Project Summary

Background: Cerebral creatine deficiency syndromes (CCDS) are three rare diseases (AGAT, GAMT, and creatine transporter deficiency) that lead to a lack of creatine in brain and muscle and manifest as severe intellectual and speech disabilities and seizures. Most CCDS patients are dependent on caregivers for life, putting a significant burden on families. Though GAMT can be treated with supplements, researchers are debating recommended dietary restrictions and patients have a tough time adhering to treatment. Creatine transporter deficiency (CTD) has no approved treatment, but a few companies have attempted drug development. CCDS researchers often use indirect clinical outcomes (such as brain creatine levels or metabolic data) to monitor progress. This is not always meaningful to families. 
The problem this project addresses is the acute need for parents/caregivers to build capacity to actively engage in research to define the outcomes that should be measured and reported on (core outcomes) that are most meaningful to CCDS families.

Proposed Solution to the Problem: 

  • Engage and train a broad and diverse range of CCDS families on the scientific process using the PCORI Research Fundamentals modules
  • Leverage the ECHO meeting, a novel training service delivery and training model, to build community and a collaboration platform between parents and researchers
  • Adapt existing methodology to collaboratively develop a core outcome set for CCDS, aligned with what really matters to CCDS families 
  • Build a set of research priorities for the CCDS community and a model replicable for other patient advocacy organizations, especially in the ultra-rare-disease community


  • Train 20+ CCDS families on PCOR/CER to participate across all phases of the entire research process to lead projects that are meaningful to them
  • Provide the community with an innovative network space, following the ECHO model, so that families can effectively communicate with researchers and clinicians to develop a set of core outcomes for CCDS within the two-year project period
  • Assemble a sustainable PCOR plan, based on the family-identified research priorities, with parents/caregivers as research partners, active stakeholders in the entire research process, ready for future partnership-based research opportunities

Projected Outcomes and Outputs: By the end of the PCORI-funded project, CCDS families and researchers will have formed a network of partnership-based research, developed a COS with PMOs for CCDS and developed patient-centered resources including case studies insights.

In the long term, the education and learning experience gained through the process of COS and PMO development will create unique knowledge and will enable the CCDS community to take initiative and move research forward. Ultimately, this will contribute to an improvement of clinical outcomes and quality of life for affected children and their families.

Patient and Stakeholder Engagement Plan: ACD will recruit parents/caregivers, researchers, and rare disease/health advisors, to serve on the project team, with an emphasis on diversity. The project team will meet in person (if safe) and virtually as they participate in training, networking, the development of core outcomes for CCDS, and a sustainable PCOR plan to guide future opportunities. CCDS families/parents/caregivers will be fully integrated as active stakeholders in the entire research process.

Project Collaborators: ECHO Institute, PCORI Ambassador(s), CCDS family members, researchers.

Project Information

Laura Trutoiu, BA, MS, PhD
Association for Creatine Deficiencies

Key Dates

24 months


Project Status
State State The state where the project originates, or where the primary institution or organization is located. View Glossary
Last updated: February 15, 2024