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Protocol Details

Natural History and Biomarkers of C9ORF72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

13-N-0188

Sponsoring Institute

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: No longer recruiting/follow-up only
Gender: Male & Female
Min Age: 18
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

Children

Special Instructions

Currently Not Provided

Keywords

Motor Neuron Disease;
Frontotemporal Dementia;
Cognitive Testing;
Magnetic Resonance Imaging (MRI);
Transcranial Magnetic Stimulation (TMS)

Recruitment Keyword(s)

None

Condition(s)

Amyotrophic Lateral Sclerosis;
Frontotemporal Lobar Degeneration

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Neurological Disorders and StrokeNational Institute on Aging

Background:

- Some people have a mutation in the C9ORF72 gene that causes amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). The mutation causes a small piece of DNA to repeat itself thousands of times. The C9ORF gene mutation mostly occurs in families. In those families, some persons have ALS and others have FTD. Occasionally the C9ORF gene mutation occurs in persons without a family history. Researchers want to understand how this gene causes different diseases. They will study how symptoms caused by the C9ORF gene develop and change over time. They will measure symptoms that occur in ALS and in FTD. In particular, they will measure strength, ability to move, thinking, and memory. They will also see if other tests are associated with progression of disease. These tests, called biomarkers, may help detect or measure C9ORF72 disease in the future.

Objectives:

- To understand how symptoms change over time in people with mutations in a gene called C9ORF72, which causes ALS and FTD.

Eligibility:

- Adults over age 18 who have this genetic mutation

Design:

- Participants will have up to 4 in-person visits and 3 telephone interviews over 3 years. Each in-person visit may take place over several days. They may be either inpatient or outpatient visits.

- At each visit, participants will undergo a series of brain, language, and behavior tests. These will include:

- Magnetic resonance imaging (MRI) of the brain. This uses magnets, radio waves, and computers to produce detailed pictures of the brain.

- Collecting spinal fluid. The clinician will make the participant s back numb and then insert a needle to collect fluid.

<TAB>- Blood samples will be taken.

<TAB>- Participants will be asked to perform several language and movement tests.

<TAB>- Small skin samples will be taken on one visit

- Between visits, participants will answer questions about their health over the phone 3 times.

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Eligibility

INCLUSION CRITERIA:

Patients will be included if they:

-Are age 18 or older

-Have a confirmed repeat expansion in the C9ORF72 gene

EXCLUSION CRITERIA:

Patients will be excluded if they

-have other major neurological or medical diseases that may cause progressive weakness or cognitive dysfunction, such as structural brain or spinal cord disease, metabolic diseases, paraneoplastic syndromes, hereditary diseases, infectious diseases, peripheral neuropathy or radiculopathy or other significant neurological abnormalities.

-require daytime ventilator support at the time of study entry

-are unable to travel to NIH at the time of study entry

-are unwilling to have follow-up visits

-are unable to understand or decline to sign the Informed Consent at the time of study entry. Participants can remain in the study (with DPA consent and participant assent) if they lose consent capacity.

-have pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments in the eye) that exclude magnetic resonance imaging

-have unstable medical conditions that, in the opinion of the investigators, prevent safe participation in this study.

-are participating in experimental treatment trials at the time of study entry or plan such participation within 6 months of entry.

Patients will not be excluded if they are receiving standard care medications for treatment of ALS and its symptoms, or are participating in non-treatment clinical research studies. Patients will be permitted to participate in experimental treatment trials after the 6 month follow-up visit.

Patients with pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments in the eye) will not be excluded but will not undergo magnetic resonance imaging or transcranial magnetic stimulation.


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Citations:

Lomen-Hoerth C, Anderson T, Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology. 2002 Oct 8;59(7):1077-9.

Murphy J, Henry R, Lomen-Hoerth C. Establishing subtypes of the continuum of frontal lobe impairment in amyotrophic lateral sclerosis. Arch Neurol. 2007 Mar;64(3):330-4.

Strong MJ, Yang W. The frontotemporal syndromes of ALS. Clinicopathological correlates. J Mol Neurosci. 2011 Nov;45(3):648-55. doi: 10.1007/s12031-011-9609-0. Epub 2011 Aug 2.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Mary Kay Floeter, M.D.
National Institute of Neurological Disorders and Stroke (NINDS)
BG 10 RM 1D45
10 CENTER DR
BETHESDA MD 20814
(301) 496-7428
floeterm@ninds.nih.gov

Carol H. Hoffman
National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health
Building 10
Room 1D45
10 Center Drive
Bethesda, Maryland 20892
(301) 451-1229
carol.hoffman@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:

NCT01925196

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