NCT04875416

Phenotype, Genotype and Biomarkers 2

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 217 (actual)
• Sponsor: University of Miami · Academic / Other
• Sex: All
• Age: 7 Years
• Healthy volunteers: Accepted

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.

Conditions

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

Timeline

• Start date: 2021-01-08
• Primary completion: 2026-09-01
• Completion: 2028-08-01
• First posted: 2021-05-06
• Last updated: 2026-03-23

Locations

4 sites across 2 countries: United States, South Africa