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Protocol Details

Evaluation of Hepatic Function in Patients with Spinal and Bulbar Muscular Atrophy

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

14-N-0099

Sponsoring Institute

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 18
Max Age: NA

Referral Letter Required

No

Population Exclusion(s)

Children

Special Instructions

Currently Not Provided

Keywords

Liver;
Motor Neuron Disease

Recruitment Keyword(s)

None

Condition(s)

Liver;
Motor Neuron Disease

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Neurological Disorders and Stroke

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.

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Eligibility

INCLUSION CRITERIA:

The study population will consist of several subgroups of patients. An individual must meet one of the following subgroup inclusion criteria to participate in this study.

SBMA subgroup:

1) Male

2) Genetically confirmed SBMA

3) Able to travel to the NIH

4) Greater than 18 years old

SBMA carriers:

1) Female

2) Genetically confirmed SBMA heterozygote

3) Able to travel to the NIH

4) Greater than 18 years old

Other motor neuron disease patients:

1) Diagnosis of motor neuron disease other than SBMA (e.g.. amyotrophic lateral sclerosis (ALS), spinal muscular atrophy)

2) Able to travel to the NIH

3) Greater than 18 years old

4). Male

Healthy male control:

1) Male

2) No history or diagnosis of liver disease

3) No history of SBMA or other motor neuron disease

4) Greater than 18 years old

5) No diagnosis of diabetes or insulin resistance

6) No history of alcohol abuse within the last 1 year

7) No history of hyperlipidemia (LDL < 195) or hypertriglyceridemia (TAG < 225)

Healthy female control:

1) Female

2) No history or diagnosis of liver disease

3) No history of SBMA or other motor neuron disease

4) Greater than 18 years old

5) No diagnosis of diabetes or insulin resistance

6) No history of alcohol abuse within the last 1 year

7) No history of hyperlipidemia (LDL < 195) or hypertriglyceridemia (TAG < 225)

EXCLUSION CRITERIA:

-Diagnosed with an acquired or inherited liver disease eg., hepatitis B, hepatitis C, HIV, autoimmune hepatitis, cholestatic liver disease, Wilson s disease, iron overload disease, alpha-1 antitrypsin deficiency, hepatocellular carcinoma, (hepatic neoplasm or metastasis, etc.) or injury except for fatty liver disease.

-Contraindications to MRI such as a contraindicated non-removable metal device (i.e. pacemaker, defibrillator, insulin pump, metal clips, non-removable jewelry) or claustrophobia.

-Currently pregnant or pregnant within the past 6 months. Pregnant women are excluded from the study because of the known associated abnormalities in liver function that can occur in this population. The long term effects of MRI on the developing fetus are unknown and would present a risk with participation.

In addition to the above criteria, the patients receiving a liver biopsy will need to meet the additional exclusion criteria below:

-Coagulopathy (PT/PTT values that are prolonged >= 3 seconds from the upper limit of normal, including treatment with oral and parenteral anticoagulants), thrombocytopenia (< 70,000), abnormal bleeding time or platelet dysfunction.

-Taking anti-platelet agents for cardiovascular protection that cannot be safely stopped for the performance of the liver biopsy.

-Obesity, which is defined as a BMI>30 at the screenig visit.


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Citations:

Kennedy WR, Alter M. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. J Clin Neuromuscul Dis. 2000 Sep;2(1):3-5.

Harding AE, Thomas PK, Baraitser M, Bradbury PG, Morgan-Hughes JA, Ponsford JR. X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry. 1982 Nov;45(11):1012-9.

Olney RK, Aminoff MJ, So YT. Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy. Neurology. 1991 Jun;41(6):823-8.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Kenneth H. Fischbeck, M.D.
National Institute of Neurological Disorders and Stroke (NINDS)
BG 35 RM 2A1000
35 CONVENT DR
BETHESDA MD 20814
(301) 435-9318
kf@ninds.nih.gov

Angela Kokkinis, R.N.
National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health
Building 10
Room 5S-219
10 Center Drive
Bethesda, Maryland 20892
(301) 451-8146
akokkinis@mail.cc.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT02124057

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