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Cardiolipin Profiling for Barth Syndrome Screening and Characterization

Overview

About this study

The purpose of this study is to investigate whether a new high-resolution analysis of MLCL and/or CL can uncover additional CL subspecies that enhance sensitivity of this ratio or improve the signal-to-noise than previously published studies.

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:

  • Specimens (dried blood spots, whole blood, or retrospectively available cultured cells) from Barth subjects and controls identified by the Barth Syndrome Foundation and/or clinical testing at the Mayo Clinic Biochemical Genetics Laboratory.
  • Residual specimens from the Mayo Clinic Biochemical Genetics Laboratory:
    • Up to 1,000 control subjects from pediatric and adult populations through age 99 on date of relevant specimen collection.
  • Data collected as part of the Barth Syndrome Foundation Registry and Biorepository and/or clinical testing at the Mayo Clinic Biochemical Genetics Laboratory.

Exclusion Criteria:

  • None.

Eligibility last updated 8/13/21. Questions regarding updates should be directed to the study team contact.

 

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

Devin Oglesbee, Ph.D.

Closed-enrolling by invitation

What is this? (?)
"Close"
Not open to everyone who meets the eligibility criteria, but only those invited to participate by the study team.

Contact information:

Karen Friedt

(507) 284-0944

Friedt.Karen@mayo.edu

More information

Publications

Publications are currently not available

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CLS-20535806

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