Study of Hepatic Function in Patients With Spinal and Bulbar Muscular Atrophy
- Spinal and bulbar muscular atrophy (SBMA) is an inherited disease. It causes weakness in muscles used for swallowing, breathing, and speaking. SBMA mainly affects men, but women can carry the gene for it. Researchers think there may be a link between SBMA and excess fat in the liver.
- To look for fatty liver and liver injury in people with SBMA, people with motor neuron disease, and people who carry the gene for SBMA.
- Adults 18 years and older who have SBMA, have motor neuron disease, or are carriers of SBMA.
- Healthy adult volunteers.
- Participants will be screened with medical history, physical exam, and blood tests.
- Participants will have 1 outpatient visit of 1-2 days. Women will have a urine pregnancy test. All participants will have:
- Blood tests.
- Liver ultrasound. A probe is placed on the abdomen at certain locations and angles and takes pictures. The painless procedure takes 20-30 minutes.
- Liver magnetic resonance imaging (MRI) scan. The MRI scanner is a metal cylinder with a magnetic field. Participants will lie on a table that slides in and out of it. They will be in the scanner for about 30 minutes. They will get earplugs for loud noises.
- Some participants with abnormal liver testing will have a biopsy (small piece) of the liver taken. The biopsy site will be located with ultrasound, then cleaned and numbed. The physician will quickly pass a needle in and out of the liver while the participants holds their breath. Afterward, participants will be monitored in bed for 6 hours.
- Participants may return for follow-up and another 1-2 day outpatient visit yearly for up to 2 years.
Motor Neuron Disease
|Study Design:||Time Perspective: Prospective|
|Official Title:||Evaluation of Hepatic Function in Patients With Spinal and Bulbar Muscular Atrophy|
- Liver fat deposition, as measured by magnetic resonance spectroscopy [ Time Frame: ongoing ] [ Designated as safety issue: No ]
|Study Start Date:||April 2014|
|Estimated Study Completion Date:||December 2015|
|Estimated Primary Completion Date:||December 2015 (Final data collection date for primary outcome measure)|
Spinal and bulbar muscular atrophy (SBMA), or Kennedy s disease, is a slowly progressive hereditary motor neuron disease for which there is currently no effective treatment. Whether the liver is affected in SBMA is unclear. Preliminary analysis in SBMA patients has shown changes including increased hepatic fat, which requires additional investigation. Female carriers and patients with motor neuron disease will also participate in the study to evaluate for liver fat and function via imaging and laboratory tests.
We plan to enroll 15 men with genetically confirmed SBMA, 15 age-matched healthy control men, 15 SBMA carrier women, 15 age-matched healthy control women and 15 males with other motor neuron disease patients as disease controls.
Subjects will complete liver evaluations at the NIH that may include blood work, liver MRI imaging with spectroscopy (MRS), ultrasound, and biopsy. Liver biopsies will be done on up to 20 subjects with evidence of fatty liver by MRS: up to 10 subjects with SBMA, 5 female carriers, and 5 patients with other forms of motor neuron disease. Liver biopsy will be performed on a subset of subjects who have a clinical indication for biopsy analysis. Liver tissue will be analyzed by the NIH Clinical Center Pathology Department, and additional studies will be done in the research laboratory at NIH. Patients may undergo repeated non-invasive testing to determine if the liver findings are changing over time. An evaluation of muscle fat by MRI spectroscopy will be done with a subset of up to 10 subjects receiving the liver studies.
Subjects will be assessed using several different types of measurements including blood work for fatty metabolism, muscle function, and hepatic function. Liver biopsies will be used to determine the pattern and degree of fatty infiltration. Liver and muscle imaging will be used to detect fat. Ultrasound elastography will be used to assess the extent of fibrosis and loss of elasticity in the liver.
Please refer to this study by its ClinicalTrials.gov identifier: NCT02124057
|Contact: Angela Kokkinis, R.N.||(301) email@example.com|
|Contact: Kenneth H Fischbeck, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Kenneth H Fischbeck, M.D.||National Institute of Neurological Disorders and Stroke (NINDS)|