TANGO2-related disorder is a serious genetic disorder that affects multiple organ systems in children including brain, heart, and skeletal muscles. Children can present with life-threatening heart rhythm abnormalities and muscle breakdown, termed as rhabdomyolysis. The disorder is characterized by acute episodes of crises when children can present to the emergency room with low blood sugar, gait abnormalities, and disorientation. Frequently, they are comatose on admission and require intensive care unit admission for managing cardiac rhythm abnormalities and rhabdomyolysis. In addition, they can have seizures and intellectual disability. This disorder was recently discovered in 2016 and since then, several families have been diagnosed with this disorder. Unfortunately, some affected children have died during their acute episodes. There is a significant lack of knowledge on which to base treatment decisions. Researchers believe that significant progress can be made in clinical studies, but need ways for promoting parent stakeholder input. These stakeholders need to come together to address current knowledge and practices regarding this rare disorder and identify areas for relevant research, to improve quality of life and reduce mortality.
The stakeholders will come together at an engagement conference at Baylor College of Medicine, Houston, Texas in summer of 2019 for research development. This conference will engage parents and researchers in planning clinical studies; develop a patient-centered model for clinical research; develop consensus on research questions with patient-reported outcomes that can be translated into future clinical studies; and create educational and awareness materials for use by all stakeholders. The conference committee will invite between 75 and 100 key stakeholders. Parents of patients with TANGO2 disorder will give presentations about their experiences and share questions and concerns regarding research and clinical studies. Clinicians will make similar presentations. Researchers will discuss current knowledge about TANGO2 disorder and explore unanswered questions. Workshops and group discussions will be scheduled to make progress toward the conference’s goals. Parents will serve as key personnel on the conference committee, as well as attend, present, and participate in the conference, including creation and dissemination of post-conference materials. Projected outcomes and long-term objectives include: engagement of all stakeholders in the creation of patient-centered research projects with patient-reported outcomes; demonstration of the value of including parents in clinical study planning; and creation of stakeholder communities trained in and committed to PCOR-related research. Project collaborators include TANGO2 Research Foundation, a parental support group whose mission is to improve the lives of those children and young adults affected by TANGO2-related disease by helping to fund, coordinate, and guide scientific research.