Ignite Creation Date:
2024-05-06 @ 2:46 AM
Last Modification Date:
2024-10-26 @ 11:23 AM
Study NCT ID:
NCT02124057
Status:
COMPLETED
Last Update Posted:
2022-08-18
First Post:
2014-04-25
Brief Title:
Study of Hepatic Function in Patients With Spinal and Bulbar Muscular Atrophy
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Evaluation of Hepatic Function in Patients With Spinal and Bulbar Muscular Atrophy
Status:
COMPLETED
Status Verified Date:
2022-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 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
- 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 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
Detailed Description:
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 As of September 2017 recruitment is complete for men with genetically confirmed SBMA n15 recruited age-matched healthy control men n15 recruited SBMA carrier women n14 recruited and 15 age-matched healthy control women n14 recruited Recruitment of motor neuron disease subjects as disease controls for the study began in April 2018 and is ongoing Our goal is to recruit 12 more disease control subjects
Design
Subjects will complete liver evaluations at the NIH that may include blood work liver MRI imaging with spectroscopy MRS ultrasound and biopsy Liver biopsy will be performed on a subset of subjects with SBMA only 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
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 in SBMA patients 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
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 As of September 2017 recruitment is complete for men with genetically confirmed SBMA n15 recruited age-matched healthy control men n15 recruited SBMA carrier women n14 recruited and 15 age-matched healthy control women n14 recruited Recruitment of motor neuron disease subjects as disease controls for the study began in April 2018 and is ongoing Our goal is to recruit 12 more disease control subjects
Design
Subjects will complete liver evaluations at the NIH that may include blood work liver MRI imaging with spectroscopy MRS ultrasound and biopsy Liver biopsy will be performed on a subset of subjects with SBMA only 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
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 in SBMA patients 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 14-N-0099 | None | None | None |