NCT03464903

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
26

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Jun 2018

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 8, 2018

Completed
6 days until next milestone

First Posted

Study publicly available on registry

March 14, 2018

Completed
3 months until next milestone

Study Start

First participant enrolled

June 22, 2018

Completed
5.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2023

Completed
Last Updated

January 11, 2024

Status Verified

January 1, 2024

Enrollment Period

5.4 years

First QC Date

March 8, 2018

Last Update Submit

January 9, 2024

Conditions

Keywords

amyotrophic lateral sclerosisprogressive muscular atrophymotor neuron diseaseALS reversalswhole genome sequencing

Outcome Measures

Primary Outcomes (1)

  • genetic comparison

    comparison of genes of participants with ALS reversals to genes of more typically progressive patients with ALS

    1 day

Secondary Outcomes (1)

  • factors associated with genes

    1 day

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may qualify if:

  • Prior participation in Documentation of Known ALS Reversals (Duke IRB Pro00076395)
  • Confirmation of ALS or PMA (primary muscular atrophy) diagnosis through medical record review (previously documented in Documentation of Known ALS Reversals protocol)
  • 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)
  • Able to understand English

You may not qualify if:

  • 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
  • Prior participation in the Phenotype Genotype and Biomarkers in ALS and Related Disorders (RDCRN #8001) protocol

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Duke ALS Clinic / DUSOM Dept of Neurology / DUHS

Durham, North Carolina, 27705, United States

Location

Related Publications (7)

  • Ozdinler PH, Silverman RB. Treatment of amyotrophic lateral sclerosis: lessons learned from many failures. ACS Med Chem Lett. 2014 Oct 8;5(11):1179-81. doi: 10.1021/ml500404b. eCollection 2014 Nov 13.

    PMID: 25408825BACKGROUND
  • http://www.wsj.com/articles/the-mystery-of-als-patients-who-see-improvement-1465845332

    BACKGROUND
  • ALSUntangled Group. ALSUntangled No. 12: Dean Kraft, Energy Healer. Amyotroph Lateral Scler. 2011 Sep;12(5):389-91. doi: 10.3109/17482968.2011.609309. No abstract available.

    PMID: 21981685BACKGROUND
  • Harrison D and Bedlack R (unpublished data).

    BACKGROUND
  • Bedlack RS, Vaughan T, Wicks P, Heywood J, Sinani E, Selsov R, Macklin EA, Schoenfeld D, Cudkowicz M, Sherman A. How common are ALS plateaus and reversals? Neurology. 2016 Mar 1;86(9):808-12. doi: 10.1212/WNL.0000000000002251. Epub 2015 Dec 9.

    PMID: 26658909BACKGROUND
  • Samson M, Libert F, Doranz BJ, Rucker J, Liesnard C, Farber CM, Saragosti S, Lapoumeroulie C, Cognaux J, Forceille C, Muyldermans G, Verhofstede C, Burtonboy G, Georges M, Imai T, Rana S, Yi Y, Smyth RJ, Collman RG, Doms RW, Vassart G, Parmentier M. Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature. 1996 Aug 22;382(6593):722-5. doi: 10.1038/382722a0.

    PMID: 8751444BACKGROUND
  • Crayle JI, Rampersaud E, Myers JR, Wuu J, Taylor JP, Wu G, Benatar M, Bedlack RS. Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype. Neurology. 2024 Aug 27;103(4):e209696. doi: 10.1212/WNL.0000000000209696. Epub 2024 Jul 30.

Related Links

MeSH Terms

Conditions

Amyotrophic Lateral SclerosisMuscular Atrophy, SpinalMotor Neuron Disease

Condition Hierarchy (Ancestors)

Spinal Cord DiseasesCentral Nervous System DiseasesNervous System DiseasesNeurodegenerative DiseasesTDP-43 ProteinopathiesNeuromuscular DiseasesProteostasis DeficienciesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Richard S Bedlack, MD, PhD

    Duke Health

    STUDY CHAIR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
OTHER
Target Duration
1 Day
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 8, 2018

First Posted

March 14, 2018

Study Start

June 22, 2018

Primary Completion

December 1, 2023

Study Completion

December 1, 2023

Last Updated

January 11, 2024

Record last verified: 2024-01

Data Sharing

IPD Sharing
Will share

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.

Locations