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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02780531
Recruitment Status : Completed
First Posted : May 23, 2016
Last Update Posted : December 26, 2018
Information provided by (Responsible Party):
Jafar Kafaie, MD, St. Louis University

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.

Condition or disease
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.

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Study Type : Observational
Actual Enrollment : 20 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic and Blood Biomarkers in Subjects With Neurological and Neuromuscular Diseases
Study Start Date : December 2015
Actual Primary Completion Date : October 16, 2018
Actual Study Completion Date : October 17, 2018

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Recognizing possible pathogenic mutation in specific genes [ Time Frame: 2 years ]
    Genetic test by collection of blood including whole exome sequencing and targeted gene sequencing

Secondary Outcome Measures :
  1. Abnormal protein and enzyme structure and function that may explain a particular disease or syndrome [ Time Frame: 2 years ]
    Using epidermal nerve fiber density testing in skin biopsy

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).

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   1 Year to 90 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02780531

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United States, Missouri
Saint Louis University Department of Neurology
Saint Louis, Missouri, United States, 63104
Sponsors and Collaborators
St. Louis University
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Study Chair: Sean Goretzke, MD St. Louis University
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Responsible Party: Jafar Kafaie, MD, Assistant Professor, St. Louis University Identifier: NCT02780531    
Other Study ID Numbers: 25726
First Posted: May 23, 2016    Key Record Dates
Last Update Posted: December 26, 2018
Last Verified: December 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Additional relevant MeSH terms:
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Neuromuscular Diseases
Nervous System Diseases
Pathologic Processes