Genetic and Blood Biomarkers in Subjects With Neurological and Neuromuscular Diseases
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Neurological Disorders
- Sponsor
- St. Louis University
- Enrollment
- 20
- Locations
- 1
- Primary Endpoint
- Recognizing possible pathogenic mutation in specific genes
- Status
- Completed
- Last Updated
- 7 years ago
Overview
Brief Summary
The purpose of this study is to identify genetic or other factors in the subjects blood that may predispose them to getting a particular disease or tell researchers how the disease will behave, for example how fast it will progress or what areas of the body might be affected. A second goal is to relate such factors to how such a condition affects the subjects clinically as well as how it affects the electrical functions of nerves and muscles.
Detailed Description
The etiology of many neurological and neuromuscular disorders is largely unknown. Contributions likely come from both inherited and environmental factors. Amyotrophic lateral sclerosis ("ALS") is a prototypical example. In 5-10% of cases, genetic mutations exert a strong enough influence on disease development that the syndrome is transmitted in a clearly Mendelian fashion. Investigations in these "familial" ALS cases have identified more than 20 causative disease genes. Intensive study of these genes has helped identify several key cellular pathways as important for disease, not only in cases with obvious gene mutations, but even in the 90% of ALS cases that appear to be "sporadic." Further insights have come from investigating blood biomarkers in ALS such as gene and protein expression and lymphocyte profiling. It is hoped that further genetic and biomarker analysis will identify additional genetic risk factors or biomarkers to better understand the disease and improve therapeutic development. These advances can be applied not just to ALS but to the broad range of neurological and neuromuscular diseases, including Charcot Marie Tooth neuropathy, the muscular dystrophies, epilepsies, Parkinson's disease, and Alzheimer's disease.
Investigators
Jafar Kafaie, MD
Assistant Professor
St. Louis University
Eligibility Criteria
Inclusion Criteria
- •Subjects will be individuals with neurologic or neuromuscular disease who are deemed well-enough for sample collection.
Exclusion Criteria
- •Subjects who are not willing to undergo sample collection, genetic analysis, or unwilling to share clinical information or their samples.
- •Pregnant women will also be excluded.
Outcomes
Primary Outcomes
Recognizing possible pathogenic mutation in specific genes
Time Frame: 2 years
Genetic test by collection of blood including whole exome sequencing and targeted gene sequencing
Secondary Outcomes
- Abnormal protein and enzyme structure and function that may explain a particular disease or syndrome(2 years)