Research Studies

Mitochondrial Medicine Program Research Studies

Find research studies available to children cared for by the Mitochondrial Medicine Program team.
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Clinical trial
Adults (3)
Children (3)
One-Time Visit Studies (2)
Remote (Online / Phone Call Only) Studies (2)
Healthy Controls (1)

Clinical Trial Phases
Pilot (2)
Phase III (1)
N/A (1)

Recruitment Status
Non-recruiting (2)
Recruiting (2)

Related Specialties and Programs
Mitochondrial Medicine Program (4)
Division of Human Genetics (1)
Division of Infectious Diseases (1)

Specialty
Genetics (4)
Infectious Diseases (1)

Breath Biomarkers of Mitochondrial Dysfunction
This prospective cohort study will compare breath biomarkers from subjects with mitochondrial disease to healthy controls. The age range for the study is 4-80 years and all subjects will be recruited at CHOP. Participation would consist of a one time visit, up to 45 minutes maximum, to collect identifiable information and breath sample. The goal is to identify VOC biomarkers that characterize mitochondrial disease compared to healthy controls, which could lead to a non-invasive breath test for mitochondrial function. Subjects will be compensated as a form of appreciation for participating in the study. 

Phase: Pilot

Actively recruiting: No

Category: Adults, Children, Healthy Controls, One-Time Visit Studies

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

PRISM and CFN for PMD
Primary mitochondrial diseases (PMD) are a group of energy deficiency disorders that are typically progressive and range in onset and severity. Individuals with PMD experience a variety of clinical symptoms that not only affect their physical health but significantly impact their daily life.
The goal of this study is to find the best way to help adults with PMD deal with the stress of their condition, and to help them be better able to “bounce back,” or be resilient. In order to do this, we are going to test two interventions. The first is called Promoting Resilience in Stress Management (PRISM). The second is called clinical-focused narrative (CFN) intervention.
The study period will last for about one month and will consist of five online visits and a one-time online discussion group.

Phase: Pilot

Actively recruiting: Yes

Category: Adults, Remote (Online / Phone Call Only) Studies