Clinical Trial: Study of Hepatic Function in Patients With Spinal and Bulbar Muscular Atrophy

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Evaluation of Hepatic Function in Patients With Spinal and Bulbar Muscular Atrophy

Brief Summary:

Background:

- 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.

Objective:

- 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.

Eligibility:

  • Adults 18 years and older who have SBMA, have motor neuron disease, or are carriers of SBMA.
  • Healthy adult volunteers.

Design:

  • 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 s

    Detailed Summary:

    Objectives:

    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.

    Study Population:

    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.

    Design:

    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.

    Outcome measures:

  • Liver MRI Spectroscopy [ Time Frame: One time point only ]
  • Liver Ultrasound [ Time Frame: One time point only ]


Original Primary Outcome: Liver fat deposition, as measured by magnetic resonance spectroscopy [ Time Frame: ongoing ]

Current Secondary Outcome: Blood testing, Livery Biopsy and Beck's Depression Inventory [ Time Frame: Serum and liver samples ]

Original Secondary Outcome:

Information By: National Institutes of Health Clinical Center (CC)

Dates:
Date Received: April 25, 2014
Date Started: April 2, 2014
Date Completion: January 1, 2019
Last Updated: April 28, 2017
Last Verified: April 27, 2017