Clinical trial NCT04875416: Phenotype, Genotype and Biomarkers 2
Official title: Phenotype, Genotype and Biomarkers 2
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Amyotrophic Lateral Sclerosis
Hereditary Spastic Paraplegia
Primary Lateral Sclerosis
Progressive Muscular Atrophy
Frontotemporal Dementia
Keywords: ALS
PLS
PMA
HSP
FTD
MSP
Lead sponsor: University of Miami
Sponsor class: OTHER
Collaborators: name: National Institutes of Health (NIH)
name: National Institute of Neurological Disorders and Stroke (NINDS)
First posted: 2021-05-06
Enrollment: 300
Sex: ALL
Minimum age (years): 7
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Primary participants - patients that have or are suspected to have ALS or a related disease.

Secondary participants - family members of primary participants enrolled in the study

Brief summary: The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). More precisely, the investigator wants to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). The investigator also wants to identify biomarkers of ALS and related diseases.


Eligibility criteria: Inclusion Criteria for affected individuals (primary participants) include:

* Clinical diagnosis or suspicion of ALS or a related disorder, including, but not limited to, ALS-FTD, PLS, HSP, FTD, Multisystem Proteinopathy (MSP) and PMA.
* Subject is able and willing to comply with study procedures

Exclusion Criteria for affected individuals (primary participants) include:

* Subjects with a condition or who are in a 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 -- including but not limited to neurological, psychological and/or medical conditions

Inclusion criteria for biological family members (secondary participants) include:

* Family member of an enrolled affected primary participant

Exclusion Criteria for biological family members (secondary participants) include:

* Subjects with a condition or who are in a 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 -- including but not limited to neurological, psychological and/or medical conditions

Primary outcomes:
measure: Rates of change in revised ALS functional rating scale (ALSFRS-R)
timeFrame: 48 months
measure: Rates of change in Slow vital capacity (SVC)
timeFrame: 48 months
measure: Rates of change in Spastic paraplegia rating scale (SPRS)
timeFrame: 48 months
measure: Rates of change in Edinburgh Cognitive and Behavioral ALS Screen (ECAS)
timeFrame: 48 months
measure: ALS Health Index (ALS-HI)
timeFrame: 48 months
measure: Serum
timeFrame: 48 months
measure: Cerebrospinal Fluid (CSF)
timeFrame: 48 months
Secondary outcomes:
Other outcomes:
Locations:
city: Miami
country: United States
facility: University of Miami
state: Florida
city: Kansas City
country: United States
facility: University of Kansas Medical Center
state: Kansas
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
city: Cape Town
country: South Africa
facility: University of Cape Town
Study officials:
affiliation: University of Miami
name: Michael Benatar, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: