Target ALS Biomarker Study; Longitudinal Biofluids, Clinical Measures, and At Home Measures

NCT05137665 | Recruiting

• 1 other identifier: 21-500-101-70-09
• Study Type: observational
• Target: 1,000
• Locations: 3 countries
• Sites: 12

Brief Summary

The goal of the study is to generate a biorepository of longitudinal biofluids-blood (plasma and serum), cerebral spinal fluid (CSF) and urine linked to genetics and longitudinal clinical information that are made available to the research community. To accomplish these goals, we will enroll 800 Amyotrophic Lateral Sclerosis (ALS) patients and 200 healthy controls from sites globally, over a 5 year time frame. Additionally, speech and motor function and spirometry measures will be collected bi-weekly in a subset of participants. ALS participants will be asked to come to the clinic for 5 study visits approximately every 4 months. Healthy participants will be coming for 2 study visits with a 12-month interval between visits. These samples and clinical information will be stored in a de-identified manner and made available for investigators to use in future research studies.

Conditions

Amyotrophic Lateral Sclerosis; Movement Disorders; Degenerative Disorder; Motor Neuron Disease

Keywords

Amyotrophic Lateral Sclerosis; ALS Amyotrophic Lateral Sclerosis; Target ALS; Longitudinal Biofluids; Barrow Neurological Institute; New York Genome Center; Biofluids Biorepository; Genomic-wide association studies; observational study; Biofluid Samples

Outcome Measures

Primary Outcomes (1)

• Biofluid Biorepository

  This project will create a biorepository of longitudinal biofluid samples, linked to clinical measures, and at home measures

  + 3.5 Years

Study Arms (2)

Amyotrophic Lateral Sclerosis ALS

This is a global, multi-center study of ALS participants and healthy controls that will have up to 20 sites globally. Target enrollment will be approximately 1000 participants with 800 ALS participants and 200 healthy control cases. Research participants with suspected, possible, probable, probable- laboratory supported, and definite Amyotrophic Lateral Sclerosis (ALS), according to the revised El Escorial Criteria (EEC) or with a diagnosis based on the Gold Coast Criteria will be seen at the Screening/Baseline Visit(s) (Visit 1) and follow-up will occur at approximate 4-month internals for up to 5 visits per participant.

Healthy

Healthy control participants will have a neurological exam to confirm non-neurologic disease status and participants will have one follow up visit approximately 12 months after their baseline visit. Upon consenting for participation, all study participants will undergo the activities and biofluid collections at each visit.

Eligibility Criteria

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

Study Population

A biorepository of longitudinal blood (plasma and serum), cerebral spinal fluid (CSF) and urine linked to genetics and longitudinal clinical information that are made available to the research community will be made from ALS and healthy control participants. This is a large multi-center study, including several international sites with the goal of developing a robust sample set from genetic and racially diverse populations. To enable well-powered biomarker research, the enrollment goal is at least 800 ALS patients and 200 healthy participants in five years.

ALS Participants: 1. Age 18 or older. 2. A diagnosis of ALS in accordance with Gold Coast criteria. 3. Full Vital Capacity (FVC) of ≥30% or at the discretion of the Principal Investigator for the participant's predicted value for gender, height, and age at the time of screening. 4. Ability to provide informed consent and understand the purpose and risks of the study. 5. Ability to comply with study procedures and assessments, in the opinion of the Principal Investigator. Healthy Control Participants: 1. Age 18 or older. 2. No history of neurological disease, in the opinion of the Principal Investigator. 3. No known ALS- associated genetic mutations at the time of consent. 4. Ability to provide informed consent and understand the purpose and risks of the study. 5. Ability to comply with study procedures and assessments, in the opinion of the Principal Investigator.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• Target ALS Foundation, Inc.: lead

Study Sites (12)

Barrow Neurological Institute

Phoenix, Arizona, 85013, United States

RECRUITING

University of California San Diego

San Diego, California, 92121, United States

RECRUITING

Georgetown University

Georgetown, District of Columbia, 20007, United States

RECRUITING

Mayo Clinic

Jacksonville, Florida, 32224, United States

RECRUITING

Northwestern University

Chicago, Illinois, 60611, United States

RECRUITING

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

RECRUITING

Washington University

St Louis, Missouri, 63110, United States

RECRUITING

Columbia University

New York, New York, 10032, United States

RECRUITING

Baylor College of Medicine

Houston, Texas, 77030, United States

RECRUITING

University of Washington

Seattle, Washington, 98195, United States

RECRUITING

Instituto Roosevelt

Bogotá, Colombia

RECRUITING

CHALS-CCT UPR MScience

San Juan, 00935, Puerto Rico

RECRUITING

Related Publications (9)

• Chipika RH, Finegan E, Li Hi Shing S, Hardiman O, Bede P. Tracking a Fast-Moving Disease: Longitudinal Markers, Monitoring, and Clinical Trial Endpoints in ALS. Front Neurol. 2019 Mar 19;10:229. doi: 10.3389/fneur.2019.00229. eCollection 2019.

  PMID: 30941088 BACKGROUND

• Benatar M, Wuu J, Lombardi V, Jeromin A, Bowser R, Andersen PM, Malaspina A. Neurofilaments in pre-symptomatic ALS and the impact of genotype. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(7-8):538-548. doi: 10.1080/21678421.2019.1646769. Epub 2019 Aug 21.

  PMID: 31432691 BACKGROUND

• Huang F, Zhu Y, Hsiao-Nakamoto J, Tang X, Dugas JC, Moscovitch-Lopatin M, Glass JD, Brown RH Jr, Ladha SS, Lacomis D, Harris JM, Scearce-Levie K, Ho C, Bowser R, Berry JD. Longitudinal biomarkers in amyotrophic lateral sclerosis. Ann Clin Transl Neurol. 2020 Jul;7(7):1103-1116. doi: 10.1002/acn3.51078. Epub 2020 Jun 9.

  PMID: 32515902 BACKGROUND

• Tam OH, Rozhkov NV, Shaw R, Kim D, Hubbard I, Fennessey S, Propp N; NYGC ALS Consortium; Fagegaltier D, Harris BT, Ostrow LW, Phatnani H, Ravits J, Dubnau J, Gale Hammell M. Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia. Cell Rep. 2019 Oct 29;29(5):1164-1177.e5. doi: 10.1016/j.celrep.2019.09.066.

  PMID: 31665631 BACKGROUND

• Vieira H, Costa N, Sousa T, Reis S, Coelho L. Voice-Based Classification of Amyotrophic Lateral Sclerosis: Where Are We and Where Are We Going? A Systematic Review. Neurodegener Dis. 2019;19(5-6):163-170. doi: 10.1159/000506259. Epub 2020 Mar 3.

  PMID: 32126556 BACKGROUND

• Barnett C, Green JR, Marzouqah R, Stipancic KL, Berry JD, Korngut L, Genge A, Shoesmith C, Briemberg H, Abrahao A, Kalra S, Zinman L, Yunusova Y. Reliability and validity of speech & pause measures during passage reading in ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Feb;21(1-2):42-50. doi: 10.1080/21678421.2019.1697888. Epub 2019 Dec 6.

  PMID: 32138555 BACKGROUND

• Rutkove SB, Narayanaswami P, Berisha V, Liss J, Hahn S, Shelton K, Qi K, Pandeya S, Shefner JM. Improved ALS clinical trials through frequent at-home self-assessment: a proof of concept study. Ann Clin Transl Neurol. 2020 Jul;7(7):1148-1157. doi: 10.1002/acn3.51096. Epub 2020 Jun 9.

  PMID: 32515889 BACKGROUND

• Quinn C, Macklin EA, Atassi N, Bowser R, Boylan K, Cudkowicz M, Fournier C, Ladha SS, Lacomis D, Berry J. Post-lumbar puncture headache is reduced with use of atraumatic needles in ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):632-4. doi: 10.3109/21678421.2013.808227. Epub 2013 Jul 8. No abstract available.

  PMID: 23834161 BACKGROUND

• Schievink WI. Spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension. JAMA. 2006 May 17;295(19):2286-96. doi: 10.1001/jama.295.19.2286.

  PMID: 16705110 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Participating sites will label and freeze up to two blood tubes collected from each study participant for DNA extraction and analysis. DNA extraction and sequencing will be performed at the New York Genome Center (NYGC), Psomagen, or another central lab that Target ALS partners with. DNA may be stored, used in genome-wide association studies (GWAS), whole genome sequencing, exome sequencing, or for any other known or as yet undiscovered DNA analysis applicable to understanding or targeting disease, with a particular emphasis on ALS. The information from these genetic studies may be made available to collaborators in academia, not-for-profit settings, or industry for appropriate research. Results of DNA testing from this study will not go into the participant's medical record.

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis; Movement Disorders; Motor Neuron Disease

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

Study Officials

• Laura Dugom, MPH

  Target ALS Foundation, Inc.

  STUDY DIRECTOR

• Amy Easton, PhD

  Target ALS Foundation, Inc.

  STUDY DIRECTOR

Central Study Contacts

Laura Dugom, MPH

CONTACT

919-440-2073; laura.dugom@targetals.org

Robert Bowser, PhD

CONTACT

602-406-8989; robert.bowser@dignityhealth.org

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 16, 2021
• First Posted: November 30, 2021
• Study Start: June 1, 2021
• Primary Completion (Estimated): December 31, 2031
• Study Completion (Estimated): December 31, 2031
• Last Updated: November 21, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR
• Time Frame: Greater than 5+ Years
• Access Criteria: Access available using published manuscripts and stored biofluids using LIMS.

Locations

PR (1); US (10); CO (1)