Phenotype, Genotype and Biomarkers 2

Study Purpose:

The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). More precisely, the investigator wants to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). The investigator also wants to identify biomarkers of ALS and related diseases.

Disease:

Amyotrophic Lateral Sclerosis (ALS),  Familial ALS,  Sporadic ALS, Primary Lateral Sclerosis (PLS), Hereditary Spastic Paraplegia (HSP), Healthy Volunteer, Healthy Volunteer with a Family History of ALS

Study Type:

Observational Study

Study Category:

Biomarkers/Imaging

Study Status:

Enrolling

Phase:

Not Applicable

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

Michael Benatar, MD, PhD University of Miami

Clinicaltrials.gov ID (11 digit #):

NCT04875416

Neals Affiliated?

No

Coordinating Center Contact Information

University of Miami
Michael Benatar, MD, PhD / .(JavaScript must be enabled to view this email address) / 844-837-1031
.(JavaScript must be enabled to view this email address) Miami, Florida 33136 United States

Full Study Summary:

Study Sponsor:

University of Miami

Participant Duration:

Estimated Enrollment:

300

Estimated Study Start Date:

01/08/2021

Estimated Study Completion Date:

06/30/2024

Posting Last Modified Date:

05/12/2021

Date Study Added to alsconsortium.org:

05/12/2021
  • Eligibility Criteria

    Gender:

    Female, Male

    Minimum Age:

    7

    Maximum Age:

    N/A

    Time since Symptom Onset:

    N/A

    Time since Diagnosis:

    N/A

    Can participants use Riluzole?

    Yes


    Study Population

    Primary participants - patients that have or are suspected to have ALS or a related disease.

    Secondary participants - family members of primary participants enrolled in the study

    Criteria

    Inclusion Criteria for affected individuals (primary participants) include:

    • Clinical diagnosis or suspicion of ALS or a related disorder, including, but not limited to, ALS-FTD, PLS, HSP, FTD, Multisystem Proteinopathy (MSP) and PMA.
    • Subject is able and willing to comply with study procedures

    Exclusion Criteria for affected individuals (primary participants) include:

    • Subjects with a condition or who are in a situation which, in the PI's opinion, could confound the study finding or may interfere significantly with the individual's participation and compliance with the study protocol -- including but not limited to neurological, psychological and/or medical conditions

    Inclusion criteria for biological family members (secondary participants) include:

    • Family member of an enrolled affected primary participant

    Exclusion Criteria for biological family members (secondary participants) include:

    • Subjects with a condition or who are in a situation which, in the PI's opinion, could confound the study finding or may interfere significantly with the individual's participation and compliance with the study protocol -- including but not limited to neurological, psychological and/or medical conditions

  • Site Contact Information

    University of Miami
    Jessica Hernandez / .(JavaScript must be enabled to view this email address) / 305-243-2345
    Miami, Florida 33136
    United States

    University of Kansas Medical Center
    Collin Gerringer / .(JavaScript must be enabled to view this email address) / 913-748-5701
    Kansas City, Kansas 66160
    United States

    University of Pennsylvania
    Luis Rosario / .(JavaScript must be enabled to view this email address) / 215-898-3081
    Philadelphia, Pennsylvania 19104
    United States

    University of Cape Town
    Jeannine Heckmann, MD / .(JavaScript must be enabled to view this email address) / +27 (021) 404-3198
    Cape Town,
    South Africa