Last updated on January 2019

Phenotype Genotype & Biomarkers in ALS and Related Disorders


Brief description of study

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.

Detailed Study Description

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.

Clinical Study Identifier: NCT02327845

Contact Investigators or Research Sites near you

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John Day, MD

Stanford University
Palo Alto, CA United States
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John Ravits, MD

University of California San Diego (UCSD)
San Diego, CA United States
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Jonathan Katz, MD

California Pacific Medical Center (CPMC)
San Francisco, CA United States
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Michael Benatar, MBChB, MS, DPhil

University of Miami
Miami, FL United States
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Andrea Swenson, MD

University of Iowa
Iowa City, IA United States
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Richard Barohn, MD

Kansas University Medical Center (KUMC)
Kansas City, KS United States
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David Walk, MD

Twin Cities ALS Research Consortium
Minneapolis, MN United States
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James Caress, MD

Wake Forest University
Winston-Salem, NC United States
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Erik Pioro, MD

Cleveland Clinic
Cleveland, OH United States
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Corey McMillan, Ph.D

University of Pennsylvania
Philadelphia, PA United States
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Jaya Trivedi, MD

University of Texas Southwestern (UTSW)
Dallas, TX United States
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Carlayne Jackson, MD

University of Texas Health Science Center San Antonio (UTHSCSA)
San Antonio, TX United States
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Ted Burns, MD

University of Virginia (UVA)
Charlottesville, VA United States
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Sanjay Kalra, MD

University of Alberta
Edmonton, Canada
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Rebecca Schule, MD

Eberhard Karls University of T bingen
Tübingen, Germany
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Jeannine Heckmann, MD

University of Cape Town
Cape Town, South Africa
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Recruitment Status: Open


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