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NCT Number: NCT01532791

Natural History Study - Mitochondrial Disease

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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Key information

Conditions

MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn MELAS Syndrome Metabolic Diseases Metabolism, Inborn Errors Mitochondrial Diseases Mitochondrial Encephalomyopathies Mitochondrial Myopathies Muscular Diseases Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Vascular Diseases

Age range

4 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Columbia University

New York, 10032, United States

Location status: Recruiting

Location contact

Kris Engelstad, MS

CONTACT

[email protected]

'-212-305-6834

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. MRI/MRS

    Time frame: 2-3 years

    Evaluate structure and function in brain and muscle

Secondary outcomes

  1. Biomarkers

    Time frame: 2-3 years

    Evaluate various biomarkers of disease progression

  2. Motor skills

    Time frame: 2-3 years

    6 minute walk test to evaluate motor skills

  3. Cognitive function

    Time frame: 2-3 years

    Evaluate cognitive function through neuropsychological testing

  4. Clinical symptoms

    Time frame: 2-3 years

    Evaluate clinical symptoms through medical history questionnaires and physical exam

  5. Mutation load

    Time frame: 2-3 years

    Evaluate heteroplasmy through blood,urine and skin fibroblast evaluations

Study contacts

Contact information is provided by the study sponsor or research team.

Kris Engelstad, MS

CONTACT

[email protected]

2123056834

Sponsors and collaborators

Lead sponsor

Columbia University

Other

Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Registry information

Official study title

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

Important dates

Study start
2004
Primary completion
2026
Study completion
2026
First posted
Feb 15, 2012
Registry last updated
Jan 23, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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