Ignite Creation Date:
2024-05-06 @ 11:14 AM
Last Modification Date:
2024-10-26 @ 12:42 PM
Study NCT ID:
NCT03464903
Status:
COMPLETED
Last Update Posted:
2024-01-11
First Post:
2018-03-08
Brief Title:
Study of ALS Reversals 2 Genetic Analyses
Sponsor:
Duke University
Organization:
Duke University
Study Overview
Official Title:
ALS Reversals Genetic Analyses StAR Protocol 2 RDCRN CReATe Protocol 8007
Status:
COMPLETED
Status Verified Date:
2024-01
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:
StAR2
Brief Summary:
The purpose of this study is to try to understand why reversals of amyotrophic lateral sclerosis ALS and primary muscular atrophy PMA take place The study will enroll patients with ALS or PMA reversals to give saliva samples in order to determine if the ALS or PMA reversal is because of certain changes in the genetic code
Detailed Description:
Amyotrophic Lateral Sclerosis ALS is a devastating motor neuron disease that typically causes rapidly progressive muscle weakness disability and premature death In spite of a large number of attempted ALS trials there are no significant disease-modifying therapies for this condition to-date
There exists a small group of patients who meet diagnostic criteria for ALS or progressive muscular atrophy PMA progress for a period of time and then significantly improve Some of these ALS reversals even make a complete recovery back to normal neurological function The investigator has independently verified 34 of these cases so far through review of medical records and peer-reviewed literature These patients are different in their demographics and disease characteristics as compared to patients with more typically progressive ALS One possible explanation for these cases is that these patients are genetically different than most patients with ALS and that these differences confer a form of disease resistance Study of these selected reversal patients may yield valuable clues to endogenous mechanisms of ALS resistance The concept of genetic conferred ability to resist a disease is not novel A group of patients who could unexpectedly control HIV due to a mutant allele has led to an improved understanding of HIV pathophysiology and a new treatment
This is a pilot case-control study attempting to discover genetic correlates to ALS reversals The investigator will collect demographics disease characteristics pedigree information and saliva samples from ALS reversals Whole genome DNA will be extracted and sequenced from these saliva samples The genomes of ALS reversals will then be compared with whole genome sequencing previously completed from a biorepository of de-identified samples of more typically progressive patients with ALS The study will not save any saliva samples collected as a part of this new protocol for future research
There exists a small group of patients who meet diagnostic criteria for ALS or progressive muscular atrophy PMA progress for a period of time and then significantly improve Some of these ALS reversals even make a complete recovery back to normal neurological function The investigator has independently verified 34 of these cases so far through review of medical records and peer-reviewed literature These patients are different in their demographics and disease characteristics as compared to patients with more typically progressive ALS One possible explanation for these cases is that these patients are genetically different than most patients with ALS and that these differences confer a form of disease resistance Study of these selected reversal patients may yield valuable clues to endogenous mechanisms of ALS resistance The concept of genetic conferred ability to resist a disease is not novel A group of patients who could unexpectedly control HIV due to a mutant allele has led to an improved understanding of HIV pathophysiology and a new treatment
This is a pilot case-control study attempting to discover genetic correlates to ALS reversals The investigator will collect demographics disease characteristics pedigree information and saliva samples from ALS reversals Whole genome DNA will be extracted and sequenced from these saliva samples The genomes of ALS reversals will then be compared with whole genome sequencing previously completed from a biorepository of de-identified samples of more typically progressive patients with ALS The study will not save any saliva samples collected as a part of this new protocol for future research
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 |
|---|---|---|---|
| 8007 | REGISTRY | Rare Disease Clinical Research Network | None |