Natural History Study - Mitochondrial Disease

Therapuetic Areas:Neurology
Age Range:4 - Any
Start Date:July 2004
End Date:January 2022
Contact:Kris Engelstad, MS

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Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations

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. 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.

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/urine tests, neurological exam, MRI/MRS, questionnaires, motor skills functioning
and genetic testing.

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.
We found this trial at
New York City, New York 10032
Phone: 212-305-6834
New York City, NY
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