Only the patients know what it is like to live with MFM13.
Join Patient Registry.
Every patient's medical data tells a story, and when these stories are brought together, they become a powerful tool. Data from multiple patients over time are essential to teach the medical and research community what the trajectory of life with a disease truly looks like, and they are indispensable for the development of new therapies. In rare diseases especially, data is so scarce and fragmented that every single patient who contributes their information, provides invaluable knowledge that simply cannot be gathered in any other way. This is whywe are partnering with RARE-X, a program of Global Genes, to build a Patient Registry (or a Data Collection Program – DCP) for individuals and families affected by Myofibrillar Myopathy Type 13 with Rimmed Vacuoles (MFM13).
How can I register?
To introduce the Data Collection program to the community, walk you through the platform and answer any question you may have, we are running a zoom webinar on 25th June 2026, at 12 PT / 3 om ET / 9 pm CET.
Register for our webinar about the MFM13 Data Collection Program!
What are Global Genes and RARE-X?
Global Genes is one of the leading international nonprofit organizations dedicated to supporting people living with rare diseases. Founded in 2009, its mission is to connect, empower, and advocate for rare disease patients and families worldwide through education, research support, and community-building initiatives.
To help accelerate rare disease research, Global Genes created RARE-X, a nonprofit data-sharing and patient registry platform designed specifically for rare disease communities. RARE-X was launched in 2021 and works with patient advocacy organizations to make data collection accessible, secure, and meaningful for families while ensuring that the data is high quality and research-ready.
Today, more than 120 rare disease organizations and patient communities use the RARE-X platform to support research and therapy development. By participating, patients help researchers better understand diseases, identify potential treatment targets, improve clinical trial readiness, and accelerate the development of urgently needed therapies.
What are we building?
A Data Collection Program, also known as a Patient Registry, is a structured database that collects standardized information (Real World Data) about individuals diagnosed with a specific disease or condition in this case, MFM13.
The program collects information such as symptoms, genetic findings, history of diagnosis (including genetic testing if available), mobility and daily functioning, quality of life, treatments, and other medical experiences shared directly by patients and caregivers.
Data are collected longitudinally over time, allowing researchers to better understand how MFM13 progresses throughout a patient’s life and how the disease may differ between individuals.
What is Real-Word Data and why we need it for?
Real-World Data (RWD) refers to health information collected outside of traditional clinical trials. This can include patient-reported symptoms, genetic information, medical history, daily functioning, mobility, treatments, and quality-of-life experiences shared directly by patients and caregivers.
When analyzed together, RWD can generate Real-World Evidence (RWE), meaningful insights about how a disease progresses, and how treatments may work in real-life settings.
For rare diseases like MFM13, RWD is especially important because patient populations are small, and traditional clinical studies can be difficult to conduct. Collecting high-quality longitudinal data helps researchers better understand the natural history of the disease and can support therapy development even before clinical trials begin.
This video explores RWD and RWE, explaining why they are critical to rare disease research:
