Ignite Creation Date:
2024-05-06 @ 1:53 AM
Last Modification Date:
2024-10-26 @ 11:11 AM
Study NCT ID:
NCT01925196
Status:
COMPLETED
Last Update Posted:
2024-07-12
First Post:
2013-08-15
Brief Title:
Natural History and Biomarkers of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Caused by the C9ORF72 Gene Mutation
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Natural History and Biomarkers of C9ORF72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Status:
COMPLETED
Status Verified Date:
2024-04-23
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
- 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
- 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
Detailed Description:
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 follow-up visit or at home 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
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 follow-up visit or at home 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
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 |
|---|---|---|---|
| 13-N-0188 | None | None | None |