Study of ALS Reversals 2: Genetic Analyses
Last updated on July 2021Recruitment
- Recruitment Status
- Enrolling by invitation
- Estimated Enrollment
- Same as current
Summary
- Conditions
- Amyotrophic Lateral Sclerosis
- Progressive Muscular Atrophy
- Design
- Observational Model: Case-ControlTime Perspective: Other
Participation Requirements
- Age
- Younger than 125 years
- Gender
- Both males and females
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. Th...
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.
Tracking Information
- NCT #
- NCT03464903
- Collaborators
- Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium (funded by NIH/NCATS/NINDS)
- Investigators
- Study Chair: Richard S Bedlack, MD, PhD Duke Health