Phenotype, Genotype and Biomarkers 2

Study Overview
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Brief Summary
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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.

Official Title
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Phenotype, Genotype and Biomarkers 2

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

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 7 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

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

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 
| 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 | 
| 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 | 
| 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 | 
| ALS Health Index (ALS-HI) | Validate the ALS Health Index (ALS-HI), a novel patient reported outcome (PRO) measure | 48 months | 
| Serum | Determine the diagnostic utility of serum neurofilament concentrations | 48 months | 
| Cerebrospinal Fluid (CSF) | Determine the diagnostic utility of CSF neurofilament concentrations | 48 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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ALS, PLS, PMA, HSP, FTD, MSP