Natural History Study - Mitochondrial Disease
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Purpose
Patients with mitochondrial disorders often have clinical symptoms. This can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms. The investigators would like to learn more about these disorders and have designed a "Natural History Study" to monitor these conditions over time so that physicians and scientists can not only understand the problems that patients have, but work on developing treatments. This study involves no treatment.
| Condition |
|---|
|
Mitochondrial DNA Mutation |
| Study Type: | Observational |
| Study Design: | Observational Model: Case Control Time Perspective: Prospective |
| Official Title: | Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations |
skin fibroblast blood urine buccal cells hair samples
| Estimated Enrollment: | 300 |
| Study Start Date: | July 2004 |
| Estimated Study Completion Date: | January 2018 |
| Estimated Primary Completion Date: | January 2018 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
mtDNA mutation
controls patients carriers, or potential carriers of mtDNA mutation
|
| Control |
Detailed Description:
The purpose of this study is to investigate the neurological consequences of mutations in mitochondrial DNA, and the synthesis of energy. Mitochondria are the powerhouses of the cell and are controlled by nuclear genetic material (DNA) and mitochondrial (mt) DNA. Mitochondrial DNA mutations impair mitochondrial function, and cause cellular energy failure. These mutations, when present in high abundance, cause neurological signs and symptoms that are clinically obvious. The investigators hypothesize that these mutations, when present in lesser abundance, will cause measurable alterations in the patient's neuropsychological profile and cerebral energy profile. This study does not involve any experimental or approved therapy. The investigators will evaluate the patient's condition with blood tests, neurological exam, and genetic testing.
Eligibility| Ages Eligible for Study: | 6 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
All patients who have a documented mtDNA point mutation. These mutations are genetically determined and transmitted through the maternal lineage. Therefore, we will focus on family clusters and concentrate on the maternal relatives including the mother and all siblings. We shall evaluate all patients suspected of having an mtDNA point mutation regardless of age, health status, gender, race, or ethnicity. The minimal age of entry into the study will be 6 years or older. We will also evaluate controls, or people do do not carry a mitochondrial mutation and are generally family members, not maternally related to a mtDNA mutation carrier
Inclusion Criteria:
- Control (generally a non maternally related relative)
- carrier of a mitochondrial DNA mutation, or
- maternally related to someone with a mitochondrial DNA mutation.
Exclusion Criteria:
- Younger than 6 years of age
- No confirmed mtDNA mutation in family
Contacts and Locations| Contact: Kris Engelstad, MS | 2123056834 | ke4@columbia.edu |
| Contact: Darryl De Vivo, MD | 2123055244 | melas@columbia.edu |
| United States, New York | |
| Columbia University | Recruiting |
| New York City, New York, United States, 10032 | |
| Contact: Kris Engelstad, MS 212-305-6834 ke4@columbia.edu | |
| Principal Investigator: | Darryl De Vivo, MD | dcd1@columbia.edu |
More Information
Additional Information:
No publications provided
| Responsible Party: | Columbia University |
| ClinicalTrials.gov Identifier: | NCT01532791 History of Changes |
| Other Study ID Numbers: | AAAB1425, 5P01HD032062 |
| Study First Received: | February 10, 2012 |
| Last Updated: | November 2, 2012 |
| Health Authority: | United States: Institutional Review Board |
Keywords provided by Columbia University:
|
MELAS MERRF NARP mitochondrial DNA mutation |
mtDNA mutation mitochondrial DNA mitochondria |
Additional relevant MeSH terms:
|
Mitochondrial Encephalomyopathies Mitochondrial Diseases Mitochondrial Myopathies Muscular Diseases Musculoskeletal Diseases Brain Diseases, Metabolic |
Brain Diseases Central Nervous System Diseases Nervous System Diseases Neuromuscular Diseases Metabolic Diseases |
ClinicalTrials.gov processed this record on May 23, 2013