Genetic and Blood Biomarkers in Neurological and Neuromuscular Diseases (Neurogenetic)

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.

Study Overview

• Status: Completed
• Conditions: Neurological Disorders; Neuromuscular Disorders

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.

• Study Type: Observational
• Enrollment (Actual): 20

Contacts and Locations

Study Locations

• United States
  • Missouri
    • Saint Louis, Missouri, United States, 63104
      • Saint Louis University Department of Neurology

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 90 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Up to 350 study subjects per year will be recruited from neurology and neuromuscular clinics and inpatient services of St. Louis University and Cardinal Glennon Hospital.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: St. Louis University
• Investigators: Study Chair: Sean Goretzke, MD, St. Louis University

Study record dates

Study Major Dates

• Study Start: December 1, 2015
• Primary Completion (Actual): October 16, 2018
• Study Completion (Actual): October 17, 2018

Study Registration Dates

• First Submitted: April 7, 2016
• First Submitted That Met QC Criteria: May 19, 2016
• First Posted (Estimate): May 23, 2016

Study Record Updates

• Last Update Posted (Actual): December 26, 2018
• Last Update Submitted That Met QC Criteria: December 21, 2018
• Last Verified: December 1, 2018

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease; Nervous System Diseases; Neuromuscular Diseases
• Other Study ID Numbers: 25726

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO