Ignite Creation Date:
2024-05-06 @ 8:12 AM
Last Modification Date:
2024-10-26 @ 11:57 AM
Study NCT ID:
NCT02686268
Status:
COMPLETED
Last Update Posted:
2021-07-08
First Post:
2016-02-11
Brief Title:
Understanding Clinical Phenotype and Collecting Biomarker Samples in C9ORF72 ALS
Sponsor:
Washington University School of Medicine
Organization:
Washington University School of Medicine
Study Overview
Official Title:
Understanding Clinical Phenotype and Collecting Biomarker Samples in C9ORF72 ALS
Status:
COMPLETED
Status Verified Date:
2021-07
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:
This research study is being performed to better understand a specific form of Amyotrophic Lateral Sclerosis ALS caused by a mutation or abnormality of the C9ORF72 gene This mutation is the most common genetic cause of ALS and is present in 40 of ALS patients with a family history of ALS and 5-10 of ALS patients without a family history of ALS
Detailed Description:
Individuals diagnosed with ALS who are confirmed to carry the Chromosome 9 Open Reading Frame 72 C9ORF72 gene mutation by CLIA-certified lab results are eligible for enrollment Researchers want to understand the natural history of C9ORF72 related ALS in terms of measures of rate of progression as well as understanding how the size of the hexanucleotide repeat expansion influences disease parameters The investigators hope that the intense study of patients with the C9ORF72 mutation will ultimately help us develop treatments for this common form of ALS
Objectives
Enroll a total of 120 C9ORF72 ALS participants with known mutation at the time of enrollment
Determine the C9ORF72 hexanucleotide repeat expansion size in all subjects
Define ALS disease course
Determine to what degree the disease course correlates with expansion size
Collect biomarker samples blood DNA and CSF
Eligibility
- Adults over age 18 with known C9ORF72 ALS status
Design
Participants will have up to 9 in-person visits this includes two Optional visits for lumbar puncture procedures and 5 telephone interviews over 3 years Each in-person visit may be tied to a regular clinic visit if subject is local except for the optional lumbar puncture visits or if the subject is from out of town one initial visit can be set up with all other visits performed via a telephone call and medical records review
At each in town visit subjects will undergo a blood draw optional lumbar puncture and two questionnaires ALS Functional Rating Scale - revised ALSFRS-R which measures motor function and the ALS-Cognitive Behavioral Screen ALS-CBS which will detect signs of Frontal Temporal Dementia and a breathing test to determine Slow Vital Capacity SVC measurements
For out of town subjects - blood draws can be scheduled locally and sent to the study site for analysis The ALSFRS-R can be performed over the phone along with other study related questions
The C9ORF72 mutation is called a dominant mutation which means that their children have a 50 chance of inheriting the gene Most people who inherit the C9ORF72 mutation will develop either ALS or the related disease called fronto-temporal dementia However it may be possible for someone to test positive for the C9ORF72 gene mutation and never develop symptoms Furthermore in addition to C9ORF72 there are many other gene mutations that can cause ALS This study will not test these other genes and therefore a negative test result for the C9ORF72 mutation will not exclude the possibility that you have a heritable form of ALS
In order to understand the natural history of C9ORF72 related ALS in terms of measures of rate of progression the investigators need to understand how the size of the hexanucleotide repeat expansion influences disease parameters A C9ORF72-focused clinical trial defining an accurate historical control population will be critical since there may not be enough subjects for a placebo controlled trial To be ready for upcoming therapeutic trials the investigators need to start the detailed characterization of the C9ORF72 patients immediately
Objectives
Enroll a total of 120 C9ORF72 ALS participants with known mutation at the time of enrollment
Determine the C9ORF72 hexanucleotide repeat expansion size in all subjects
Define ALS disease course
Determine to what degree the disease course correlates with expansion size
Collect biomarker samples blood DNA and CSF
Eligibility
- Adults over age 18 with known C9ORF72 ALS status
Design
Participants will have up to 9 in-person visits this includes two Optional visits for lumbar puncture procedures and 5 telephone interviews over 3 years Each in-person visit may be tied to a regular clinic visit if subject is local except for the optional lumbar puncture visits or if the subject is from out of town one initial visit can be set up with all other visits performed via a telephone call and medical records review
At each in town visit subjects will undergo a blood draw optional lumbar puncture and two questionnaires ALS Functional Rating Scale - revised ALSFRS-R which measures motor function and the ALS-Cognitive Behavioral Screen ALS-CBS which will detect signs of Frontal Temporal Dementia and a breathing test to determine Slow Vital Capacity SVC measurements
For out of town subjects - blood draws can be scheduled locally and sent to the study site for analysis The ALSFRS-R can be performed over the phone along with other study related questions
The C9ORF72 mutation is called a dominant mutation which means that their children have a 50 chance of inheriting the gene Most people who inherit the C9ORF72 mutation will develop either ALS or the related disease called fronto-temporal dementia However it may be possible for someone to test positive for the C9ORF72 gene mutation and never develop symptoms Furthermore in addition to C9ORF72 there are many other gene mutations that can cause ALS This study will not test these other genes and therefore a negative test result for the C9ORF72 mutation will not exclude the possibility that you have a heritable form of ALS
In order to understand the natural history of C9ORF72 related ALS in terms of measures of rate of progression the investigators need to understand how the size of the hexanucleotide repeat expansion influences disease parameters A C9ORF72-focused clinical trial defining an accurate historical control population will be critical since there may not be enough subjects for a placebo controlled trial To be ready for upcoming therapeutic trials the investigators need to start the detailed characterization of the C9ORF72 patients immediately
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None