- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01803906
Tissue Sample Study for Mitochondrial Disorders
Tissue Study for Mitochondrial Disorders
Study Overview
Status
Detailed Description
Presently, the investigators know of about 200 mitochondrial disorders. The investigators know that there are about 1,300 genes responsible for mitochondrial function. Thus, there are a lot of mutated genes to be discovered out there. Currently, most patients with suspected or known mitochondrial disorders do not have genetic confirmation of the disease.
The goal of this project is to perform biochemical and DNA analysis on tissue samples of patients with mitochondrial disorders to find new genes that might be involved in mitochondrial dysfunction.
Leftover patient tissue samples will be obtained for analysis from within the Columbia Presbyterian Medical Center. Left over patient samples may also be sent from outside the institution. This is not a "first-step" in the diagnostic process, but rather an option for evaluation in patient samples for which no known diagnosis or genetic confirmation has been made.
The research laboratory does not guarantee that a sample will be analyzed. Sample analysis is performed according to research interest. If they choose, patients can be contacted should laboratory findings provide insight into their disease.
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Locations
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New York
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New York, New York, United States, 10032
- Columbia University
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- Patients suspected of having a mitochondrial disorder
- Patients who may carry a genetic mutation or be related to someone with a genetic mutation which may cause a mitochondrial disorder
Exclusion Criteria:
- Patients who are not suspected of having a mitochondrial disorder
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
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Mitochondrial disease
Patients with known or suspected DNA mutations that affect mitochondrial function.
Patients with suspected mitochondrial disorders
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Number of patients with reduced respiratory chain enzyme levels
Time Frame: Up to 2 years
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Biochemical studies involving mitochondrial function.
The levels will be compared to normal levels.
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Up to 2 years
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Number of new genetic mutations
Time Frame: Up to 2 years
|
Evaluation of potential genetic interaction in clinical signs and symptoms.
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Up to 2 years
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Collaborators and Investigators
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Pathologic Processes
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Genetic Diseases, Inborn
- Carbohydrate Metabolism, Inborn Errors
- Metabolism, Inborn Errors
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Pyruvate Metabolism, Inborn Errors
- Mitochondrial Diseases
- Disease
- Leigh Disease
Other Study ID Numbers
- AAAB5754
- P01HD032062 (U.S. NIH Grant/Contract)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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