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.

Study Status:

Recruiting

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

Type of Intervention:

N/A

Intervention Name:

N/A

Placebo:

N/A

Phase:

N/A

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

Michael Benatar, MD, PhD University of Miami

Clinicaltrials.gov ID:

NCT04875416

Neals Affiliated?

No

Coordinating Center Contact Information

University of Miami

Michael Benatar, MD, PhD / email hidden; JavaScript is required / 844-837-1031

Miami, Florida, 33136 United States

Study Sponsor:

University of Miami

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 neals.org:

05 / 12 / 2021

Accepts healthy volunteers:

Yes

Minimum Age:

7

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

University of Miami

Jessica Hernandez / 305-243-2345 / email hidden; JavaScript is required

Miami, Florida 33136
United States

University of Kansas Medical Center

Collin Gerringer / 913-748-5701 / email hidden; JavaScript is required

Kansas City, Kansas 66160
United States

University of Pennsylvania

Luis Rosario / 215-898-3081 / email hidden; JavaScript is required

Philadelphia, Pennsylvania 19104
United States

University of Cape Town

Jeannine Heckmann, MD / +27 (021) 404-3198 / email hidden; JavaScript is required

Cape Town
South Africa