Investigation into the Metabolic and Molecular Basis of Mitochondrial Disorders
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.
The objective is to utilize current and future molecular and cellular methodologies to gain a better understanding of the genetic causes and mechanisms which underlie disorders of mitochondrial function.
Must have a known or suspected pathogenic mutation in mitochondrial DNA or a mitochondrial related gene in the chromosomal DNA.
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 firstname.lastname@example.org 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 email@example.com.