Research
By funding foundational research, the LGMD2L Foundation aims to bridge this gap, making it easier and more affordable for researchers and organizations to build on these discoveries. A better understanding of the disease’s mechanisms, along with evidence-based insights into drugs, supplements, and lifestyle choices, will empower patients and families to make informed decisions about their care. Eventually we hope this research will enable treatments or a cure.
Every breakthrough begins with understanding. Our mission is to build that understanding and make breakthroughs happen.
LGMD2L is a rare genetic disorder. By some estimates it may impact up to 1 in 60,000 people worldwide, yet it remains critically under-studied. With limited attention from academic institutions and pharmaceutical companies, those living with this condition suffer from having no available treatments and little guidance.
Why do we fund research?
This strategic approach is designed to maximize the impact of every research dollar and maximize the chance of finding treatments.
Paving the way for treatments: We fund research into the development of new treatments and the repurposing of existing treatments.
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Fostering collaboration: We build connections between researchers, pharmaceutical companies, and patients, making sure LGMD2L receives the attention it deserves.
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Building foundations: We provide the building blocks for future discoveries by supporting foundational research, developing tools, and collecting data.
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Our roadmap is built on three pillars:
Our research roadmap
This strategic approach is designed to maximize the impact of every research dollar, inspire collaboration across disciplines, and create hope for individuals and families living with LGMD2L.
Provide patients and families with evidence-based guidance on treatments, supplements, and lifestyle choices, helping them make informed decisions for managing their condition.
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Raise awareness in the academic community and pharma industry, fostering interest and collaboration to accelerate research towards treatments.
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Enable pharmaceutical companies to test existing treatments and explore new therapies specifically tailored to neuromuscular conditions like LGMD2L.
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The impact of our research initiatives goes far beyond academic discoveries. By addressing critical gaps in understanding and fostering collaboration, we aim to create tangible benefits for the LGMD2L community. These efforts are designed to transform research insights into meaningful outcomes:
Our research impact
Our research impact
Together with MDA, FSHD Society and Parent Project Muscular Dystrophy, the LGMD2L Foundation funded a study at the University of Copenhagen to understand damage and regeneration in dystrophic muscle at the cellular level.
Studying muscle regeneration
Foundation board member Axel Kruger funded a project at Université Paris-Est Créteil to examine how existing compounds used in medicine affect the muscles of LGMD2L patients. The work derives small muscle-like organoids from patient cells and exposes them to a large number of compounds to screen for repurposing potential.
Developing cell therapy treatments
The LGMD2L Foundation is collaborating with Cure Rare Disease, a 501(c)3 nonprofit, to develop a first in class gene replacement therapy for LGMD2L. The development program draws on CRD’s existing strengths in drug development for related diseases.
Read the Press Release
A gene therapy for LGMD2L
The LGMD2L Foundation funded the development of a new mouse model for ANO5 related disease. This model will provide new ways to test treatments being developed for LGMD2L. The project is underway at Virginia Commonwealth University.
Foundation board member Axel Kruger funded a project at Université Paris-Est Créteil to examine how existing compounds used in medicine affect the muscles of LGMD2L patients. The work derives small muscle-like organoids from patient cells and exposes them to a large number of compounds to screen for repurposing potential.
Repurposing existing treatments
This strategy allows us to build a foundation for progress, empower scientists, and foster innovation, laying the groundwork for transformative solutions in the future.
Allocate resources to the most impactful studies through competitive grants and a rigorous review process to ensure alignment with our mission.
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Collaborate with pharmaceutical companies to provide the data and research tools needed to develop potential treatments, including novel drugs and repurposing those developed for other conditions.
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Partner with public institutions to co fund research projects that drive meaningful scientific discovery.
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Directly contract private medical research labs to execute the basic research that will enable public institutions and pharma companies to work on LGMD2L.
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Our approach to funding research is rooted in strategic collaboration and careful prioritization to maximize impact. By building partnerships, identifying critical needs, and fostering sustainability, we ensure every dollar goes further in advancing the understanding and treatment of LGMD2L. Below are the key strategies that guide our funding efforts:
How do we fund research?
The LGMD2L Foundation is committed to advancing scientific discovery and improving outcomes for those affected by this rare disease. By building a strong foundation of knowledge and resources, we empower researchers and clinicians. Our key priorities include:
What research are we funding?
Conducting the largest natural history study of LGMD2L to date, capturing a detailed view of disease progression and creating a robust dataset that will drive impactful research and future treatment strategies.
Expanding Natural History Studies
Supporting projects at public and private institutions that focus on developing advanced disease models and essential resources, providing a foundation for innovative therapies and scientific collaboration.
Funding Foundational Research
Evaluating existing drugs to identify potential treatments for LGMD2L, accelerating the discovery of therapeutic options that could benefit patients without the delays of traditional drug development.
Screening for Drug Repurposing
Delving into the underlying mechanisms of LGMD2L to uncover critical insights about how the disease develops and progresses, offering a roadmap for researchers to design targeted therapeutic interventions.
Unraveling Pathophysiology
Partnering with pharmaceutical companies to expand the use of approved drugs for related neuromuscular diseases, ensuring that any relevant advances in treatment are accessible to LGMD2L patients.
Collaborating with Pharma
Investigating cutting-edge therapies, such as gene therapy and exon-skipping approaches, bringing innovative, precision targeted solutions closer to reality for LGMD2L.
Exploring Novel Treatments
The LGMD2L Foundation is committed to fostering innovation and collaboration. We are actively seeking researchers and institutions that are working on novel approaches to better understand the disease and develop treatments.
How can researchers collaborate with us?
If you would like to collaborate with us or explore funding opportunities, we would love to hear from you. Reach out to us directly at LGMD2LFoundation@gmail.com to discuss potential partnerships and funding options. Funding grants are issued on a rolling basis and reviewed by our medical advisory board. Please contact us for our latest funding priorities. We do not cover grant recipients' indirect costs.
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