ALS Research Collaborative (ARC)

ALS Translational Research Program

The goal of this natural history study is to learn more about the biological and clinical aspects of amyotrophic lateral sclerosis (ALS). This study's findings will help with drug discovery, biomarker discovery, and outcome measure validation. Adults living with ALS, other motor neuron diseases (MND), a known mutation related to ALS and healthy volunteers contribute prospective and retrospective data to this study remotely. The study is sponsored and conducted by the ALS Therapy Development Institute.

Study Overview

• Status: Recruiting
• Conditions: ALS (Amyotrophic Lateral Sclerosis); Motor Neuron Disease; Amyotrophic Lateral Sclerosis; Motor Neuron Disease, Amyotrophic Lateral Sclerosis; ALS with Frontotemporal Dementia (ALS/FTD)

• Study Type: Observational
• Enrollment (Estimated): 2000

Contacts and Locations

• Study Contact: Name: Alan S Premasiri, M.S.; Phone Number: 7291 617-441-7200; Email: apremasiri@als.net
• Study Contact Backup: Name: Beth Levine; Phone Number: 617-441-7200; Email: blevine@als.net

Study Locations

• United States
  • Massachusetts
    • Watertown, Massachusetts, United States, 02472
      • Recruiting
      • ALS Therapy Development Institute
      • Contact: Alan S Premasiri, M.S.; Phone Number: 7291 6174417200; Email: apremasiri@als.net
      • Contact: Fernando G Vieira, M.D.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Participants can be located anywhere but require internet access.

Description

Inclusion Criteria:

• 18 years of age or older
• Can communicate in written English
• Has a diagnosis of ALS/MND or is a known carrier of an ALS associated mutation

Exclusion Criteria:

• Significant cognitive impairment that would prevent individual completion and understanding of the informed consent process.

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
Person living with ALS/MND; An adult over the age of 18, that has received a diagnosis of ALS or other Motor Neuron Disease from a practicing physician.
Asymptomatic gene carrier; An adult over the age of 18 who does not have symptoms of ALS and carries a mutation known to be associated with ALS
Healthy Volunteer; An adult over the age of 18 who does not have any biological connection to ALS or other Motor Neuron Disease, and no significant health problems.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
ALS Functional Rating Scale - Revised (ALSFRS-R)	A questionnaire completed by the participant that assesses 12 daily functions of living on a 0 (severe symptoms) to 4 (minimal to no symptoms) integer scale.	Monthly, through study completion, an average of 1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Machine-Learning Based Speech Scoring	Participants submit a scripted voice recording of 5 different, short phrases that are then scored by a machine-learning based algorithm that assess dysarthria on a non-integer scale of 0 (fully impaired) to 4 (normal speech)	Monthly, through study completion, an average of 1 year
Limb-based Accelerometry	Participants wear four, ActiGraph devices on each limb. Passive and active (video-directed) wear time data is collected over one week. The devices measure acceleration and represent the strength of each limb during movement. Outputs include activity counts and raw acceleration data.	monthly, through study completion, an average of 6 months
Medications, Supplements, and Clinical Trial Participation Surveys	Participants complete questionnaires describing usage information about medications and supplements they have taken and are currently taking, as well as clinical trial participation.	quarterly, through study completion, an average of 1 year
Social and Environmental Surveys	Participants complete questionnaires about their familial, educational, and geographical background, as well as lifestyle habits and past medical conditions and injuries. These are non-current factors that may have an affect on current health outcomes.	One-time or quarterly at months 1, 4, 7, 10

Collaborators and Investigators

• Sponsor: ALS Therapy Development Institute
• Investigators: Principal Investigator: Fernando G Vieira, M.D., ALS Therapy Development Institute

Publications and helpful links

General Publications

• Straczkiewicz M, Burke KM, Calcagno N, Premasiri A, Vieira FG, Onnela JP, Berry JD. Free-living monitoring of ALS progression in upper limbs using wearable accelerometers. J Neuroeng Rehabil. 2024 Dec 21;21(1):223. doi: 10.1186/s12984-024-01514-7.
• Gupta AS, Patel S, Premasiri A, Vieira F. At-home wearables and machine learning sensitively capture disease progression in amyotrophic lateral sclerosis. Nat Commun. 2023 Aug 21;14(1):5080. doi: 10.1038/s41467-023-40917-3.
• Vieira FG, Venugopalan S, Premasiri AS, McNally M, Jansen A, McCloskey K, Brenner MP, Perrin S. A machine-learning based objective measure for ALS disease severity. NPJ Digit Med. 2022 Apr 8;5(1):45. doi: 10.1038/s41746-022-00588-8.

Helpful Links

• ARC Sign Up Page
• ARC Data Commons Inquiry Page - for researcher access to ARC data

Study record dates

Study Major Dates

• Study Start (Actual): September 12, 2014
• Primary Completion (Estimated): January 31, 2035
• Study Completion (Estimated): January 31, 2035

Study Registration Dates

• First Submitted: February 27, 2025
• First Submitted That Met QC Criteria: March 13, 2025
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: March 13, 2025
• Last Verified: March 1, 2025

More Information

Terms related to this study

• Keywords: ARC; ALS Research Collaborative; ALS TDI; ALS Therapy Develeopment Institute
• Additional Relevant MeSH Terms: Neurologic Manifestations; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Mental Disorders; Pathologic Processes; Neuromuscular Diseases; Metabolic Diseases; Neurobehavioral Manifestations; Neurocognitive Disorders; Dementia; Neurodegenerative Diseases; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Communication Disorders; Language Disorders; Aphasia; Speech Disorders; Frontotemporal Lobar Degeneration; Sclerosis; Motor Neuron Disease; Amyotrophic Lateral Sclerosis; Frontotemporal Dementia; Aphasia, Primary Progressive; Pick Disease of the Brain
• Other Study ID Numbers: ALSTDI0103

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No