Phenotype, Genotype and Biomarkers 2

NCT ID: NCT04875416

Last Updated: 2025-08-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-01-08

Study Completion Date

2028-08-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Amyotrophic Lateral Sclerosis Hereditary Spastic Paraplegia Primary Lateral Sclerosis Progressive Muscular Atrophy Frontotemporal Dementia

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Primary participants

Patients that have or are suspected to have ALS or a related neurodegenerative disease

No interventions assigned to this group

Secondary Participants

Family members of primary participants enrolled in the study

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* 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


* Family member of an enrolled affected primary participant

Exclusion Criteria

* 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


* 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
Minimum Eligible Age

7 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

National Institutes of Health (NIH)

NIH

Sponsor Role collaborator

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role collaborator

University of Miami

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Michael Benatar

Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Michael Benatar, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

University of Miami

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

University of Miami

Miami, Florida, United States

Site Status RECRUITING

University of Kansas Medical Center

Kansas City, Kansas, United States

Site Status RECRUITING

University of Pennsylvania

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

University of Cape Town

Cape Town, , South Africa

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

United States South Africa

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Michael Benatar, MD, PhD

Role: CONTACT

1-844-837-1031

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Jessica Hernandez

Role: primary

305-243-2345

Osvaldo Plascencia

Role: primary

913-945-9922

Jordana Woodford

Role: primary

215-898-3081

Jeannine Heckmann, MD

Role: primary

+27 (021) 404-3198

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

U54NS092091

Identifier Type: NIH

Identifier Source: secondary_id

View Link

20200888

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

PREVENT ALL ALS Study
NCT06581861 RECRUITING
ALS Research Collaborative
NCT06885918 RECRUITING