Neurological DisordersNeurogeneticNCT02780531
Genetic and Blood Biomarkers in Neurological and Neuromuscular Diseases
An observational study of Neurological Disorders and Neuromuscular Disorders, run by St. Louis University at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages 1 year to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Neurological Disorders, Neuromuscular Disorders
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- Dec 2015to 17 Oct 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 90 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- Subjects will be individuals with neurologic or neuromuscular disease who are deemed well-enough for sample collection.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Saint Louis University Department of Neurology
St Louis, Missouri, 63104
About this study
Official title: 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.
Read the 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.
- Conditions
- Neurological Disorders, Neuromuscular Disorders
- Medical subject headings
- Nervous System Diseases, Neuromuscular Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Recognizing possible pathogenic mutation in specific genes
Genetic test by collection of blood including whole exome sequencing and targeted gene sequencing
Measured: 2 years
Secondary outcomes (1)
Abnormal protein and enzyme structure and function that may explain a particular disease or syndrome
Using epidermal nerve fiber density testing in skin biopsy
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 May 2016 (estimated)
- Study startDec 2015
- Primary completion16 Oct 2018
- Study completion17 Oct 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurological DisordersStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- St. Louis University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Jafar Kafaie, MD, St. Louis University
- Investigators
- Sean Goretzke, MD, Study chair, St. Louis University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02780531
- Sponsor's protocol ID
- 25726
- Acronym
- Neurogenetic
- Status last verified
- Dec 2018
- First submitted
- 7 Apr 2016
- Last updated
- 26 Dec 2018
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Dec 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic and Blood Biomarkers in Subjects With Neurological and Neuromuscular Diseases
- ClinicalTrials.gov ID
- NCT02780531
- Acronym / sponsor ID
- Neurogenetic / 25726
- Conditions
- Neurological Disorders, Neuromuscular Disorders
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- St. Louis UniversityUniversity, hospital or other
- Study start
- Dec 2015
- Primary completion
- 16 Oct 2018 (actual)
- Study completion
- 17 Oct 2018 (actual)
- First posted
- 23 May 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 year to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (1 listed)
- Subjects will be individuals with neurologic or neuromuscular disease who are deemed well-enough for sample collection.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
1 secondary outcome
Abnormal protein and enzyme structure and function that may explain a particular disease or syndrome
Time frame: 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Dec 2018.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Sean Goretzke, MD study chair
St. Louis University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurological Disorders and Neuromuscular Disorders, run by St. Louis University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 26 Dec 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Recognizing possible pathogenic mutation in specific genes (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Dec 2018.