Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)
- Conditions
- Spinal and Bulbar Muscular AtrophyKennedys DiseaseMotor Neuron Disease
- Registration Number
- NCT04944940
- 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.
- 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
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- Male
- Target Recruitment
- 70
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Disease progression as measured by clinical and molecular tests 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.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
National Institutes of Health Clinical Center
🇺🇸Bethesda, Maryland, United States