Natural History and Biomarkers of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Caused by the C9ORF72 Gene Mutation

Natural History and Biomarkers of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Caused by the C9ORF72 Gene Mutation

Quick Info:

Status:
Ongoing, But Not Recruiting
Estimated Enrollment:
50
Phase:
Treatment Type:
Trial Type:
Sponsor:
National Institute of Neurological Disorders and Stroke (NINDS)
Primary Investigator:
Contact Information:

Trial Goal:

Biomarkers

Biomarkers

Signs to help diagnose and monitor ALS
Tests to Expect:
Blood Draw

Blood Draw

Spinal Tap

Spinal Tap

Cognitive Tests

Cognitive Tests

Update Notes:

1/4/2019No significant updates
12/20/2018No significant updates
10/25/2018No significant updates
9/26/2018No significant updates
8/8/2018Recruitment status updated
4/2/2018No significant updates
2/8/2018No significant updates
10/23/2017No significant updates
8/30/2017No significant updates
8/14/2017No significant updates
7/11/2017No significant updates
4/25/2017No significant updates
3/23/2017No significant updates
1/24/2017No significant updates
12/5/2016No significant updates
10/14/2016No significant changes
9/2/2016No significant updates
8/10/2016No significant updates
5/25/2016No Significant Updates
3/11/2016No significant updates.
1/13/2016No significant updates.
4/13/2015No significant updates.
3/24/2015No significant updates.
6/27/2014No significant updates.
3/18/2014No significant updates.
2/25/2014Recruitment Status Updated.
12/24/2013No significant updates.
12/3/2013No significant updates
11/20/2013Protocol Updated
8/20/2013New trial added

Locations:

National Institutes of Health Clinical Center 9000 Rockville Pike, Bethesda, 20892

Other Information:

Purpose: To understand how symptoms change over time in people with mutations in a gene called C9ORF72, which causes ALS and FTD. 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.
Eligibility: Ages 18 and older, both genders, no healthy volunteers, a documented repeat expansion in C9ORF72 gene who have ALS, ALS-FTD, or FTD or who are carriers of the C9ORF72 repeat expansion and have a family member with any of these diseases.
Details: - 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. - Blood samples will be taken. - Participants will be asked to perform several language and movement tests. - Small skin samples will be taken on one visit - Between visits, participants will answer questions about their health over the phone 3 times.
Collaborator(s):
News Articles and Summaries:
ALS Forum:
First Published on Clinicaltrials.gov: 8/15/2013
ClinicalTrials.gov ID: NCT01925196
Trial Protocol as Published on Clinicaltrials.gov:
ClinicalTrials.gov