Phenotype, Genotype and Biomarkers 2

Amyotrophic Lateral Sclerosis Clinical Trial

— PGB2  

Official title:

Phenotype, Genotype and Biomarkers 2

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04875416
• Other study ID #: 20200888
• Secondary ID: U54NS092091
• Status: Recruiting
• Start date: January 8, 2021
• Est. completion date: August 2025

Study information

• Verified date: March 2024
• Source: University of Miami
• Contact: Michael Benatar, MD, PhD
• Phone: 1-844-837-1031
• Email: projectcreate[@]miami.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: August 2025
• Est. primary completion date: August 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 7 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Amyotrophic Lateral Sclerosis
• Aphasia, Primary Progressive
• Frontotemporal Dementia
• Hereditary Spastic Paraplegia
• Motor Neuron Disease
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Paraplegia
• Pick Disease of the Brain
• Primary Lateral Sclerosis
• Progressive Muscular Atrophy
• Sclerosis
• Spastic Paraplegia, Hereditary

Locations

Country	Name	City	State
South Africa	University of Cape Town	Cape Town
United States	University of Kansas Medical Center	Kansas City	Kansas
United States	University of Miami	Miami	Florida
United States	University of Pennsylvania	Philadelphia	Pennsylvania

Sponsors (3)

Lead Sponsor	Collaborator
University of Miami	National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH)

Countries where clinical trial is conducted

United States,  South Africa, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Rates of change in revised ALS functional rating scale (ALSFRS-R)	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	48 months
Primary	Rates of change in Slow vital capacity (SVC)	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	48 months
Primary	Rates of change in Spastic paraplegia rating scale (SPRS)	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	48 months
Primary	Rates of change in Edinburgh Cognitive and Behavioral ALS Screen (ECAS)	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	48 months
Primary	ALS Health Index (ALS-HI)	Validate the ALS Health Index (ALS-HI), a novel patient reported outcome (PRO) measure	48 months
Primary	Serum	Determine the diagnostic utility of serum neurofilament concentrations	48 months
Primary	Cerebrospinal Fluid (CSF)	Determine the diagnostic utility of CSF neurofilament concentrations	48 months