PCORI and CZI awards lay foundation for game-changing growth and research momentum

A Foundation Building Strength (AFBS) has been approved for two major awards that will significantly benefit the Nemaline Myopathy (NM) community:

  • The Chan-Zuckerberg Initiative (CZI) has awarded AFBS a three-year, $600,000 grant to develop a patient-led collaborative research network, with a key focus on improving diagnosis and diversity, equity, and inclusion within the disease area.
  • The Patient-Centered Outcomes Research Institute (PCORI) has awarded AFBS a two-year, $248,646 award through the Eugene Washington PCORI Engagement Awards program. The funds will support efforts to build community capacity, and create effective partners in research toward translational research in Nemaline Myopathy (NM). In short, this project seeks to build momentum in NM research in the next two years.

Marc Guillet, Executive Director and co-founder of AFBS, will lead both projects. For the CZI project, the Board of Directors will provide support, along with AFBS Scientific Director Gustavo Dziewczapolski and Outreach Coordinator and AFBS community member, Stacy Cossette. For the PCORI engagement award, Guillet will work with Scientific Director and Project Lead designee Dziewczapolski, plus Outreach Coordinator Sarah Foye.

Activities included in these projects include, but are not limited to:

  1. Building a patient-led network
  2. Recruiting 75 families to partner in 10 webinars over the course of two years
  3. Working with a team of AFBS representatives and NM researchers to effectively put into motion efforts that address the affected community’s most urgent concerns.
  4. In-person gatherings, including a Scientific and Family Conference in Nashville, TN (6/30 – 7/3/22)

CZI project Outreach Coordinator Stacy Cossette, PCORI project Outreach Coordinator Sarah Foye, and AFBS Board member Patty Mitchell

“I’m excited that we have the opportunity to build meaningful momentum in NM research, incorporating the most valuable factor in the work we do: our community members. They are key to the success of this project, and I’m eager to work more closely with families around the world over the next two years.”

Marc Guillet, AFBS Co-Founder and Executive Director

Dziewczapolski adds, “The NM research community is at the precipice of initiating multiple exciting projects. All stakeholders are needed to push forward research, and now is the time for the community to dig in.”

Creating Long-Term Patient and Parent Partners in Nemaline Myopathy Research is part of a portfolio of projects that PCORI has funded to help develop a community of patients and other stakeholders equipped to participate as partners in comparative clinical effectiveness research (CER) and disseminate PCORI-funded study results. Through the Engagement Award Program, PCORI is creating an expansive network of individuals, communities and organizations interested in and able to participate in, share, and use patient-centered CER.

“This project was selected for Engagement Award funding because it will build a community equipped to participate as partners in CER and develop partnerships and infrastructure to disseminate PCORI-funded research results. We look forward to working with A Foundation Building Strength throughout the course of their two-year project.”

Greg Martin, PCORI’S Acting Chief Engaging and Dissemination Officer

PCORI is an independent, nonprofit organization authorized by Congress in 2010 to fund comparative effectiveness research that will provide patients, their caregivers, and clinicians with the evidence needed to make better-informed health and healthcare decisions. PCORI is committed to seeking input from a broad range of stakeholders to guide its work. 

A Foundation Building Strength’s project and the other projects approved for funding by the PCORI Engagement Award Program were selected through a highly competitive review process in which applications were assessed for their ability to meet PCORI’s engagement goals and objectives, as well as program criteria. For more information about PCORI’s funding to support engagement efforts, visit http://www.pcori.org/content/eugene-washington-pcori-engagement-awards/.

Finally, AFBS is one of only 20 organizations selected for the highly competitive CZI “Rare As One” network. This network aims to lift up the work of patient communities and scale a model in which patients, researchers, clinicians, and others work together to advance progress against their diseases. For more information, visit https://chanzuckerberg.com/science/programs-resources/rare-as-one/.

ABOUT NEMALINE MYOPATHY

Nemaline Myopathy (NM) typically presents in infancy or early childhood with hypotonia, weakness, and/or delayed motor milestones; markers include impaired bulbar function, with muscles for speech/swallowing particularly affected. Severity varies greatly, though most with NM have lifelong disabilities including limited/no ambulation.

NM is not marked by progressive weakness; however, muscles struggle to support a growing body and reliance on mobility/respiratory support may weaken function. Patients may need to be fed by a G-tube, and may need consistent breathing assistance; because of bulbar weakness, communication can be challenging (patients say people think they’re not smart, because they are unable to speak clearly, though intelligence is not affected). Continuous management of the disease is required. The burden of care can be significant.

No treatments, disease-modifying therapies, or cures exist; nor does a formal network of clinical care centers working toward establishing outcome measures suitable for interventional clinical trials.

Today, clinicians and researchers also aim to confirm the diagnosis through genetic testing, and there is a firm conviction from AFBS, all NM affected communities, and the pediatric neurologist’s teams to shift the diagnosis paradigm completely, avoiding the invasive biopsy practice and moving the diagnosis totally to genetics.

ABOUT A FOUNDATION BUILDING STRENGTH

A Foundation Building Strength was founded in 2008 by two parents of a child affected by Nemaline Myopathy. AFBS is the largest organization that operates solely to advance research of NM and support families affected by it. We work to create a fully functioning NM ecosystem, where researchers, clinicians, and caregivers (and affected individuals) support each other in their efforts to ease the NM burden and advance research.