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Children with Mitochondrial Disorders
Protocol: STUDY00004513
Full Title
Investigation into the Metabolic and Molecular Basis of Mitochondrial Disorders
Description
This study enrolls children who have a mitochondrial disease. The purpose of this research is to learn more about mitochondrial diseases, including their genetic causes and the types of medical problems associated with them.

During this study, we will take samples from your child at their regular appointment, including one of each: blood, sputum (spit), cheek swab, and skin samples. Study takes place at Oishei Children's Hospital in Buffalo, NY.
Compensation: No
Eligibility
Children
Must have a known or suspected pathogenic mutation in mitochondrial DNA or a mitochondrial related gene in the chromosomal DNA.
Age Group: Both Adults and Children
Want to Learn More?

Let us know how the study team can reach you. If you do not hear back within 2 business days, reach out to the study team directly at the contact information above or email ctsiresearch@buffalo.edu and someone will assist you.

Your information will be shared only with the research study team for recruitment purposes and designated CTSI personnel for project quality assurance and will remain confidential. Your information will be stored indefinitely. Should you no longer want this information to be provided in the aforementioned ways, please contact ctsiresearch@buffalo.edu.

Thank you for your interest. This study has restricted recruiting for participants and is not accepting inquiries at this time. If you are interested in learning more about research at UB contact ctsiresearch@buffalo.edu.