Registry To Determine The Natural History Of Barth Syndrome

Overview

About this study

This Registry will serve as the basis for natural history studies of Barth syndrome, the first of which will focus on cardiac outcomes.

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:

  • Age range 0-99

  • Diagnosis of Barth syndrome by a cardiac or genetic specialist as determined by either:

    • Genetic Testing (TAFAZZIN variant); and/or 

    • Abnormal cardiolipin profiles (increased MLCL:CL ratio on blood spot)

Exclusion Criteria:

  • Failure to consent or assent.

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

 

Eligibility last updated 05/09/2025. 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

Rochester, Minn.

Mayo Clinic principal investigator

Talha Niaz, M.B.B.S.

Contact us for the latest status

More information

Publications

Publications are currently not available

Additional contact information

Non-cancer trials contact form

Phone: 800-664-4542 (toll-free)

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