Who we are?
We are a patient driven charitable project, united by a common cause: to address the challenges of HSPB8 Myopathy, or Myofibrillar Myopathy Type 13 (MFM13) with Rimmed Vacuoles.
Our team comprises patients, family members, healthcare professionals, and researchers, all driven by a shared commitment to making a meaningful difference in the lives of those affected by this rare genetic condition.
Our vision is life free of MFM13 and all its burden.
Cure MFM13 Strategic Plan
- Our mission is to improve the lives of all people affected by MFM13 and their families. We do this by accelerating the drug development process, building a strong and empowered community and advocating for the community.
- Our vision is life free of MFM13 and all its burden.
- Our purpose is to alleviate suffering and empower the patients
- Our strategy is to invest in R&D, support MFM13 families, advocate for the community and grow as an organization
- Our values are urgency, transparency, evidence-based
What differs us: we are the only charitable project dedicated to addressing challenges of MFM13.
In contrast to some more mature rare disease patient groups, MFM13 is not tested for in neuromuscular centres and therefore one of our first main challenges it is reaching the correct diagnosis.
- Our goal is to find a treatment and a cure using state-of-the-art technologies and advances in science.
- Find a treatment and eventually a cure for MFM13. We will make smart investments in research that can identify possible treatments, develop a cure and improve our understanding of MFM13
- Objective 1: identify a currently approved therapy that can alleviate symptoms of MFM13 for example via a drug repurposing screen
- Objective 2: develop a disease modifying treatment
- Expand knowledge of MFM13
- Objective 1: gather information via the patient registry
- Objective 2: define suitable outcome measures and clinical endpoints
- Objective 3: answer basic biological questions about the disease mechanisms
- Build MFM13 community, and provide information and support. We are here to support our families and offer the resources and help they need to navigate life with MFM13
- Objective 1: find all the patients
- Objective 2: build a community of experts: researchers and clinicians and connect them with the patients
- Objective 3: provide support for families and connect them globally
- Objective 4: provide all the information for the patients regarding MFM13 promptly
- Advocate for the Community. Myopathy is ultrarare, so we work to raise awareness, gain recognition, and increase exposure for MFM13, ensuring our voice is heard.
- Objective 1: achieve recognition as a subtype of MFM or LGMD
- Objective 2: ensure MFM13 and Cure MFM13 is included in all rare disease databases, and human disease databases, and umbrella organizations.
- Objective 3: increase awareness within the wider rare disease community
We are part of
Our efforts
Driving Research Towards Cure
Patient registry - a first step to understand the natural history of the disease. In collaboration with NORD.
Gathering Data on Disease Progression
We provide funding to academic groups and industrial partners focused on developing a treatment for MFM13 and understanding the mechanisms of the disease.
Building a Strong Patient Community
We're creating a supportive network where patients and families can share experiences, find support, and stay connected.
Raising awareness
increasing public and professional awareness of MFM13 is crucial for early diagnosis and better care.
Working Towards Screening Inclusion
Our goal is to include MFM13 in screening panels for undiagnosed muscle wasting conditions to facilitate early detection and intervention.
Engaging with Regulatory Bodies
We actively communicate with organizations like the FDA to advocate for the needs of those with MFM13.
Our team
Todd King is a rare disease patient with HSPB8 Myopathy. Like many rare disease patients, he was "diagnosed" with an unknown myopathy after having some unusual symptoms. Unfortunately, also like many rare disease patients, he was not given a firm diagnosis, let alone a treatment plan – Or even a meaningful suggestion about steps to take.
After searching many years for a researcher to work with him, in 2015 he connected with Dr. Virginia Kimonis from the University of California, Irvine. Through the efforts of the Kimonis Lab and Ambry Genetics, the gene mutation causing the myopathy was identified as HSPB8 in 2016.
Since then, Todd, the Kimonis Lab, and others have been working to understand and ultimately treat / cure the condition. In 2023, he started CureHSPB8, a patient advocacy organization focused on finding that elusive treatment / cure.
Todd lives in Florida with his wife, and is a proud father to his daughter, who attends the University of Wisconsin, Madison. Todd holds degrees from MIT and the University of Chicago.
Dr. Ania Kordala, who holds a PhD in Physiology, Anatomy and Genetics from Oxford University, has a strong background in rare diseases research, in particular spinal muscular atrophy (SMA).
Her previous work was centered on unraveling SMA mechanisms and advancing therapeutic developments. In addition to her research career, Ania dedicated four years to patient advocacy with SMA Foundation in Poland, effectively influencing healthcare policies for better drug reimbursement and the inclusion of SMA in newborn screening programs.
Today, as a Program Director, she brings this wealth of experience, combining her deep scientific knowledge and proven impact in rare disease patient advocacy, to guide and shape future initiatives.
Sylwia Szwec holds a Master’s degree in Biotechnology from Adam Mickiewicz University in Poznań and is currently finalizing her PhD, focused on Duchenne Muscular Dystrophy (DMD). In addition to her academic background, she has hands-on experience in pharmaceutical regulatory affairs and drug marketing authorization processes.
With a strong foundation in neuromuscular disease research, Sylwia is passionate about translating fundamental discoveries into therapeutic strategies. At Cure HSPB8 she applies her scientific and regulatory expertise and coordination skills to support the team in advancing its research goals and mission
Karolina has an extensive experience in biotech, health tech, and non-profit management. Her work focuses on growing early-stage ventures and driving initiatives that bridge science and business to improve patient health outcomes.
With over two decades of experience in the pharmaceutical industry, Matt brings deep expertise in drug development and cell and gene therapies. At Cure HSPB8, he is leveraging this knowledge to help shape a focused R&D strategy aimed at addressing HSPB8 myopathy.
Khosiyat is a biotechnologist and Outreach Officer at Cure HSPB8, dedicated to enhancing visibility, fostering connections in the rare disease community, and preparing for a PhD at Karolinska Institutet in skeletal biology and immunology.
Julia is a biomedical student at Karolinska Institutet in Sweden, combining her scientific knowledge with a passion for graphic design to enhance Cure HSPB8's presence through engaging digital communication strategies.
Vânia brings a strong financial management background —shaped by her MSc in financial auditing — alongside more than 10 years hands-on experience in all things accounting & finance management.
Join us in the fight
Become part of a movement that is changing the landscape of MFM13.
Whether you're affected by the condition, a healthcare professional, or simply a compassionate ally, your involvement can make a profound difference.
Join us in our fight against MFM13. Together, we can turn our vision into reality.
