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Trial record 3 of 6 for:    star2

Study of ALS Reversals 2: Genetic Analyses (StAR2)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT03464903
Recruitment Status : Active, not recruiting
First Posted : March 14, 2018
Last Update Posted : December 21, 2022
CReATe Consortium (funded by NIH/NCATS/NINDS)
Information provided by (Responsible Party):
Duke University

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.

Condition or disease
Amyotrophic Lateral Sclerosis Progressive Muscular Atrophy

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.

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Study Type : Observational [Patient Registry]
Actual Enrollment : 26 participants
Observational Model: Case-Control
Time Perspective: Other
Target Follow-Up Duration: 1 Day
Official Title: ALS Reversals: Genetic Analyses (St.A.R. Protocol 2) RDCRN CReATe Protocol #8007
Actual Study Start Date : June 22, 2018
Estimated Primary Completion Date : August 1, 2025
Estimated Study Completion Date : August 1, 2025

Primary Outcome Measures :
  1. genetic comparison [ Time Frame: 1 day ]
    comparison of genes of participants with ALS reversals to genes of more typically progressive patients with ALS

Secondary Outcome Measures :
  1. factors associated with genes [ Time Frame: 1 day ]
    further genetic analysis for any interaction of demographics, rate of disease progression, or disease characteristics

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Participants will be enrolled by invitation only. Potential participants will have had a previously verified diagnosis of ALS or PMA and a verified sustained and robust reversal of disease.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03464903

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United States, North Carolina
Duke ALS Clinic / DUSOM Dept of Neurology / DUHS
Durham, North Carolina, United States, 27705
Sponsors and Collaborators
Duke University
CReATe Consortium (funded by NIH/NCATS/NINDS)
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Study Chair: Richard S Bedlack, MD, PhD Duke Health
Additional Information:
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Responsible Party: Duke University
ClinicalTrials.gov Identifier: NCT03464903    
Other Study ID Numbers: Pro00091570
8007 ( Registry Identifier: Rare Disease Clinical Research Network )
First Posted: March 14, 2018    Key Record Dates
Last Update Posted: December 21, 2022
Last Verified: December 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description:

Information obtained from this analysis (genotypic data), as well as information about disease signs and symptoms (phenotypic data), will be entered into one or more scientific repositories maintained by organizations such as the New York Genome Center (NYGC) and the Federal Government. One such repository is the Database of Genotypes and Phenotypes (dbGaP), a data repository at the NIH. All data and information will be submitted via a secure transmission process to a high security network within NIH.

While the information and data resulting from this study may be presented at scientific meetings or published in a scientific journal, your name or other personal information will not be revealed.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Duke University:
amyotrophic lateral sclerosis
progressive muscular atrophy
motor neuron disease
ALS reversals
whole genome sequencing
Additional relevant MeSH terms:
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Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Muscular Atrophy
Muscular Atrophy, Spinal
Pathologic Processes
Pathological Conditions, Anatomical
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases
Neuromuscular Manifestations
Neurologic Manifestations