Clinical trial NCT06581861: PREVENT ALL ALS Study
Official title: PREVENT ALL ALS - Longitudinal Biomarker Study for Participants Who Are Genetically at Risk for Amyotrophic Lateral Sclerosis (ALS)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Amyotrophic Lateral Sclerosis
Keywords: ALS
Amyotrophic Lateral Sclerosis
Biomarker
Observational
at-risk
Lead sponsor: St. Joseph's Hospital and Medical Center, Phoenix
Sponsor class: OTHER
Collaborators: name: Massachusetts General Hospital
name: National Institute of Neurological Disorders and Stroke (NINDS)
name: Foundation for the National Institutes of Health
First posted: 2024-09-03
Enrollment: 600
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Approximately 600 participants are planned for this study enrolled. They are aged 18 years or older, and are at risk of developing ALS.

Brief summary: The ALL ALS Clinical Research Consortium is establishing research to collect a wide range of samples, clinical information and measurements from Amyotrophic Lateral Sclerosis (ALS) symptomatic, ALS gene carriers and control cohorts. This consortium is begin funded by the National Institutes of Health/National Institute of Neurological Disorders and Stroke (NIH/NINDS) and managed by two clinical coordinating centers (CCC) at Barrow Neurological Institute and Massachusetts General Hospital. The clinical sites are distributed across the country, and led by a group of collaborative principal investigators. Once data and samples are collected and harmonized, it will be made available to research community for future research into ALS and related neurological diseases.

PREVENT protocol is specific for asymptomatic participants who are genetically at risk for ALS. The participants will be followed for up to 36 months (3 years), and will include 4 in-person on-site visits once a year and 6 off-site(remote) visits once in 4 months. The study includes collection of medical history, clinical outcomes, and blood samples once in 4 months. Additionally, the participants will complete patient reported outcomes and speech recordings once in 4 months. Participants may also provide optional Cerebrospinal Fluid (CSF) samples.The participants may also opt into a sub-study if they are interested in genetic testing for ALS causative genes. The sub-study will involve a minimum of 3 visits over a course of 2-3 months. This will include a screening/pre-test genetic counseling visit, a return of genetic results and a post-test counseling visit.


Eligibility criteria: Inclusion Criteria:

1. Age 18 years or older
2. Capable of providing informed consent
3. Willing to follow study procedures
4. First-degree relative of a known carrier of any ALS causative gene1 (regardless of whether ALS or FTD has actually been symptomatic in the family) OR First-degree relative of an individual with ALS and/or FTD in a family with a "compelling family history" of ALS/FTD, regardless of whether genetic testing has occurred in symptomatic family members. A "compelling family history" is defined as a pedigree with at least 2 close relatives who had ALS or FTD, with at least one of those family members having had ALS.
5. Access to a smartphone, computer, or tablet, and internet (need not be in the home - access to a public library or other available computer with internet connection is sufficient)

Exclusion Criteria:

1. Evidence of neurological signs or symptoms concerning for ALS of FTD, at the discretion of the site investigator which will be communicated to the applicant along with referral for appropriate clinical follow-up.
2. Significant cognitive impairment, clinical dementia, or unstable psychiatric illness, including psychosis, active suicidal ideation, suicide attempt, or untreated major depression \<= 90 days (about 3 months) of screening, which in the opinion of the Investigator would interfere with the study procedures
3. Clinically significant, unstable medical condition (e.g., cardiovascular instability, systemic infection, untreated thyroid dysfunction, malignant and potentially progressive cancer) that would render the participant unlikely to be able to complete 12 months of follow-up, according to Investigator's judgment

Exclusion Criteria for Participants Undergoing Optional Lumbar Puncture

1. Medically unable to undergo lumbar puncture (LP) as determined by the site investigator (i.e., bleeding disorder, a skin infection at or near the LP site, known or suspected intracranial or intraspinal tumor or other cause of increased intracranial pressure).
2. Allergy to Lidocaine or other local anesthetic agents.
3. Use of anticoagulant medication or antiplatelet medications (aside from aspirin 81 mg) that cannot be safely withheld prior to lumbar puncture.
4. Blood dyscrasia, abnormal bleeding diathesis, or the use of dialysis for renal failure.
5. Current pregnancy based on participant self-report
6. Clinical judgement of the site investigator that the participant would be unable to undergo multiple lumbar punctures.

Inclusion Criteria for Genetic Testing Results Sub-study

1. Age 18 years of age or older
2. Capable of providing informed consent
3. Willing to follow study procedures
4. Currently enrolled in the PREVENT ALS Study

Primary outcomes:
measure: ALS Symptoms Questionnaire
timeFrame: Baseline, 4, 8, 12,16,20, 24, 28, 32 and 36 months form baseline
Secondary outcomes:
measure: Environmental History
timeFrame: Once at Month 1 from Baseline
measure: Cognitive assessment (ECAS)
timeFrame: at Baseline, 12, 24 and 36 months from baseline
measure: Cognitive assessment (CDR-FTLD)
timeFrame: at Baseline, 12, 24 and 36 months from baseline
measure: Hand-Held Dynamometry (HHD)
timeFrame: at Baseline, 12, 24 and 36 months from baseline
measure: Digital Speech Assessment
timeFrame: at Baseline, and at months 4,8,12,16,20,24,28,32 and 36 months
measure: Vital Capacity (VC)
timeFrame: at Baseline, 12, 24 and 36 months from baseline
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama Birmingham
state: Alabama
city: Phoenix
country: United States
facility: Barrow Neurological Institute
state: Arizona
city: La Jolla
country: United States
facility: University of California San Diego
state: California
city: Orange
country: United States
facility: University of California Irvine
state: California
city: San Francisco
country: United States
facility: University of California, San Francisco
state: California
city: Aurora
country: United States
facility: University of Colorado Anschutz Medical Campus
state: Colorado
city: New Britain
country: United States
facility: Hospital for Special Care
state: Connecticut
city: Washington
country: United States
facility: Georgetown University
state: District of Columbia
city: Jacksonville
country: United States
facility: Mayo Clinic
state: Florida
city: Boise
country: United States
facility: Saint Alphonsus Regional Medical Center
state: Idaho
city: Chicago
country: United States
facility: Northwestern University
state: Illinois
city: Indianapolis
country: United States
facility: Indiana University
state: Indiana
city: Baltimore
country: United States
facility: John Hopkins University
state: Maryland
city: Bethesda
country: United States
facility: Nih/Ninds
state: Maryland
city: Boston
country: United States
facility: Massachusetts General Brigham
state: Massachusetts
city: Ann Arbor
country: United States
facility: University of Michigan
state: Michigan
city: Detroit
country: United States
facility: Henry Ford Health
state: Michigan
city: Minneapolis
country: United States
facility: University of Minnesota
state: Minnesota
city: Saint Louis
country: United States
facility: Washington University
state: Missouri
city: Omaha
country: United States
facility: University of Nebraska Medical Center
state: Nebraska
city: Lebanon
country: United States
facility: Dartmouth Hitchcock Medical Center
state: New Hampshire
city: New York
country: United States
facility: Columbia University
state: New York
city: Durham
country: United States
facility: Duke University
state: North Carolina
city: Columbus
country: United States
facility: Ohio State University
state: Ohio
city: Portland
country: United States
facility: Providence ALS Center
state: Oregon
city: Hershey
country: United States
facility: Penn State Health
state: Pennsylvania
city: Philadelphia
country: United States
facility: Temple University
state: Pennsylvania
city: Dallas
country: United States
facility: Texas Neurology
state: Texas
city: Salt Lake City
country: United States
facility: University of Utah
state: Utah
city: Richmond
country: United States
facility: Virginia Commonwealth University
state: Virginia
city: Seattle
country: United States
facility: University of Washington
state: Washington
city: San Juan
country: Puerto Rico
facility: CHALS-CCT, University of Puerto Rico, Medical Sciences Campus
Study officials:
References: