A Foundation Building Strength is thrilled to share a major milestone in our journey toward effective treatments. For the first time, a comprehensive, multi-year effort is underway to document the progression of Nemaline Myopathy (NM) through Prospective Natural History Studies in North America, Brazil, and Europe.
These studies are a prerequisite for progress. By creating a clear, clinical picture of how NM changes over time, we’re building the “road map” that regulatory agencies like the FDA require to approve future human clinical trials.
Now Enrolling: The North American Study
Led by Dr. Carolina Tesi-Rocha, this AFBS funded initiative is the first of its kind in North America. We are excited to announce that our first site is officially up and running! While the study will ultimately span several expert institutions across the United States and Canada, Stanford University is now actively enrolling participants.
Study Details at a Glance:
- Who Qualifies: North America-based children aged 0–18 with a confirmed diagnosis of NM and mutations in the ACTA1 or NEB genes.
- The Timeline: This is a 3-year observational study.
- What to Expect: Participants visit an expert site every 3–6 months for clinical exams, strength and respiratory testing, imaging, and questionnaires.
A Global Network: Brazil & London
Scientific progress knows no borders. Concurrently, AFBS is funding a natural history study in Brazil, helmed by Dr. Cristiane Moreno, which is already operational at the University of São Paulo.
Additionally, our efforts are being coordinated with a sister study at University of Oxford (the NatHis-NM-MDUK study). While this UK-based study is not AFBS-affiliated, our teams are working in close alignment to ensure data is compatible. By standardizing how we measure NM globally, we create a much more powerful dataset for researchers and regulators worldwide.
The Digital Retrospective Study: Powering Research from Home
In addition to our in-person studies, we are proud to highlight our Digital Retrospective Natural History Study in partnership with Citizen Health and the Chan Zuckerberg Initiative (CZI).
Unlike the prospective studies that look forward over three years, this digital initiative looks backward at existing medical records. By participating, families can centralize their medical history in one secure digital location while contributing de-identified data to help researchers understand the long-term history of NM. This partnership allows us to harness the power of “real-world evidence” to accelerate our understanding of the disease from the comfort of your home.
Why This Matters Now
To test a new treatment, scientists first need to know exactly what the “natural” course of the disease looks like. These studies provide that essential baseline. Without this work, clinical trials for the promising research we fund– including gene therapies and drug repurposing– can’t move forward.
This is a huge milestone for AFBS and the entire NM community. We’re moving from the lab to the clinic, ensuring that when a potential treatment is ready, we’re ready for it.
Enroll Now
Interested in participating? If you’re an ACTA1 or NEB affected family in North America interested in the Stanford Prospective Natural History site, you can visit the official study website for details. For more information on the Brazil or UK studies, reach out to us via email at info@buildingstrength.org! U.S. based affected families or individuals can take part in Citizen Health’s Digital Retrospective Natural History Study through a quick signup process at this link.
Together, we’re building the foundation for a future of effective treatments.
A Foundation Building Strength (AFBS) is a nonprofit organization dedicated to accelerating the development of treatments for Nemaline Myopathy. Our mission is to fund cutting-edge research to find effective treatments while providing resources and a strong community for families affected by NM. We are proud to be at the forefront of driving Nemaline Myopathy research breakthroughs forward through collaborations with research teams across the globe.
Donate to AFBS: Your monetary gift will support critical research and provide vital resources for NM families.
Stay Connected: Sign up for our email list to receive the latest updates from AFBS and learn more about NM research. Are you an individual or a caregiver of an individual affected by NM? Fill out the AFBS Contact Survey to be connected with valuable resources, support, and research opportunities! Visit our “Get Involved” page for even more ways to connect!