Phenotype, Genotype and Biomarkers 2

Recruiting

• Conditions: Amyotrophic Lateral Sclerosis; Hereditary Spastic Paraplegia; Frontotemporal Dementia; Primary Lateral Sclerosis; Progressive Muscular Atrophy

• Registration Number: NCT04875416
• Lead Sponsor: University of Miami

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-01-08
• Study First Submitted: 2021-04-14
• Study First Submitted QC: 2021-04-30
• Study First Posted: 2021-05-06
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-16
• Last Update Posted: 2024-12-17
• Primary Completion: 2025-08
• Study Completion: 2026-08

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 300

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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
Serum	48 months	Determine the diagnostic utility of serum neurofilament concentrations
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
Cerebrospinal Fluid (CSF)	48 months	Determine the diagnostic utility of CSF neurofilament concentrations
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

Trial Locations

Locations (4)

University of Pennsylvania; 🇺🇸 Philadelphia, Pennsylvania, United States

University of Miami; 🇺🇸 Miami, Florida, United States

University of Cape Town; 🇿🇦 Cape Town, South Africa

University of Kansas Medical Center; 🇺🇸 Kansas City, Kansas, United States