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

See Contacts and Locations

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

Study Description

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

Study Design

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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

Resource links provided by the National Library of Medicine

Genetic and Rare Diseases Information Center resources: Amyotrophic Lateral Sclerosis Spinal Muscular Atrophy Paraplegia Frontotemporal Dementia Frontotemporal Dementia, Ubiquitin-positive Primary Progressive Aphasia Semantic Dementia Primary Lateral Sclerosis Hereditary Spastic Paraplegia Infantile-onset Ascending Hereditary Spastic Paralysis Behavioral Variant of Frontotemporal Dementia Charcot-Marie-Tooth Disease Hereditary Neuropathy With Liability to Pressure Palsies Roussy Levy Syndrome

U.S. FDA Resources

Groups and Cohorts

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

Outcome Measures

Primary Outcome Measures :

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
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
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
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
ALS Health Index (ALS-HI) [ Time Frame: 48 months ]
Validate the ALS Health Index (ALS-HI), a novel patient reported outcome (PRO) measure
Serum [ Time Frame: 48 months ]
Determine the diagnostic utility of serum neurofilament concentrations
Cerebrospinal Fluid (CSF) [ Time Frame: 48 months ]
Determine the diagnostic utility of CSF neurofilament concentrations

Biospecimen Retention: Samples With DNA

Blood, Urine and CSF

Eligibility Criteria

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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

Contacts and Locations

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

More Information

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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

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