Phenotype, Genotype and Biomarkers 2

University of Miami300 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

300

Conditions

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

Eligibility

Sex: ALLMin age: 7 Years

Medical Language ↔ Plain English

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

Locations (4)

University of Miami

Miami, Florida, United States

RECRUITING

University of Kansas Medical Center

Kansas City, Kansas, United States

RECRUITING

University of Pennsylvania

Philadelphia, Pennsylvania, United States

RECRUITING

University of Cape Town

Cape Town, South Africa

RECRUITING

Outcomes

Primary Outcomes

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

Time frame: 48 months

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

Time frame: 48 months

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

Time frame: 48 months

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

Time frame: 48 months

ALS Health Index (ALS-HI)

Validate the ALS Health Index (ALS-HI), a novel patient reported outcome (PRO) measure

Time frame: 48 months

Serum

Determine the diagnostic utility of serum neurofilament concentrations

Time frame: 48 months

Cerebrospinal Fluid (CSF)

Determine the diagnostic utility of CSF neurofilament concentrations

Time frame: 48 months

Phenotype, Genotype and Biomarkers 2

Overview

Conditions

Eligibility

Locations (4)

Outcomes

Primary Outcomes

Central Contacts