Study of ALS Reversals 2: Genetic Analyses

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

26 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-06-22

Study Completion Date

2023-12-01

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Study of ALS Reversals 4: LifeTime Exposures

NCT03706391

Amyotrophic Lateral Sclerosis Progressive Muscular Atrophy Motor Neuron Disease

COMPLETED

Phenotype, Genotype & Biomarkers in ALS and Related Disorders

NCT02327845

Amyotrophic Lateral Sclerosis Frontotemporal Dementia Primary Lateral Sclerosis +3 more

ENROLLING_BY_INVITATION

Studies in Amyotrophic Lateral Sclerosis (ALS) and Other Neurodegenerative Motor Neuron Disorders

NCT05474235

Amyotrophic Lateral Sclerosis

RECRUITING

Home Monitoring of Adult Patients With SMA: a Pilot Multicenter Validation Study

NCT05839145

Muscular Atrophy, Spinal, Type II Muscular Atrophy, Spinal, Type III

NOT_YET_RECRUITING NA

Phenotype, Genotype and Biomarkers 2

NCT04875416

Amyotrophic Lateral Sclerosis Hereditary Spastic Paraplegia Primary Lateral Sclerosis +2 more

RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Amyotrophic Lateral Sclerosis Progressive Muscular Atrophy

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_CONTROL

Study Time Perspective

OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

1. Prior participation in Documentation of Known ALS Reversals (Duke IRB Pro00076395)
2. Confirmation of ALS or PMA (primary muscular atrophy) diagnosis through medical record review (previously documented in Documentation of Known ALS Reversals protocol)
3. Sustained, robust improvement on at least one objective ALS outcomes measure (ex. ALSFRS-R, FVC, strength testing, EMG) (previously documented in Documentation of Known ALS Reversals protocol)
4. Able to understand English

Exclusion Criteria

1. History of cognitive impairment severe enough to preclude informed consent, reported by patient on direct questioning or as suspected by research personnel from Documentation of Known ALS Reversals (Duke IRB Pro00076395) study data
2. Prior participation in the Phenotype Genotype and Biomarkers in ALS and Related Disorders (RDCRN #8001) protocol

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes