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

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