Generation and characterization of cell lines for amyotrophic lateral sclerosis

Study Purpose:

This research is designed to augment the understanding of amyotrophic lateral sclerosis (ALS) by looking at skin cells from people with genetically confirmed familial ALS, as well as those from healthy individuals. Once the skin cells have been grown in the laboratory, they will be used to generate induced pluripotent stem cells, which will be made into nerve cells. Scientists will then be able to study these cells to learn more about ALS and potential treatments.


Amyotrophic Lateral Sclerosis (ALS),  Familial ALS

Study Type:

Observational Study

Study Category:

Neals Affiliated , Diseases , Study Type , Study Status , Phase , Gender

Study Status:

Not enrolling


Not Applicable

Study Chair(s)/Principal Investigator(s):

Nicholas Maragakis, MD, Johns Hopkins University
Jeffrey Rothstein, MD, PhD, Johns Hopkins University ID (11 digit #):

Neals Affiliated?


Coordinating Center Contact Information

Johns Hopkins University
.(JavaScript must be enabled to view this email address)
.(JavaScript must be enabled to view this email address) Baltimore, Maryland 21287 United States

Full Study Summary:

Study Sponsor:


Participant Duration:

Estimated Enrollment:


Estimated Study Start Date:


Estimated Study Completion Date:


Posting Last Modified Date:


Date Study Added to

  • Eligibility Criteria


    Female, Male

    Minimum Age:


    Maximum Age:


    Time since Symptom Onset:

    Time since Diagnosis:

    Can participants use Riluzole?

  • Site Contact Information

    Johns Hopkins University
    Baltimore, Maryland 21287
    United States

  • Study Results

    Although we do not fully know if disease study of cells in Petri dishes can fully emulate the developmental progression that occurs in human adult neurodegenerative disease like ALS, new described technical ability to generate Induced Pluripotent Cells (iPS) from ALS patients provides an exceptional tool by which we can explore these issues. Many recent insights into the pathophysiology of ALS come from the study of familial forms of this disease. The ability to actually have human cell lines- representing the natural disease in the most relevant cell types- motor neurons and astrocytes- will provide unprecedented tools to 1) study cell- cell interactions responsible for disease pathophysiology and 2) provide critical tools for drug discovery and genetic pathway analysis. Eventually these ALS cell lines will also be useful to compare common and uncommon pathways between ALS and other neurodegenerative iPS models. But - iPS cell biology is exceptionally new and we do not yet have sufficient information about the reliability of the cells generated, their ability to truly reflect human cell biology, recapitulate the protein, genetic and functional characteristics of native motor neurons and astroglia. Before we can embark on extensive use of these cells for basic/translational research- it would be critical to generate a series of cell lines- all produced under identical conditions, from different fALS mutations, to determine how representative they are for cell type specificity and functional biology. The overall proposal will involve four principal investigators, working in tight collaboration, to generate and evaluate familial ALS (fALS) iPS cell lines. Project 1, led by Dr. Eggan will obtain the skin biopsies from FALS and control patients, generate the fibroblast and ultimately the initial iPS lines. We will employ the aid of iZumi, a biotech company to be a central site for uniform protocol iPS cell generation. iPS cell lines with neural/glial characteristics will be sent to the Project 2 Lab- Motor neuron biology, lead by Chris Henderson and to Project 3 lab, Astrocytes- lead by Jeffrey Rothstein. These two projects/labs will determine which of the fALS iPS cell lines have the appropriate characteristics of motor neurons and astroglia, through a series of sequential analyses. Only those cell lines that meet final criteria (as compared to human ES cell and prior work on human astroglia) will then go on for final genetic analysis in the Project 4 lab, lead by Tom Maniatis.

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