Phenotype, Genotype and Biomarkers 2 (PGB2)

University of Miami

Status: Enrolling

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

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT04875416

U54NS092091 (U.S. NIH Grant/Contract)

20200888

Details and patient eligibility

About

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.

Enrollment: 300 estimated patients

Sex: All

Ages: 7+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion 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

Trial design

300 participants in 2 patient groups

Primary participants

Description:

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

Secondary Participants

Description:

Family members of primary participants enrolled in the study