Genetic and Blood Biomarkers in Neurological and Neuromuscular Diseases

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-12-31

Study Completion Date

2018-10-17

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.

Conditions

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Neurological Disorders Neuromuscular Disorders

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

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.

Minimum Eligible Age

1 Year

Maximum Eligible Age

90 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Responsible Party

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Jafar Kafaie, MD

Assistant Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Sean Goretzke, MD

Role: STUDY_CHAIR

St. Louis University

Locations

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Saint Louis University Department of Neurology

St Louis, Missouri, United States

Site Status

Countries

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United States

Other Identifiers

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25726

Identifier Type: -

Identifier Source: org_study_id