Amyotrophic Lateral Sclerosis
Conditions
Keywords
ALS, Amyotrophic Lateral Sclerosis, Biomarker, Observational, at-risk
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.
Interventions
None listed
Sponsors
St. Joseph's Hospital and Medical Center, Phoenix
Massachusetts General Hospital
National Institute of Neurological Disorders and Stroke (NINDS)
Foundation for the National Institutes of Health
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| ALS Symptoms Questionnaire | Baseline, 4, 8, 12,16,20, 24, 28, 32 and 36 months form baseline | Questions to identify development of symptoms related to ALS |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Environmental History | Once at Month 1 from Baseline | Questionnaires completed by participants that includes questions about non-medical factors that affect health outcomes |
| Cognitive assessment (ECAS) | at Baseline, 12, 24 and 36 months from baseline | ECAS is a multi-domain assessment administered by study staff, to evaluate different aspects of cognitive function |
| Cognitive assessment (CDR-FTLD) | at Baseline, 12, 24 and 36 months from baseline | CDR-FTLD is a global assessment scale that evaluates severity of impairment across multiple domains in patients with Frontotemporal dementia (FTLD) spectrum disorders. |
| Hand-Held Dynamometry (HHD) | at Baseline, 12, 24 and 36 months from baseline | HHD is used as a quantitative measure of muscle strength. This will involve testing of the bilateral deltoid, biceps, triceps, wrist extension, FDI, ADM, APB, hip extension, quadriceps, hamstring, TA and grip strength. |
| Digital Speech Assessment | at Baseline, and at months 4,8,12,16,20,24,28,32 and 36 months | Participants will be asked to record voice samples at home once a month using a digital application installed on their device. |
| Vital Capacity (VC) | at Baseline, 12, 24 and 36 months from baseline | It is the change in respiratory function over time as measured by Slow Vital Capacity (SVC). |
Countries
Puerto Rico, United States
Contacts
CONTACTALL ALS Patient Navigator
Outcome results
None listed