Active — Not RecruitingNot Applicable

Phenotype, Genotype and Biomarkers 2

United States, South Africa217 participantsStarted 2021-01-08

Plain-language 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.

Who can participate

Age range

7 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Rates of change in revised ALS functional rating scale (ALSFRS-R)

Timeframe: 48 months

Rates of change in Slow vital capacity (SVC)

Timeframe: 48 months

Rates of change in Spastic paraplegia rating scale (SPRS)

Timeframe: 48 months

Rates of change in Edinburgh Cognitive and Behavioral ALS Screen (ECAS)

Timeframe: 48 months

ALS Health Index (ALS-HI)

Timeframe: 48 months

Serum

Timeframe: 48 months

Cerebrospinal Fluid (CSF)

Timeframe: 48 months

Trial details

NCT IDNCT04875416

SponsorUniversity of Miami

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2031-09

View on ClinicalTrials.gov More Amyotrophic Lateral Sclerosis trials

Plain-language summary

Who can participate

Age range

7 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Rates of change in revised ALS functional rating scale (ALSFRS-R)

Timeframe: 48 months

Rates of change in Slow vital capacity (SVC)

Timeframe: 48 months

Rates of change in Spastic paraplegia rating scale (SPRS)

Timeframe: 48 months

Rates of change in Edinburgh Cognitive and Behavioral ALS Screen (ECAS)

Timeframe: 48 months

ALS Health Index (ALS-HI)

Timeframe: 48 months

Serum

Timeframe: 48 months

Cerebrospinal Fluid (CSF)

Timeframe: 48 months