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7418: Genomic Testing for Molecularly Undefined NAMDC Registry Cases

Status: 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 who 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 despite that they present with symptoms and findings compatible with this disease.

In this study, we will look at samples 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. We will be looking at the records and specimens in the North American Mitochondrial Disease Consortium Patient Registry and Biorepository (study 7401)