Trial record 1 of 1 for:    13-N-0188
Previous Study | Return to List | Next Study

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

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Collaborator:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )
ClinicalTrials.gov Identifier:
NCT01925196
First received: August 15, 2013
Last updated: June 25, 2014
Last verified: May 2014

August 15, 2013
June 25, 2014
August 2013
September 2018   (final data collection date for primary outcome measure)
  • ALS Functional Rating Scale-revised [ Time Frame: 6 months ] [ Designated as safety issue: No ]
  • Frontobehavioral Index [ Time Frame: 6 months ] [ Designated as safety issue: No ]
  • Verbal Fluency Score [ Time Frame: 6 months ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT01925196 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Natural History and Biomarkers of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Caused by the C9ORF72 Gene Mutation
Natural History and Biomarkers of C9ORF72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

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.

Objective:

The primary objective of this study is to characterize the natural history of disease in patients who carry a repeat expansion in the C9ORF72 gene, which causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The secondary objective is to assess whether candidate biomarkers correlate with disease progression.

Study population:

62 persons with a documented repeat expansion in C9ORF72 gene who have ALS, ALS-FTD, or FTD or who are carriers of the gene mutation and have a symptomatic family member.

Design:

Participants will undergo a structured battery of clinical and neuropsychological tests at enrollment and at three follow-up visits to NIH to assess disease severity. During these visits, physiological, imaging, blood, and CSF for testing of candidate biomarkers will be obtained. Between visits to NIH, assessments of functional status and cognition will be carried out by phone. Participants may be seen earlier than the scheduled visit if phone assessments indicate clinical deterioration.

Outcome measures:

There will be three primary outcome measures, for changes in three areas of function over the first six months. The primary measure of the severity of motor clinical function will be the ALS Functional rating scale-revised (ALSFRS-R). The primary measure of the severity of cognitive function will be changes in verbal fluency score. The primary measure of the severity of behavioral dysfunction will be the caregiver assessment of the fronto-behavioral index (FBI). Secondary clinical outcomes will be the forced vital capacity (FVC) and survival. The correlation between primary and secondary clinical outcome measures and candidate biomarkers measures will be analyzed in an exploratory fashion to determine whether candidate biomarkers are predictive of disease onset or progression.

Observational
Time Perspective: Prospective
Not Provided
Not Provided
Not Provided
Not Provided
Amyotrophic Lateral Sclerosis
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
62
September 2018
September 2018   (final data collection date for primary outcome measure)
  • 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 return for 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.

Both
18 Years and older
No
Contact: Carol H Hoffman (301) 496-7428 carol.hoffman@nih.gov
Contact: Mary Kay Floeter, M.D. (301) 496-7428 floeterm@ninds.nih.gov
United States
 
NCT01925196
130188, 13-N-0188
Not Provided
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )
National Institute of Neurological Disorders and Stroke (NINDS)
National Institute on Aging (NIA)
Principal Investigator: Mary Kay Floeter, M.D. National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health Clinical Center (CC)
May 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP