Background: TANGO2 deficiency disorder (TDD) is a genetic condition that affects many organ systems including the brain, heart and skeletal muscles. At baseline, kids with TDD have intellectual and developmental disabilities (IDD). Survivors have serious health challenges with ambulation, speech, seizures, hypothyroidism and risk of cardiac decompensation. There is a significant lack of knowledge on which to base treatment decisions. For TDD, the dearth of information, risk of serious medical issues and lack of treatment creates a sense of urgency.
Motivation: In rare diseases, patients and families should naturally be at the center of research investigations. Their personal experiences make them experts on phenotypes and disease progression. Yet, research questions largely remain investigator-driven. Rare disease researchers and the wider stakeholder community alike are unaccustomed to patient-centered outcomes research/comparative clinical effectiveness research (PCOR/CER), often having no existing tools or training to build capacity in this type of research By enhancing TDD research with PCOR/CER methodologies and tools, the project team will create a toolbox that will be used to build capacity among stakeholders to effectively collaborate throughout research initiatives.
Goal: To cultivate a learning network of stakeholders invested in using a TDD PCOR/CER toolbox and resources to design and implement TDD PCOR/CER projects.
- Build capacity through awareness and engagement by teaching stakeholders how to develop and conduct TDD PCOR/CER.
- Encourage stakeholders to utilize the PCOR/CER toolbox.
- Build a T2RF research roadmap.
- Implement an online TDD PCOR/CER stakeholder learning community.
Activities: The following activities will be used to achieve each objective: monthly virtual planning meetings with pre/post work and tasks, frequent use of a collaborative project management web-based platform and regular communications with the project team via email.
- A TDD PCOR/CER toolbox
- An online TDD stakeholder/Investigator PCOR/CER workshop series
- An online TDD PCOR/CER open forum
- A PCOR/CER TDD awareness social media campaign
- A 2024 TDD PCOR/CER conference
- A research roadmap
- An online TDD PCOR/CER network learning community
Projected Outcomes and Outputs:
Short-term outcomes during the project period include:
- Increased number of stakeholders who are aware of the TDD PCOR/CER toolbox, vested in using the PCOR/CER toolbox, educated in PCOR/CER methodology and engaged after PCOR/CER workshop training and open forums.
- Collaborative development of a T2RF research roadmap.
Medium-term outcomes (0-2 years post-project period) include:
- A fully functioning online TDD PCOR/CER learning network.
- Implementation of a T2RF PCOR/CER funding mechanism.
- An increase in TDD PCOR/CER proposals submitted to the T2RF.
- A growing number of stakeholders interested in the TDD PCOR/CER toolbox.
- Increase in funded TDD PCOR/CER proposals.
- Implementation of the research roadmap.
Long-term outcomes (3+ years post-project period) include:
- Increased number of published peer-reviewed TDD PCOR/CER studies.
- Development of a T2RF online interactive geo-map to connect stakeholders.
- TDD stakeholder discussion regarding a TDD international registry for continued PCOR/CER data inquiries.
Patient and Stakeholder Engagement Plan: This project will engage the following Stakeholders: TDD affected patients and family members, researchers and healthcare providers. Stakeholders will be engaged in each phase of development and implementation for the project’s activities and deliverables. They will offer structured suggestions and feedback, be assigned pre/post meeting work and tasks and be encouraged to participate in the project's deliverables. Lastly, they will be a part of dissemination efforts during the project's life cycle.
Project Collaborators: Chan Zuckerberg Initiative (CZI) Rare As One Network (RAO), Baylor College of Medicine/Texas Children’s Hospital, UPMC, The International 22q11.2 Foundation and The National Organization for Rare Disorders (NORD).