This is the classic website, which will be retired eventually. Please visit the modernized instead.
Working… Menu

Phenotype, Genotype & Biomarkers in ALS and Related Disorders

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02327845
Recruitment Status : Enrolling by invitation
First Posted : December 30, 2014
Last Update Posted : August 29, 2023
National Institute of Neurological Disorders and Stroke (NINDS)
National Center for Advancing Translational Sciences (NCATS)
St. Jude Children's Research Hospital
ALS Association
Information provided by (Responsible Party):
Michael Benatar, University of Miami

Brief Summary:
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.

Condition or disease
Amyotrophic Lateral Sclerosis Frontotemporal Dementia Primary Lateral Sclerosis Hereditary Spastic Paraplegia Progressive Muscular Atrophy Multisystem Proteinopathy

Detailed 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.

Layout table for study information
Study Type : Observational
Estimated Enrollment : 700 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Phenotype, Genotype & Biomarkers in ALS and Related Disorders
Study Start Date : April 2015
Estimated Primary Completion Date : July 2025
Estimated Study Completion Date : July 2025

Affected with any of the diseases that are the focus of study by the CReATe Consortium, including ALS, ALS-FTD, HSP, PLS, PMA and MSP.
Unaffected family members of enrolled affected individuals.

Primary Outcome Measures :
  1. Phenotypic correlates of genotype [ Time Frame: 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.

  2. Genetic determinants of phenotype [ Time Frame: 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.

Other Outcome Measures:
  1. Biomarkers [ Time Frame: 24 months ]
    Biomarkers relevant to therapeutic development

Biospecimen Retention:   Samples With DNA
DNA, serum, urine and CSF

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients with ALS or a related neurodegenerative disorder, including FTD, HSP, PLS, PMA and MSP. Select family members of affected participants.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02327845

Layout table for location information
United States, California
Stanford University
Palo Alto, California, United States, 94304
University of California San Diego (UCSD)
San Diego, California, United States, 92093
California Pacific Medical Center (CPMC)
San Francisco, California, United States, 94115
United States, Florida
University of Miami
Miami, Florida, United States, 33136
United States, Iowa
University of Iowa
Iowa City, Iowa, United States, 52242
United States, Kansas
Kansas University Medical Center (KUMC)
Kansas City, Kansas, United States, 66160
United States, Minnesota
Twin Cities ALS Research Consortium
Minneapolis, Minnesota, United States, 55415
United States, North Carolina
Wake Forest University
Winston-Salem, North Carolina, United States, 27157
United States, Ohio
Cleveland Clinic
Cleveland, Ohio, United States, 44195
United States, Pennsylvania
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104
United States, Texas
University of Texas Southwestern (UTSW)
Dallas, Texas, United States, 75390
University of Texas Health Science Center San Antonio (UTHSCSA)
San Antonio, Texas, United States, 78229
United States, Virginia
University of Virginia (UVA)
Charlottesville, Virginia, United States, 22908
Eberhard Karls University of Tübingen
Tübingen, Germany
South Africa
University of Cape Town
Cape Town, South Africa
Sponsors and Collaborators
University of Miami
National Institute of Neurological Disorders and Stroke (NINDS)
National Center for Advancing Translational Sciences (NCATS)
St. Jude Children's Research Hospital
ALS Association
Layout table for investigator information
Principal Investigator: Michael Benatar, DPhil University of Miami
Layout table for additonal information
Responsible Party: Michael Benatar, Chief of the Neuromuscular Division, Professor of Neurology, University of Miami Identifier: NCT02327845    
Other Study ID Numbers: 20160603
U54NS092091 ( U.S. NIH Grant/Contract )
First Posted: December 30, 2014    Key Record Dates
Last Update Posted: August 29, 2023
Last Verified: August 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Michael Benatar, University of Miami:
natural history, biomarkers, phenotype, genotype
Additional relevant MeSH terms:
Layout table for MeSH terms
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Muscular Atrophy
Frontotemporal Dementia
Aphasia, Primary Progressive
Pick Disease of the Brain
Spastic Paraplegia, Hereditary
Muscular Atrophy, Spinal
Pathologic Processes
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Pathological Conditions, Anatomical
Neurodegenerative Diseases
Neuromuscular Diseases
Spinal Cord Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases
Neuromuscular Manifestations
Neurologic Manifestations
Frontotemporal Lobar Degeneration
Speech Disorders