The goals of this study are: (1) to better understand the relationship between the phenotype and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA), and frontotemporal dementia (FTD); and (2) to develop biomarkers that might be useful in aiding therapy development for this group of disorders.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
Accepted
Inclusion Criteria:
* Member of at least one of the following categories:
1. Individuals with a clinical diagnosis of ALS or a related disorder, including FTD, HSP, PLS, PMA and MSP (sporadic or familial).
2. Family member of an enrolled affected individual.
* Able and willing to comply with relevant procedures.
Exclusion Criteria:
* Affected with end or late stage disease.
* A condition or 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. This includes (but is not limited to) neurological, psychological and/or medical conditions.
Primary outcome measure(s)
Phenotypic correlates of genotype — 24 months Using longitudinally collected deep phenotypic data, this project aims to define the natural history (i.e. temporal rate of disease progression) of the motor and frontotemporal system (behavior, cognition and language) phenotypes of ALS and related disorders in patients with identifiable genetic mutations.
Genetic determinants of phenotype — 24 months By combining longitudinally collected deep phenotypic data with deep genetic data (e.g. whole exome or whole genome sequencing), this project aims to define genetic variants that are associated with identifiable phenotypic features in patients with ALS and related disorders.
Trial sites (15)
Facility
City
Region
Status
Stanford University
Palo Alto
California
University of California San Diego (UCSD)
San Diego
California
California Pacific Medical Center (CPMC)
San Francisco
California
University of Miami
Miami
Florida
University of Iowa
Iowa City
Iowa
Kansas University Medical Center (KUMC)
Kansas City
Kansas
Twin Cities ALS Research Consortium
Minneapolis
Minnesota
Wake Forest University
Winston-Salem
North Carolina
Cleveland Clinic
Cleveland
Ohio
University of Pennsylvania
Philadelphia
Pennsylvania
University of Texas Southwestern (UTSW)
Dallas
Texas
University of Texas Health Science Center San Antonio (UTHSCSA)
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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