PGB2: Phenotype, Genotype and Biomarkers 2

Sponsor

University of Miami (Other)

Overall Status

Recruiting

CT.gov ID

NCT04875416

Collaborator

National Institutes of Health (NIH) (NIH), National Institute of Neurological Disorders and Stroke (NINDS) (NIH)

300

Enrollment

Locations

40.7

Anticipated Duration (Months)

Patients Per Site

1.8

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Amyotrophic Lateral Sclerosis Hereditary Spastic Paraplegia Primary Lateral Sclerosis Progressive Muscular Atrophy Frontotemporal Dementia

Study Design

Study Type:

Observational

Anticipated Enrollment :

300 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Phenotype, Genotype and Biomarkers 2

Actual Study Start Date :

Jan 8, 2021

Anticipated Primary Completion Date :

Jun 1, 2024

Anticipated Study Completion Date :

Jun 1, 2024

Arms and Interventions

Arm	Intervention/Treatment
Primary participants Patients that have or are suspected to have ALS or a related neurodegenerative disease
Secondary Participants Family members of primary participants enrolled in the study

Outcome Measures

Primary Outcome Measures

Rates of change in revised ALS functional rating scale (ALSFRS-R) [48 months]
Prepare motor outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease
Rates of change in Slow vital capacity (SVC) [48 months]
Prepare motor outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease
Rates of change in Spastic paraplegia rating scale (SPRS) [48 months]
Prepare cognitive and behavioral outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease
Rates of change in Edinburgh Cognitive and Behavioral ALS Screen (ECAS) [48 months]
Prepare cognitive and behavioral outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease
ALS Health Index (ALS-HI) [48 months]
Validate the ALS Health Index (ALS-HI), a novel patient reported outcome (PRO) measure
Serum [48 months]
Determine the diagnostic utility of serum neurofilament concentrations
Cerebrospinal Fluid (CSF) [48 months]
Determine the diagnostic utility of CSF neurofilament concentrations

Eligibility Criteria

Criteria

Ages Eligible for Study:

7 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of Miami	Miami	Florida	United States	33136
2	University of Kansas Medical Center	Kansas City	Kansas	United States	66160
3	University of Pennsylvania	Philadelphia	Pennsylvania	United States	19104
4	University of Cape Town	Cape Town		South Africa