Genetic and Blood Biomarkers in Neurological and Neuromuscular Diseases

NCT02780531 | Completed

• 1 other identifier: 25726
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Neurological Disorders; Neuromuscular Disorders

Outcome Measures

Primary Outcomes (1)

• Recognizing possible pathogenic mutation in specific genes

  Genetic test by collection of blood including whole exome sequencing and targeted gene sequencing

  2 years

Secondary Outcomes (1)

• Abnormal protein and enzyme structure and function that may explain a particular disease or syndrome

  2 years

Eligibility Criteria

• Age: 1 Year - 90 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Subjects will be individuals with neurologic or neuromuscular disease who are deemed well-enough for sample collection.

You may not qualify if:

• 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.

Sponsors & Collaborators

• St. Louis University: lead

Study Sites (1)

Saint Louis University Department of Neurology

St Louis, Missouri, 63104, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood: Blood is the preferred sample to be collected as it yields the broadest number of components to be studied, including deoxyribonucleic acid ("DNA"), ribonucleic acid ("RNA"), protein \& lymphocytes (approximately 10 milliliters). These may be immediately utilized or frozen -80C for future research. Other tissues: In some circumstances, a subject may have undergone or will undergo a clinical procedure yielding bodily tissues or fluids (e.g. a muscle, tumor biopsy, spinal tap). If this is the case, nucleic acids (DNA \& RNA) and proteins can be extracted for study. Furthermore, there may be rare cases where comparisons between blood DNA \& tissue DNA/RNA is needed (e.g. a mutation identified is predicted to affected splicing which can only be verified by studying the RNA from tissues).

MeSH Terms

Conditions

Nervous System Diseases; Neuromuscular Diseases

Study Officials

• Sean Goretzke, MD

  St. Louis University

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: April 7, 2016
• First Posted: May 23, 2016
• Study Start: December 1, 2015
• Primary Completion: October 16, 2018
• Study Completion: October 17, 2018
• Last Updated: December 26, 2018

Record last verified: 2018-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)