Phenotype, Genotype and Biomarkers 2

Launched by UNIVERSITY OF MIAMI · Apr 30, 2021

Keywords

ClinConnect Summary

The "Phenotype, Genotype and Biomarkers 2" study is focused on understanding more about amyotrophic lateral sclerosis (ALS) and other related neurological diseases like frontotemporal dementia (FTD) and hereditary spastic paraplegia (HSP). Researchers want to explore how the visible symptoms of these diseases (called phenotype) connect to the genetic information (genotype) of the individuals affected. They are also looking for specific biological markers (biomarkers) that could help in diagnosing and treating these conditions.

If you or a loved one has been diagnosed with ALS or one of the related disorders, you may be eligible to participate in this study. Participants should be willing and able to follow the study procedures. Family members of individuals taking part in the study are also welcome to join. Throughout the study, participants can expect to provide information about their health and may undergo various assessments. It’s important to note that certain medical or psychological conditions might prevent someone from joining the study, so discussing eligibility with the study team is essential.

Gender

ALL

Eligibility 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