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Research Studies

Mitochondrial Medicine Program Research Studies

Find research studies available to children cared for by the Mitochondrial Medicine Program team.

Appointments and referrals

Recruitment Status

Study categories

Specialty

Eligible age

Clinical trial phase

DCA Trial in PDC Deficiency

We are studying an investigational drug called sodium dichloroacetate (DCA). Investigational means that the study drug has not been approved by the US Food and Drug Administration (FDA) and that its use in this study is experimental. This a purpose of this research study is to determine whether DCA is a helpful treatment for patient with pyruvate dehydrogenase complex (PDC) deficiency (PDCD).

Phase: Phase III

Actively recruiting: No

Category: Children

MSeqDR Data Collection and Sharing

The Mitochondrial Disease Sequence Data Resource (MSeqDR) is a central web portal that makes it easier to organize and analyze information from individuals and families with diagnosed and suspected mitochondrial disease. Currently, there is no mechanism in place to allow this group of individuals and families to choose who can access and analyze their information. The purpose of this project is to (1) Make it easier for participants to share their genomic data and (2) allow participants and/or their families to choose who can have access to and analyze these data, and how easily their data can be identified.

Phase: N/A

Actively recruiting: Yes

Category: Adults, Children, One-Time Visit Studies, Remote (Online / Phone Call Only) Studies

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