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A Study to Evaluate Genomic Profiling of Mitochondrial Disease

Overview

About this study

The purpose of this study is to improve the diagnostic yield and categorize the disease severity of each individual based on a novel quantitative combined metabolomics, clinical and genomic biomarker panel score; innovatively monitor the individual disease progression and response to therapy; and optimize a non-invasive diagnostic urine sample test for clinical application that will examine mtDNA.

 

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • 15-80 years of age.
  • Confirmed or highly suspected mitochondrial disease.

Exclusion Criteria: 

  • Outside of the age range.
  • No mitochondrial disease.

 

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Ralitza Gavrilova, M.D.

Open for enrollment

Contact information:

Danielle Loudermilk

(507) 422-5380

Loudermilk.Danielle@mayo.edu

Jacksonville, Fla.

Mayo Clinic principal investigator

Ralitza Gavrilova, M.D.

Closed for enrollment

Contact information:

Klaas Wierenga M.D.

Wierenga.Klaas@mayo.edu

More information

Publications

Publications are currently not available

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CLS-20502619

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