Amyotrophic Lateral SclerosisPGB2NCT04875416
Phenotype, Genotype and Biomarkers 2
An observational study of Amyotrophic Lateral Sclerosis and Hereditary Spastic Paraplegia, run by University of Miami at 4 sites in 2 countries.
Trial 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). Read more about this study
- Who is it for?
- Ages 7 years and olderHealthy volunteers can take part
- Conditions the study is for
- Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis
- How many people
- 217 participants
- Where
- 4 sitesin 2 countries
- Study dates
- 8 Jan 2021to Sep 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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
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
Trial locations and contacts
4 sites in 2 countries.
4 sites in 2 countries
United States3 sites
University of Kansas Medical Center
Kansas City, Kansas, 66160
University of Miami
Miami, Florida, 33136
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
About this study
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.
- Conditions
- Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy, Frontotemporal Dementia
- Keywords
- ALS, PLS, PMA, HSP, FTD, MSP
- Medical subject headings
- Amyotrophic Lateral Sclerosis, Spastic Paraplegia, Hereditary, Motor Neuron Disease, Muscular Atrophy, Spinal, Frontotemporal Dementia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Rates of change in revised ALS functional rating scale (ALSFRS-R)
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
Measured: 48 months
Rates of change in Slow vital capacity (SVC)
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
Measured: 48 months
Rates of change in Spastic paraplegia rating scale (SPRS)
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
Measured: 48 months
Rates of change in Edinburgh Cognitive and Behavioral ALS Screen (ECAS)
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
Measured: 48 months
ALS Health Index (ALS-HI)
Validate the ALS Health Index (ALS-HI), a novel patient reported outcome (PRO) measure
Measured: 48 months
Serum
Determine the diagnostic utility of serum neurofilament concentrations
Measured: 48 months
Cerebrospinal Fluid (CSF)
Determine the diagnostic utility of CSF neurofilament concentrations
Measured: 48 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 May 2021
- Study start8 Jan 2021
- Primary completionSep 2031 (estimated)
- Study completionSep 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Amyotrophic Lateral SclerosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 217 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Miami
- Sponsor type
- University, hospital or other
- Collaborators
- National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS)
- Responsible party
- Principal investigator, Michael Benatar, University of Miami
- Investigators
- Michael Benatar, MD, PhD, Principal investigator, University of Miami
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04875416
- Sponsor's protocol ID
- 20200888
- Other IDs
- U54NS092091
- Acronym
- PGB2
- Status last verified
- Jun 2026
- First submitted
- 14 Apr 2021
- Last updated
- 15 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotype, Genotype and Biomarkers 2
- ClinicalTrials.gov ID
- NCT04875416
- Acronym / sponsor ID
- PGB2 / 20200888
- Conditions
- Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy, Frontotemporal Dementia
- Keywords
- ALS, PLS, PMA, HSP, FTD, MSP
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 217 participants (actual)
- Lead sponsor
- University of MiamiUniversity, hospital or other
- Collaborators
- National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- 8 Jan 2021 (actual)
- Primary completion
- Sep 2031 (estimated)
- Study completion
- Sep 2031 (estimated)
- First posted
- 6 May 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 7 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Jun 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Michael Benatar, MD, PhD principal investigator
University of Miami
4 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Amyotrophic Lateral Sclerosis and Hereditary Spastic Paraplegia, run by University of Miami at 4 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 15 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, South Africa. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Rates of change in revised ALS functional rating scale (ALSFRS-R) (time frame: 48 months). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Jun 2026.