💬In plain words
What the trial is, and whether it could suit you
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
Sign in to get the eligibility rules as simple questions to take to your doctor.
📋 Eligibility rules (as published)
* INCLUSION CRITERIA:
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
* 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
* 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 (\<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
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