Phenotype, Genotype and Biomarkers 2
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Amyotrophic Lateral Sclerosis
- Sponsor
- University of Miami
- Enrollment
- 217
- Locations
- 8
- Primary Endpoint
- Rates of change in revised ALS functional rating scale (ALSFRS-R)
- Status
- Active, not recruiting
- Last Updated
- last month
Overview
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.
Investigators
Michael Benatar
Professor
University of Miami
Eligibility 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
Outcomes
Primary Outcomes
Rates of change in revised ALS functional rating scale (ALSFRS-R)
Time Frame: 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
Serum
Time Frame: 48 months
Determine the diagnostic utility of serum neurofilament concentrations
Rates of change in Spastic paraplegia rating scale (SPRS)
Time Frame: 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)
Time Frame: 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)
Time Frame: 48 months
Validate the ALS Health Index (ALS-HI), a novel patient reported outcome (PRO) measure
Cerebrospinal Fluid (CSF)
Time Frame: 48 months
Determine the diagnostic utility of CSF neurofilament concentrations
Rates of change in Slow vital capacity (SVC)
Time Frame: 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