Natural History Study - Mitochondrial Disease

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2004-07-31

Study Completion Date

2026-07-31

Brief Summary

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Carriers of the m.3242A\>G mutation often have clinical symptoms which 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. The focus of the current work is to evaluate known mutation carriers of the m.3243A\>G (mitochondrial DNA) and their maternal relatives (carrier status not a requirement for participation). Paternal relatives will serve as controls. This study involves no treatment.

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Detailed Description

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The purpose of this study is to investigate the neurological and biochemical consequences of the m.3243 A\>G mutation. 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/urine tests, neurological exam, MRI/MRS, questionnaires, motor skills functioning, serum and urine biomarkers, and genetic testing.

Conditions

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MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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mtDNA mutation

m.3243 A\>G carriers and their maternal relatives Other mutations in the mitochondrial genome may be included

No interventions assigned to this group

Control

controls (people not maternally related to mutation carriers) Preference is for married in relatives

No interventions assigned to this group

Eligibility Criteria

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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