The purpose of the St.A.R. 2 study (Study of ALS Reversals 2: Genetic Analyses) is to try to understand why reversals of amyotrophic lateral sclerosis (ALS) and primary muscular atrophy (PMA) take place. The study will be enrolling patients with ALS and/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.
- Amyotrophic Lateral Sclerosis (ALS)
- Primary Muscular Atrophy (PMA)
Amyotrophic Lateral Sclerosis (ALS) and Primary Muscular Atrophy (PMA) are devastating motor neuron diseases that typically cause rapidly progressive muscle weakness, disability and premature death. There exists a small group of patients that were previously identified in the St.A.R. 1 study (Study of ALS Reversals 1: Documentation of Known ALS Reversals), who were diagnosed with ALS or PMA, progressed for a period of time, and then significantly improved.
About This Study
This is a pilot study of 34 individuals that had a reversal of ALS or PMA. Those participating in this study will provide information about themselves, their disease and their family’s medical history along with saliva samples. The study takes approximately an hour to complete and can be done remotely.
To be eligible to participate, you must:
- Have previously participated in the St.A.R. 1 protocol
- Have a diagnosis of ALS or PMA
- Have had continued, robust improvement on at least one objective ALS outcomes measure (for example, ALSFRS-R [ALS Functional Rating Scale-Revised], FVC [Forced Vital Capacity], muscle strength testing, EMG [electromyography] )
- Be able to understand English
You are not eligible to participate if:
- You have a history of cognitive impairment that affects your capacity to provide informed consent
- You are participating in the Phenotype, Genotype and Biomarkers in ALS and Related Disorders (PGB) study
How to Participate:
In order to participate in this study, please contact the study coordinator at one of the participating institutions by phone or by e-mail.