Genetic and Blood Biomarkers in Neurological and Neuromuscular Diseases

Neurological Disorders Clinical Trial

— Neurogenetic  

Official title:

Genetic and Blood Biomarkers in Subjects With Neurological and Neuromuscular Diseases

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02780531
• Other study ID #: 25726
• Status: Completed
• Start date: December 2015
• Est. completion date: October 17, 2018

Study information

• Verified date: December 2018
• Source: St. Louis University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 20
• Est. completion date: October 17, 2018
• Est. primary completion date: October 16, 2018
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 1 Year to 90 Years

Eligibility

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.

Related Conditions & MeSH terms

• Disease
• Nervous System Diseases
• Neurological Disorders
• Neuromuscular Diseases
• Neuromuscular Disorders

Locations

Country	Name	City	State
United States	Saint Louis University Department of Neurology	Saint Louis	Missouri

Sponsors (1)

Lead Sponsor	Collaborator
St. Louis University

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Recognizing possible pathogenic mutation in specific genes	Genetic test by collection of blood including whole exome sequencing and targeted gene sequencing	2 years
Secondary	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