Genetic and Blood Biomarkers in Neurological and Neuromuscular Diseases

Study Overview
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Brief Summary
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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
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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.

Official Title
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Genetic and Blood Biomarkers in Subjects With Neurological and Neuromuscular Diseases

Conditions
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Neurological Disorders, Neuromuscular Disorders

Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Minimum Age: 1 Year
Maximum Age: 90 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Recognizing possible pathogenic mutation in specific genes | Genetic test by collection of blood including whole exome sequencing and targeted gene sequencing | 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Abnormal protein and enzyme structure and function that may explain a particular disease or syndrome | Using epidermal nerve fiber density testing in skin biopsy | 2 years |