In rare disease research, data only tells part of the story until it includes the lived experiences of those who navigate the condition every day. That vision took a leap forward with the publication of “Nemaline Myopathy Patient and Caregiver Perspectives: A Multinational Cross-Sectional Study” in Neuromuscular Disorders.
Made possible through research funding from A Foundation Building Strength (AFBS), this paper represents the first comprehensive assessment of Nemaline Myopathy (NM) patient and caregiver perspectives across age groups, severity spectrums, and borders.
A Global Snapshot of the NM Community
Built directly from AFBS’s 2025 “Priorities & Perspectives” survey of community members, the study gathers insights across 33 countries. This publication bridges a critical gap by analyzing the day-to-day realities, priorities, and unmet needs of both individuals living with NM and the caregivers who support them.
By capturing a multinational cohort spanning infants to adults and mild to severe presentations, the findings provide an unprecedented look at how NM impacts daily functioning, emotional well-being, and healthcare navigation across diverse healthcare systems worldwide.
Uncovering Previously Unreported Insights
The real power of this study lies in what had previously gone unrecorded. By systematically documenting lived experiences, the paper reveals key insights that have rarely appeared in clinical registries or trial designs:
- Nuanced Quality-of-Life Priorities: Highlighting the distinct daily challenges, coping mechanisms, and support needs that differ between pediatric and adult cohorts.
- The Caregiver Dimension: Quantifying the emotional, physical, and financial realities carried by families managing complex care routines.
- Global Variabilities: Illuminating how access to specialized therapies, assistive technology, and clinical expertise varies significantly across regions.
Strengthening the Path to New Therapies
Translational research is most effective when it is patient-centered. For academic investigators and regulatory agencies, understanding what matters most to families is critical for designing meaningful clinical trials and choosing relevant primary endpoints.
By establishing a robust, multinational baseline of patient-reported outcomes, this publication ensures that future therapeutic development is directly aligned with the community’s highest-priority needs.
Read the Full Paper
This landmark achievement belongs first and foremost to the patients and families who took the time to share their journeys, challenges, and hopes.
You can read the open-access publication in full here.*
*To read even more publications featuring AFBS funded research, visit our Research Publications page. Each Nemaline Myopathy focused research publication listed is a testament to the power of collaboration between AFBS and researchers who share our mission to drive progress toward treatments for Nemaline Myopathy. These scientific papers represent the cutting-edge discoveries and collaborations made possible through AFBS’s support, underlining our commitment to driving progress in nemaline myopathy research, ultimately striving for treatments and improved lives.
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!