At A Foundation Building Strength, we believe that real progress happens when visionary science meets an empowered community. Thanks to the unwavering generosity of our supporters and the resilience of our global network, we have grown into the leading force dedicated to finding treatments for Nemaline Myopathy.
From committing multi-million dollar investments into the ongoing development of cutting-edge therapies to establishing critical natural history studies and supporting families every step of the way, our work reflects a simple truth: together, we are accelerating progress faster than ever before. Explore our impact below to see how your support is turning hope into action.
At a Glance:
$9.8 million committed to NM research.
Across our history, AFBS has committed $9.8 million to Nemaline Myopathy research, including $3.6 million in active studies as of 2026, the largest portfolio in our history.
Nine active projects on four continents.
AFBS funds nine active research projects at leading muscle and gene therapy centers in North America, South America, Europe, and Australia.
A community spanning 53 countries.
375 NM patients are enrolled in the Congenital Muscle Disease International Registry, and 53 countries are represented across the AFBS community.
Research spanning six NM genes.
Nemaline Myopathy is caused by variants in roughly a dozen genes, each its own scientific challenge. AFBS currently funds work across six of them, including NEB, ACTA1, KBTBD13, KLHL40, KLHL41, and CFL2, so more families see their form of the disease moving toward treatment.
More than a funder.
AFBS has grown beyond writing grants into competitive research initiatives, industry partnership, multi-continent clinical infrastructure, and direct support for families entering research.
2025 Impact Report
We’re excited to share our 2025 Impact Report showcasing a year of significant progress in our search for treatments for Nemaline Myopathy. This report highlights the strides made in AFBS-funded research projects, our expanding efforts to raise awareness and foster community support, and the dedication of our staff, scientists, donors and community members who are vital to our mission.
Inside, you’ll find detailed updates on our research initiatives, insights into our financial stewardship and fundraising efforts, and a clear picture of how your generous support is driving meaningful impact. Discover how we’re working to accelerate the development of therapies and improve the lives of individuals affected by NM.
Milestones
2022
Recognized by national research funders
AFBS received grants from the Patient-Centered Outcomes Research Institute (PCORI) and the Chan Zuckerberg Initiative (CZI), independent recognition of the organization’s strategy and capacity.
Taking on the rarest forms of NM
AFBS funded a five-year program at Brigham and Women’s Hospital, running through 2027, developing therapies for KLHL40- and KLHL41-related Nemaline Myopathy.
2023
Targeting the molecular cause of KBTBD13-related NM
AFBS funded a four-year international effort led from Amsterdam UMC to move KBTBD13-related NM from disease biology toward a therapeutic strategy.
Launching gene therapy development for ACTA1
AFBS funded a gene therapy program at Nationwide Children’s Hospital targeting one of the major genetic causes of NM. The program was renewed through our 2025 Request for Applications, sustaining multi-year development.
2024
Building the foundation future therapies depend on
AFBS funded biobanking and genetic testing at Boston Children’s Hospital, further supporting the tissue samples, genetic data, and diagnostic capacity that clinical trials rely on.
2025
Our largest research expansion in a single cycle
Through a competitive Request for Applications, AFBS funded three new projects and renewed a fourth, the biggest single-year growth of our portfolio:
- Our first industry partnership, pairing AFBS with a commercial developer on a targeted, non-viral system to deliver nebulin.
- Gene therapy for the most common form of NM, a mini-nebulin program at the University of Pennsylvania aimed at NEB-related disease.
- A faster way to test treatments, a University of Washington and Murdoch Children’s Research Institute collaboration using 3D engineered muscle tissue to evaluate candidate therapies for ACTA1, NEB- and CFL2-related NM more quickly than traditional methods allow.
- Continued gene therapy development for ACTA1 at Nationwide Children’s Hospital.
Bringing families and scientists into the same room
AFBS co-hosted SciFam, a combined scientific and family conference held in summer 2025 alongside Cure CMD and Team Titin. The meeting drew 344 participants, including families, researchers, clinicians, and industry partners, with 93 clinical and scientific experts and 9 patient countries represented.
Asking the community what matters most
AFBS surveyed 179 affected individuals and caregivers through its Priorities and Perspectives Survey, identifying the outcomes families consider most urgent and grounding our research priorities in what the community told us.
Extending natural history research to South America
AFBS supported a natural history study at the University of São Paulo, bringing rigorous NM data collection to a patient population that had not been systematically studied.
2026
Coordinated natural history research across North America
AFBS helped launch a five-site, Stanford-led natural history study spanning the continent, building the kind of clinical evidence FDA guidance emphasizes for rare disease trial design. With São Paulo, AFBS now supports natural history research in both North & South America.
Beyond Funding
Helping families take part in research.
AFBS helps families access genetic testing, donate tissue to the biobank, and enroll in patient registries, removing the practical barriers that keep participation low in rare disease research. 375 NM patients are enrolled in CMDIR and more than 50 patients have joined Citizen Health, a number still growing.
Setting the research agenda.
AFBS convenes a Scientific Advisory Board, maintains a research gap analysis, and funds against identified priorities informed directly by community input.
