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Trial record 1 of 1 for:    phenotype, genotype biomarkers in als | ALS (Amyotrophic Lateral Sclerosis)
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Phenotype, Genotype & Biomarkers in ALS and Related Disorders

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ClinicalTrials.gov Identifier: NCT02327845
Recruitment Status : Recruiting
First Posted : December 30, 2014
Last Update Posted : September 14, 2020
Sponsor:
Collaborators:
National Institute of Neurological Disorders and Stroke (NINDS)
National Center for Advancing Translational Science (NCATS)
St. Jude Children's Research Hospital
ALS Association
Information provided by (Responsible Party):
Michael Benatar, University of Miami

Study Description
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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.
Study Design
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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 : June 2021
Estimated Study Completion Date : June 2021

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
Affected
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
Unaffected family members of enrolled affected individuals.


Outcome Measures
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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

Eligibility Criteria
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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.
Criteria

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.
Contacts and Locations
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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 ClinicalTrials.gov identifier (NCT number): NCT02327845


Contacts
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Contact: Michael Benatar, DPhil 305-243-4015
Contact: Sumaira Hussain 1-844-837-1031 projectcreate@med.miami.edu

Locations
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United States, California
Stanford University Active, not recruiting
Palo Alto, California, United States, 94304
University of California San Diego (UCSD) Active, not recruiting
San Diego, California, United States, 92093
California Pacific Medical Center (CPMC) Active, not recruiting
San Francisco, California, United States, 94115
United States, Florida
University of Miami Recruiting
Miami, Florida, United States, 33136
Contact: Jessica Hernandez    305-243-2345    projectcreate@miami.edu   
Principal Investigator: Michael Benatar, MBChB, MS, DPhil         
United States, Iowa
University of Iowa Active, not recruiting
Iowa City, Iowa, United States, 52242
United States, Kansas
Kansas University Medical Center (KUMC) Recruiting
Kansas City, Kansas, United States, 66160
Contact: Collin Gerringer    913-748-5701    cgerringer@kumc.edu   
Principal Investigator: Jeffrey Statland, MD         
United States, Minnesota
Twin Cities ALS Research Consortium Active, not recruiting
Minneapolis, Minnesota, United States, 55415
United States, North Carolina
Wake Forest University Active, not recruiting
Winston-Salem, North Carolina, United States, 27157
United States, Ohio
Cleveland Clinic Completed
Cleveland, Ohio, United States, 44195
United States, Pennsylvania
University of Pennsylvania Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Luis Rosario    215-898-3081    luis.rosario@pennmedicine.upenn.edu   
Principal Investigator: Corey McMillan, Ph.D         
United States, Texas
University of Texas Southwestern (UTSW) Completed
Dallas, Texas, United States, 75390
University of Texas Health Science Center San Antonio (UTHSCSA) Active, not recruiting
San Antonio, Texas, United States, 78229
United States, Virginia
University of Virginia (UVA) Completed
Charlottesville, Virginia, United States, 22908
Germany
Eberhard Karls University of Tübingen Active, not recruiting
Tübingen, Germany
South Africa
University of Cape Town Active, not recruiting
Cape Town, South Africa
Sponsors and Collaborators
University of Miami
National Institute of Neurological Disorders and Stroke (NINDS)
National Center for Advancing Translational Science (NCATS)
St. Jude Children's Research Hospital
ALS Association
Investigators
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Principal Investigator: Michael Benatar, DPhil University of Miami
More Information
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Responsible Party: Michael Benatar, Chief of the Neuromuscular Division, Professor of Neurology, University of Miami
ClinicalTrials.gov Identifier: NCT02327845    
Other Study ID Numbers: 20160603
U54NS092091 ( U.S. NIH Grant/Contract )
First Posted: December 30, 2014    Key Record Dates
Last Update Posted: September 14, 2020
Last Verified: September 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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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:
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Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Sclerosis
Muscular Atrophy
Frontotemporal Dementia
Aphasia, Primary Progressive
Pick Disease of the Brain
Paraplegia
Spastic Paraplegia, Hereditary
Muscular Atrophy, Spinal
Pathologic Processes
Dementia
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
 Neurocognitive Disorders
Mental Disorders
Atrophy
Pathological Conditions, Anatomical
Neurodegenerative Diseases
Neuromuscular Diseases
Spinal Cord Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases
Neuromuscular Manifestations
Neurologic Manifestations
Frontotemporal Lobar Degeneration
Aphasia
Speech Disorders