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Phenotype, Genotype and Biomarkers 2 (PGB2)

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ClinicalTrials.gov Identifier: NCT04875416
Recruitment Status : Recruiting
First Posted : May 6, 2021
Last Update Posted : May 6, 2021
Sponsor:
Collaborators:
National Institutes of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Michael Benatar, University of Miami

Brief Summary:
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). More precisely, the investigator wants to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). The investigator also wants to identify biomarkers of ALS and related diseases.

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

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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Phenotype, Genotype and Biomarkers 2
Actual Study Start Date : January 8, 2021
Estimated Primary Completion Date : June 2024
Estimated Study Completion Date : June 2024


Group/Cohort
Primary participants
Patients that have or are suspected to have ALS or a related neurodegenerative disease
Secondary Participants
Family members of primary participants enrolled in the study



Primary Outcome Measures :
  1. Rates of change in revised ALS functional rating scale (ALSFRS-R) [ Time Frame: 48 months ]
    Prepare motor outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease

  2. Rates of change in Slow vital capacity (SVC) [ Time Frame: 48 months ]
    Prepare motor outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease

  3. Rates of change in Spastic paraplegia rating scale (SPRS) [ Time Frame: 48 months ]
    Prepare cognitive and behavioral outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease

  4. Rates of change in Edinburgh Cognitive and Behavioral ALS Screen (ECAS) [ Time Frame: 48 months ]
    Prepare cognitive and behavioral outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease

  5. ALS Health Index (ALS-HI) [ Time Frame: 48 months ]
    Validate the ALS Health Index (ALS-HI), a novel patient reported outcome (PRO) measure

  6. Serum [ Time Frame: 48 months ]
    Determine the diagnostic utility of serum neurofilament concentrations

  7. Cerebrospinal Fluid (CSF) [ Time Frame: 48 months ]
    Determine the diagnostic utility of CSF neurofilament concentrations


Biospecimen Retention:   Samples With DNA
Blood, Urine and CSF


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Ages Eligible for Study:   7 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Primary participants - patients that have or are suspected to have ALS or a related disease.

Secondary participants - family members of primary participants enrolled in the study

Criteria

Inclusion Criteria for affected individuals (primary participants) include:

  • Clinical diagnosis or suspicion of ALS or a related disorder, including, but not limited to, ALS-FTD, PLS, HSP, FTD, Multisystem Proteinopathy (MSP) and PMA.
  • Subject is able and willing to comply with study procedures

Exclusion Criteria for affected individuals (primary participants) include:

  • Subjects with a condition or who are in a 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 -- including but not limited to neurological, psychological and/or medical conditions

Inclusion criteria for biological family members (secondary participants) include:

  • Family member of an enrolled affected primary participant

Exclusion Criteria for biological family members (secondary participants) include:

  • Subjects with a condition or who are in a 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 -- including but 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 ClinicalTrials.gov identifier (NCT number): NCT04875416


Contacts
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Contact: Michael Benatar, MD, PhD 1-844-837-1031 projectcreate@miami.edu

Locations
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United States, Florida
University of Miami Recruiting
Miami, Florida, United States, 33136
Contact: Jessica Hernandez    305-243-2345    jph93@miami.edu   
Principal Investigator: Michael Benatar, MD, PhD         
United States, Kansas
University of Kansas Medical Center Not yet recruiting
Kansas City, Kansas, United States, 66160
Contact: Collin Gerringer    913-748-5701    cgerringer@kumc.edu   
Principal Investigator: Jeffrey Statland, MD         
United States, Pennsylvania
University of Pennsylvania Not yet recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Luis Rosario    215-898-3081    luis.rosario@pennmedicine.upenn.edu   
Principal Investigator: Corey McMillan, PhD         
South Africa
University of Cape Town Not yet recruiting
Cape Town, South Africa
Contact: Jeannine Heckmann, MD    +27 (021) 404-3198    jeanine.heckmann@uct.ac.za   
Principal Investigator: Jeannine Heckmann, MD         
Sponsors and Collaborators
University of Miami
National Institutes of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
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Principal Investigator: Michael Benatar, MD, PhD University of Miami
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Responsible Party: Michael Benatar, Professor, University of Miami
ClinicalTrials.gov Identifier: NCT04875416    
Other Study ID Numbers: 20200888
U54NS092091 ( U.S. NIH Grant/Contract )
First Posted: May 6, 2021    Key Record Dates
Last Update Posted: May 6, 2021
Last Verified: April 2021
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:
ALS
PLS
PMA
HSP
FTD
MSP
Additional relevant MeSH terms:
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Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Muscular Atrophy
Frontotemporal Dementia
Aphasia, Primary Progressive
Pick Disease of the Brain
Paraplegia
Spastic Paraplegia, Hereditary
Muscular Atrophy, Spinal
Sclerosis
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