Understanding genetic and observable traits in neurodegenerative diseases
Phenotype, Genotype and Biomarkers 2
This study is trying to see how the symptoms and genetic information of people with ALS and similar diseases are connected, while also looking for possible markers that could help us understand these conditions better.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | 7 Years and up |
| Sex | All |
| Sponsor | University of Miami Academic / other |
| Locations | 4 sites (Miami, Florida and 3 other locations) |
| Trial ID | NCT04875416 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore the connections between the observable symptoms (phenotype) and genetic information (genotype) in patients with amyotrophic lateral sclerosis (ALS) and related neurodegenerative conditions such as frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), and progressive muscular atrophy (PMA). The study will also focus on identifying potential biomarkers associated with these diseases. Participants will include individuals diagnosed with these conditions and their biological family members, allowing for a comprehensive analysis of genetic and phenotypic data.
Who should consider this trial
Good fit: Ideal candidates include individuals with a clinical diagnosis or suspicion of ALS or related disorders.
Not a fit: Patients with confounding neurological, psychological, or medical conditions may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of neurodegenerative diseases, potentially leading to improved diagnostics and targeted therapies.
How similar studies have performed: Other studies have shown promise in linking genotype and phenotype in neurodegenerative diseases, suggesting a potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Miami, Florida and 3 other locations
- University of Miami — Miami, Florida, United States (Recruiting)
- University of Kansas Medical Center — Kansas City, Kansas, United States (Recruiting)
- University of Pennsylvania — Philadelphia, Pennsylvania, United States (Recruiting)
- University of Cape Town — Cape Town, South Africa (Recruiting)
Study contacts
- Principal investigator: Michael Benatar, MD, PhD — University of Miami
- Study coordinator: Michael Benatar, MD, PhD
- Email: projectcreate@miami.edu
- Phone: 1-844-837-1031
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.