients with Spinal and bulbar muscular atrophy (SBMA)
Male participants with genetically confirmed SBMA



Primary Outcome Measures :
  1. 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.



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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Primary Clinical with a confirmatory genetic testing result that is consistent with a diagnosis of spinal and bulbar muscular atrophy.
Criteria
  • INCLUSION CRITERIA:

Some restrictions are placed on participation in the study because we aim to identify disease biomarkers specific to those with early t 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
  • 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.

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:

  • 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
  • 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
  • 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 (less than 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 (less than 70,000), or abnormal bleeding time or platelet dysfunction
  • History of a bleeding disorder
  • Use of anticoagulants

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04944940


Contacts
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Contact: Angela Kokkinis, R.N. (301) 451-8146 akokkinis@mail.cc.nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
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Principal Investigator: Christopher Grunseich, M.D. National Institute of Neurological Disorders and Stroke (NINDS)
Additional Information:
Publications:
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Responsible Party: National Institute of Neurological Disorders and Stroke (NINDS)
ClinicalTrials.gov Identifier: NCT04944940    
Other Study ID Numbers: 10000428
000428-N
First Posted: June 30, 2021    Key Record Dates
Last Update Posted: September 17, 2021
Last Verified: August 19, 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ):
Motor Neuron Disease
Spinal and Bulbar Muscular Atrophy
Kennedys disease
Androgen Receptor
Natural History Study
Additional relevant MeSH terms:
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Muscular Atrophy
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Bulbo-Spinal Atrophy, X-Linked
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Neurodegenerative Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases
Muscular Atrophy, Spinal
Heredodegenerative Disorders, Nervous System
Genetic Diseases, X-Linked
Genetic Diseases, Inborn