Genetic and Blood Biomarkers in Neurological and Neuromuscular Diseases
| Status: | Completed |
|---|---|
| Conditions: | Neurology, Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 1 - 90 |
| Updated: | 12/27/2018 |
| Start Date: | December 2015 |
| End Date: | October 17, 2018 |
Genetic and Blood Biomarkers in Subjects With Neurological and Neuromuscular Diseases
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.
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.
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.
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.
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.
We found this trial at
1
site
1438 South Grand Boulevard
Saint Louis, Missouri 63104
Saint Louis, Missouri 63104
Phone: 314-977-4914
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