Observing the effects of a specific mitochondrial DNA mutation over time
Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations
This study looks at how a specific mitochondrial DNA mutation affects people and their family members over time, focusing on symptoms like migraines and seizures.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | 4 Years and up |
| Sex | All |
| Sponsor | Columbia University Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT01532791 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on individuals who are carriers of the m.3243A>G mitochondrial DNA mutation and their maternal relatives, as well as paternal relatives serving as controls. The aim is to monitor and evaluate the neurological and biochemical consequences of this mutation, which can lead to various clinical symptoms such as migraines, seizures, and hearing loss. Participants will undergo a series of assessments including blood and urine tests, neurological exams, MRIs, and questionnaires to gather comprehensive data on their conditions. The findings will help enhance understanding of the mutation's impact and inform future treatment development.
Who should consider this trial
Good fit: Ideal candidates include known carriers of the m.3243A>G mutation and their maternal relatives, as well as paternal relatives who are not carriers.
Not a fit: Patients who are younger than 4 years old or do not have a confirmed m.3243A>G mitochondrial DNA mutation in their family may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of mitochondrial diseases, potentially guiding future therapeutic strategies.
How similar studies have performed: While this study is observational and does not involve treatment, similar studies on mitochondrial mutations have provided valuable insights into the conditions associated with these genetic changes.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: Known carrier of a the m.3243 A\>G mitochondrial mutation, ,or Maternally related to someone who carries the m.3243A\>G mitochondrial mutation. A family member who is not maternally related to someone who carries the m.3243A\>G mitochondrial mutation Exclusion Criteria: * Younger than 4 years of age * No confirmed m.3243 A\>G mitochondrial DNA mutation in the family.
Where this trial is running
New York, New York
- Columbia University — New York, New York, United States (Recruiting)
Study contacts
- Principal investigator: Michio Hirano, MD — mh29@cumc.columbia.edu
- Study coordinator: Kris Engelstad, MS
- Email: ke4@cumc.columbia.edu
- Phone: 2123056834
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.