TRIAL READY (Clinical Trial Readiness)

University of Miami

Status: Active, not recruiting

Conditions: Primary Lateral Sclerosis; Frontotemporal Dementia; Amyotrophic Lateral Sclerosis; Progressive Muscular Atrophy; ALS-Frontotemporal Dementia

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT03912987

20180908

U01NS107027 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

This study, being conducted under the auspice of the CReATe Consortium, will enroll patients with ALS and related disorders as well as healthy controls, with the goal of facilitating clinical validation of leading biological-fluid based biomarker candidates that may aid therapy development for patients with ALS and related disorders.

Full description

This multi-center study aims to clinically validate leading biological-fluid-based biomarker candidates as potential prognostic and pharmacodynamic biomarkers that have the potential to facilitate therapy development for patients with ALS and related disorders. Biomarker candidates that will be considered include: urinary p75 neurotrophin receptor extracellular domain (p75ECD), blood and cerebrospinal fluid (CSF) phosphorylated neurofilament heavy (pNfH), blood and CSF neurofilament light (NfL) and, in the population with a C9orf72 hexanucleotide repeat expansion, peripheral blood mononuclear cell (PBMC) and CSF levels of the dipeptide repeat protein poly(GP). In pursuit of these goals, the CReATe Consortium is already collecting longitudinal biological samples from patients with ALS and related disorders through the ongoing Phenotype-Genotype-Biomarker (PGB) study. TRIAL READY aims to identify additional patients with the C9orf72 hexanucleotide repeat expansion mutation (HREM), the most common genetic cause of ALS, who may be further followed through the PGB study. This study will also enroll and longitudinally evaluate a cohort of age- and gender-match healthy controls.

Enrollment: 610 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Member of at least one of the following categories:

  1. Individuals with a clinical diagnosis of ALS or a related disorder, including FTD, ALS-FTD, PLS, and PMA.
  2. Individuals never diagnosed with and not at particular risk of developing ALS or a related disorder.

• Able and willing to comply with relevant procedures.

Exclusion criteria

• A condition or 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. This includes (but is not limited to) neurological, psychological and/or medical conditions.

Trial design

610 participants in 2 patient groups

Affected

Description:

Affected with ALS or a related disorder, including ALS-FTD, FTD, PLS, and PMA.

Healthy Controls

Description:

Those never diagnosed with and not at particular risk for developing ALS or a related disorder.