Phenotype, Genotype and Biomarkers 2

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04875416

Acronym

PGB2

Enrollment

217

Registered

2021-05-06

Start date

2021-01-08

Completion date

2031-09-01

Last updated

2026-06-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

Keywords

ALS, PLS, PMA, HSP, FTD, MSP

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

7 Years to No maximum

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
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
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
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
Serum	48 months	Determine the diagnostic utility of serum neurofilament concentrations
Cerebrospinal Fluid (CSF)	48 months	Determine the diagnostic utility of CSF neurofilament concentrations

Countries

South Africa, United States

Contacts

PRINCIPAL_INVESTIGATORMichael Benatar, MD, PhD

University of Miami

Outcome results