Project Summary

Background: PCORI funded the Rare Disease and Research Engagement (RaRE) Project, which highlighted the difficulties with conducting comparative clinical effectiveness research (CER) with rare diseases due to small patient population, lack of natural history data, and non-standardized care.

Proposed Solution to the Problem: This project will leverage the RaRE Project by applying their learnings to a community of several connective tissue disorders (CTDs), specifically those with vascular malformations. The project team intends to develop a cross-cutting engagement and challenge-tackling Cardio-Ocular NEtwork Connective Tissue platform (CONECT) that will help CTD families develop and engage in cross-cutting new CER, make informed decisions, and ultimately get better care.

Objectives: The project will build preparedness for future patient-centered outcomes research (PCOR)/CER and dissemination by utilizing proven PCORI engagement resources to ensure robust multi-stakeholder engagement. The project team will build a network of arterial tortuosity syndrome (ATS), and other similar rare disorder stakeholders who are interested in cross-cutting PCOR/CER. The project team will build capacity with the lead of the RaRE project, sharing resources and other collaboration to build this network and engaging all partners to understand similarities of concerns, treatments, and approaches. Through engagement of all stakeholders, the project will address similarities and determine what is essential to the unified patient populations; it will identify the cross-cutting clinical challenges and discern PCOR questions pliant to programmatic CER studies. The project will establish a guide to disseminate and continue stakeholder engagement. The project team will create a unified platform of dissemination based on all stakeholders’ inputs. 

Project Outcomes:

Short-term Outcomes: The project team will organize a virtual patient-centered clinical meeting to identify the challenges specific to patients, caregivers, and clinicians in the scope of the platform. The patients and clinical experts will collaborate to identify the main knowledge gaps and medical requirements to inform future PCOR/CER. The objective of the patient-centered clinical meeting is to agree on co-learning outcomes, which will become the topics of expert-led masterclasses. The patients will then be able to act as key informants to clinicians, genuine to their disease, advocating for themselves, and participating in PCOR/CER.

Mid-term Outcomes: The platform will have a direct impact on awareness in the clinical community and an indirect impact through the increased ability of the patients to advocate for CER and other types of research.

Long-term Outcomes: The webinars and masterclasses could be used as a model for other teams when developing partner training or offered to partners focusing on research in this specific area of research. The interactivity of the model will allow readjusting the focus of cross-sectional issues in similar rare communities to address patient needs to evaluate PCOR priorities and lead to CER studies and, in the long term, their implementations.

Patient and Stakeholder Engagement Plan: The stakeholders are patients, clinicians, scientists, and other CTD community leaders. Stakeholders' recruitment, participation, and leadership of the virtual patient convening meeting and the patient-centered clinical meetings will follow the PCORI principles of engagement and strategy. The partners and external network engagement will be key in the recruitments of experts presenting the webinars/masterclasses and the audience retainment.    

Activities: To instigate the debates during the virtual meeting, the project leaders will present cross-cut results from 1. a scientific literature review, and 2. the results of a survey sent to patients prior to the meeting in order to collect data on their main concerns and manifestations. During the virtual convening a panel of patients, in collaboration with the audience, will agree on the key cross-cutting patient-centered outcomes and challenges. These will determine the themes of the first four webinars focused on patient education. The moderated webinars will be held on a Zoom platform, allowing a dynamic interaction between the speaker and the audience using the Zoom Question & Answer function. All webinars will be recorded and made available to the public on a dedicated YouTube channel.

Project Collaborators: Armelle Pindon, PhD; Andrea Taylor; Jade Day; Sky Collins; Bert Callewaert, PhD, MD; Shaine Morris, MD; Gretchen MacCarrick, CGC; Maya Zimmerman; Marie-Claude Boiteux; Pascal Bernatchez, PhD; Jennifer Bogardus, MD; Anna Cantalupo, PhD; Daphne Fulton, PhD; and Karolien Aelbrecht, MD.

Project Information

Andrea Taylor, AAS, BS
Armelle Pindon, PhD
A Twist of Fate - ATS

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: July 5, 2023