Phenotype, Genotype & Biomarkers in ALS and Related Disorders

N/AEnrolling By InvitationNCT02327845

University of Miami700 enrolled

Overview

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.

This study will recruit patients with ALS, ALS-FTD, PLS, HSP, and PMA, with a focus on incident cases. Patients with both familial and sporadic forms of these diseases will be enrolled and followed longitudinally using a standardized set of evaluations. Biological samples (blood, urine, CSF) will be collected from all study participants, and will be used for biomarker discovery and validation. Family members of affected individuals may also be enrolled and asked to contribute DNA and biological samples to aid genetic and biomarker discovery.

Study Type

OBSERVATIONAL

Enrollment

700

Conditions

Amyotrophic Lateral Sclerosis Frontotemporal Dementia Primary Lateral Sclerosis Hereditary Spastic Paraplegia Progressive Muscular Atrophy

Eligibility

Sex: ALLHealthy volunteers:

Medical Language ↔ Plain English

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.

Locations (15)

Stanford University

Palo Alto, California, United States

University of California San Diego (UCSD)

San Diego, California, United States

California Pacific Medical Center (CPMC)

San Francisco, California, United States

University of Miami

Miami, Florida, United States

University of Iowa

Iowa City, Iowa, United States

Kansas University Medical Center (KUMC)

Kansas City, Kansas, United States

Twin Cities ALS Research Consortium

Minneapolis, Minnesota, United States

Wake Forest University

Winston-Salem, North Carolina, United States

Cleveland Clinic

Cleveland, Ohio, United States

University of Pennsylvania

Philadelphia, Pennsylvania, United States

...and 5 more locations

Outcomes

Primary Outcomes

Phenotypic correlates of genotype

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.

Time frame: 24 months

Genetic determinants of phenotype

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.

Time frame: 24 months