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Phenotype, Genotype & Biomarkers in ALS and Related Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2016 by Michael Benatar, 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
Information provided by (Responsible Party):
Michael Benatar, University of Miami Identifier:
First received: December 24, 2014
Last updated: November 15, 2016
Last verified: November 2016
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.

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

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Phenotype, Genotype & Biomarkers in ALS and Related Disorders

Resource links provided by NLM:

Further study details as provided by Michael Benatar, University of Miami:

Primary Outcome Measures:
  • 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.

  • 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:
  • Biomarkers [ Time Frame: 24 months ]
    Biomarkers relevant to therapeutic development

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

Estimated Enrollment: 700
Study Start Date: April 2015
Estimated Study Completion Date: August 2019
Estimated Primary Completion Date: August 2019 (Final data collection date for primary outcome measure)
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.

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.

Ages Eligible for Study:   Child, Adult, Senior
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.
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02327845

Contact: Michael Benatar, MBChB, MS, DPhil 305-243-4015
Contact: Sumaira Hussain 1-844-837-1031

United States, California
Stanford University Not yet recruiting
Palo Alto, California, United States, 94304
Contact: John W Day, MD, PhD         
University of California San Diego (UCSD) Recruiting
San Diego, California, United States, 92093
Principal Investigator: John Ravits, MD         
California Pacific Medical Center (CPMC) Recruiting
San Francisco, California, United States, 94115
Principal Investigator: Jonathan Katz, MD         
United States, Florida
University of Miami Recruiting
Miami, Florida, United States, 33136
Contact: Sumaira Hussain    1-844-837-1031   
Principal Investigator: Michael Benatar, MBChB, MS, DPhil         
United States, Iowa
University of Iowa Recruiting
Iowa City, Iowa, United States, 52242
Principal Investigator: Andrea Swenson, MD         
United States, Kansas
Kansas University Medical Center (KUMC) Recruiting
Kansas City, Kansas, United States, 66160
Principal Investigator: Richard Barohn, MD         
United States, Minnesota
Minneapolis Medical Research Foundation Not yet recruiting
Minneapolis, Minnesota, United States, 55415
Contact: Samuel Maiser, MD         
United States, North Carolina
Wake Forest University Recruiting
Winston-Salem, North Carolina, United States, 27157
Principal Investigator: James Caress, MD         
United States, Ohio
Cleveland Clinic Recruiting
Cleveland, Ohio, United States, 44195
Principal Investigator: Erik Pioro, MD         
United States, Texas
University of Texas Southwestern (UTSW) Recruiting
Dallas, Texas, United States, 75390
Principal Investigator: Jaya Trivedi, MD         
University of Texas Health Science Center San Antonio (UTHSCSA) Recruiting
San Antonio, Texas, United States, 78229
Principal Investigator: Carlayne Jackson, MD         
United States, Virginia
University of Virginia (UVA) Recruiting
Charlottesville, Virginia, United States, 22908
Principal Investigator: Ted Burns, MD         
University of Alberta Not yet recruiting
Alberta, Canada
Contact: Sanjay Kalra, MD, FRCPC         
Eberhard Karls University of Tübingen Not yet recruiting
Tübingen, Germany
Principal Investigator: Rebecca Schule, MD         
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
  More Information

Responsible Party: Michael Benatar, Chief of the Neuromuscular Division, Professor of Neurology, University of Miami Identifier: NCT02327845     History of Changes
Other Study ID Numbers: U54NS092091 ( US NIH Grant/Contract Award Number )
Study First Received: December 24, 2014
Last Updated: November 15, 2016

Keywords provided by Michael Benatar, University of Miami:
natural history, biomarkers, phenotype, genotype

Additional relevant 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
Signs and Symptoms
Frontotemporal Lobar Degeneration processed this record on May 25, 2017