Phenotype, Genotype and Biomarkers 2

NCT04875416 | Active Not Recruiting

• 2 other identifiers: 20200888U54NS092091
• Study Type: observational
• Target: 217
• Locations: 2 countries
• Sites: 4

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.

Conditions

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

Keywords

ALS; PLS; PMA; HSP; FTD; MSP

Outcome Measures

Primary Outcomes (7)

• 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

Study Arms (2)

Primary participants

Patients that have or are suspected to have ALS or a related neurodegenerative disease

Secondary Participants

Family members of primary participants enrolled in the study

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Primary participants - patients that have or are suspected to have ALS or a related disease. Secondary participants - family members of primary participants enrolled in the study

You may qualify if:

• 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

You may not qualify if:

• 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
• Family member of an enrolled affected primary participant
• 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

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• University of Miami: lead
• National Institutes of Health (NIH): collaborator

Study Sites (4)

University of Miami

Miami, Florida, 33136, United States

Location

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

University of Cape Town

Cape Town, South Africa

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood, Urine and CSF

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis; Spastic Paraplegia, Hereditary; Motor Neuron Disease; Muscular Atrophy, Spinal; Frontotemporal Dementia

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases; Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Heredodegenerative Disorders, Nervous System; Polyneuropathies; Peripheral Nervous System Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Frontotemporal Lobar Degeneration; Dementia; Brain Diseases; Neurocognitive Disorders; Mental Disorders

Study Officials

• Michael Benatar, MD, PhD

  University of Miami

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: April 14, 2021
• First Posted: May 6, 2021
• Study Start: January 8, 2021
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): August 1, 2028
• Last Updated: March 23, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (3); ZA (1)