7418: Genomic Testing for Molecularly Undefined NAMDC Registry Cases

Status: Active, but not recruiting subjects

Summary

The purpose of this study is to identify the genetic basis of mitochondrial disease in patients where the diagnosis is clinically highly suspected.

Despite advances and availability of genetic testing, many patients with several mitochondrial disease symptoms do not have a genetic confirmation of the disease. A subset of the participants in the North American Mitochondrial Disease Consortium Patient Registry and Biorepository (Study 7401) do not have genetic confirmation, even though they present with symptoms and findings compatible with a mitochondrial disease.

In this study, we will utilize samples previously collected in the North American Mitochondrial Disease Consortium Patient Registry and Biorepository (Study 7401) and perform more complete genetic testing on the DNA in those samples. Our goal is to confirm the presence of a mitochondrial disease in as many participants as we can in order to provide them with a more conclusive diagnosis for their disease.

How to participate

We will not be recruiting people to join this study at this time. NAMDC investigators will be looking at the records and specimens of their participants in the North American Mitochondrial Disease Consortium Patient Registry and Biorepository (Study 7401) to identify DNA samples that may proceed to the genomic sequencing testing under this protocol.