Project Summary

Background: Though AFBS has achieved significant milestones in 13 years, NM research lags behind other muscle diseases with similar discovery timelines. Community feedback tells us that part of what is missing is research that moves toward creating meaningful outcomes for patients; much of current NM research is still basic, in academic labs, on model organisms or cells, and only just starting to explore viable paths to move towards translational research. NM has a dearth of potential target treatments, incomplete natural history data, and very little outcome measure assessment to ensure clinical trial readiness. We believe consistent communication and increased, lasting partnership among patients, parents, and researchers can provide clarity for all and build momentum toward a new wave of patient-responsive research.

Proposed Solution to the Problem: With this effort, AFBS aims to utilize knowledge from past PCORI projects to educate NM parents virtually and in-person, nationwide, on how to be impactful rare disease advocates, to lead parents through a process of prioritizing a PCOR and impact “wish list,” and to create an infrastructure of engagement that ensures lasting connection for parents with a clear avenue to the scientific community, so that they become active PCOR partners. The NM community has never before pinpointed such community-oriented goals and has never had structured engagement over time to add focus and velocity to research.

Objectives: AFBS aims to utilize knowledge from past PCORI projects and PCOR tools, combined with experiences and insights from the NM-affected community and existing knowledge from NM researchers, to build an effective, lasting partnership among stakeholders. Specific objectives are to: 

  • Build upon previous successful PCORI projects that AFBS participated in, using knowledge gained to respond to community needs. For example, the 2015-2017 PCORI-funded project clearly demonstrated a demand for greater connection among NM-affected families. In many ways, AFBS has achieved this, and the community continues to seek additional opportunities, strategies, and systems to connect; 
  • Lead a series of bi-monthly trainings, supported by PCOR tools (“PCORI Research Fundamentals”), that assist parents in learning how to effectively engage with PCOR and researchers;
  • Create a “Family Advisory Board,” a sustained infrastructure of continued engagement for parents, caregivers, and affected individuals, which will be monitored during the proposed project period by an AFBS outreach assistant and shared with scientists and will continue past the project period. The Family Advisory Board will engage in focused, ongoing conversations to explore and set ongoing affected individual/parent priorities for NM research; 
  • Match affected individuals, parents, and caregivers of specific genetic diagnoses with researchers who study that affected gene, and convene these subgroups to build gene-specific cohorts who then share with the greater community of NM experts;
  • Hold quarterly calls with NM researchers, clinicians, and patient representatives, who will report NM community needs directly to scientists;
  • Provide tools and resources for small, regional, in-person meetings that would focus on parent-chosen topics including pre-clinical research, drug development, projects focused on quality of life issues, etc.; 
  • Prepare and train the community to apply for and hold an FDA Patient Listening Session to engage policymakers with stories from the patient community;
  • Engage with an affected community young “reporter” who will attend meetings and share her perspectives on research through her blog; and 
  • Provided it is safe, convene multiple stakeholders in one large, in-person conference to build community, learn from each other, spark ideas for discussion and collaboration, and work toward clinical trial readiness. If COVID-19 still compromises the health of the community in 2022 and 2023, AFBS will hold one large teleconference, engaging with a vendor and additional small in-person gatherings. 

Activities: Our goal is to build partners in research in the NM community, generating PCOR for the long term, and preparing the community for CER when it becomes available. Through virtual and online stakeholder meetings, small regional gatherings, and two in-person conferences over two years, AFBS will: 

  • Convene and train ~75 NM-affected families on the PCOR process and their important role on it;   
  • Create a sustainable infrastructure of monthly engagement and PCOR-focused partnership for the community, monitored by an AFBS outreach assistant, which will illuminate gene-specific and overall research priorities and will be attended in large part to engage in a focused, ongoing conversation about top priorities for NM PCOR. This will also engage parents/patients who cannot attend meetings directly;  
  • Build community, create lasting partnerships, spark ideas for discussion and collaboration, and work toward clinical trial readiness.

Projected Outcomes and Outputs: Short-term outcomes include 1) patient/caregiver community trained on the process of PCOR and the importance of their input in, and ability to drive, PCOR; 2) infrastructure of communication among diverse stakeholders; and 3) parent-vetted list of top PCOR priorities discussed with researchers. 

Medium-term outcomes include a written PCOR priorities plan, incorporating NM outcome measures capturing most pressing needs from the patients’ perspectives. 

Long-term outcomes include a Family Advisory Board to ensure strong, synergistic partnerships among affected families and NM experts.

Patient and Stakeholder Engagement Plan: Participating stakeholders will be individuals affected with Nemaline Myopathy, of any genotype, plus parents, caregivers, researchers, and clinicians (engaged monthly via brief updates, and bi-monthly via virtual meetings, with two larger in-person conferences and small regional gatherings).

Project Collaborators: Dr. Alan Beggs at Boston Children’s Hospital will be a major collaborator in this project, helping to devise agendas and ensure the focus is both patient-focused and timely.

Project Information

Marc Guillet, BS, MS
A Foundation Building Strength for Nemaline Myopathy

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: January 20, 2023