Strategic $7.65 Million Collaboration Aims to Accelerate Development of a Novel ANO5 Gene Replacement Therapy Toward Clinical Trials
Cure Rare Disease (CRD), a nonprofit biotechnology organization dedicated to developing treatments for individuals with rare genetic disorders, today announced a landmark, multi-year partnership with the LGMD2L Foundation. The collaboration is supported by a $7.65 million funding commitment from the LGMD2L Foundation and is aimed at advancing a novel gene replacement therapy for individuals living with Anoctamin 5 (ANO5)-related disease, a rare and progressive genetic neuromuscular disorder.
This transformative partnership establishes a comprehensive development program designed to take a potential therapy from early-stage design through clinical trial readiness. The initiative reflects a shared determination to accelerate therapeutic innovation in a disease area that has historically received limited commercial investment and limited treatment options.
Advancing a Potential Therapy for ANO5-Related Disease
Anoctamin 5-related disease, commonly associated with limb-girdle muscular dystrophy type 2L (LGMD2L), is caused by mutations in the ANO5 gene. These mutations lead to progressive muscle weakness, muscle damage, and reduced quality of life. Patients often experience gradual deterioration of skeletal muscle function, particularly affecting the hips and shoulders, which can significantly impair mobility and independence over time.
Currently, there are no approved disease-modifying therapies specifically targeting ANO5-related conditions. Standard care typically focuses on managing symptoms, physical therapy, and supportive interventions. The absence of targeted treatments underscores the urgent need for innovative therapeutic strategies that address the underlying genetic cause of the disease.
The partnership between Cure Rare Disease and the LGMD2L Foundation seeks to meet this unmet medical need by developing a gene replacement therapy designed to restore functional ANO5 protein expression in affected muscle cells. By delivering a healthy copy of the ANO5 gene, the therapy aims to correct the root cause of the disorder rather than simply alleviating symptoms.
A Multi-Year Development Program
The $7.65 million investment will fund a structured, milestone-driven program spanning multiple years. The initiative will encompass all critical stages required to bring a gene therapy candidate to the threshold of human clinical testing.
Key components of the program include:
- Therapeutic Design and Optimization: Scientists will design and engineer a gene replacement construct tailored to effectively deliver and express the ANO5 gene in muscle tissue.
- Preclinical Evaluation: Rigorous laboratory and animal studies will assess safety, biodistribution, durability of gene expression, and preliminary efficacy.
- Manufacturing Scale-Up: Development of scalable manufacturing processes will ensure that the therapy can be produced under Good Manufacturing Practice (GMP) standards suitable for clinical use.
- Regulatory Preparation: Comprehensive documentation and regulatory engagement will be conducted to support an Investigational New Drug (IND) application.
- First-in-Human Clinical Trial Readiness: The ultimate goal is to initiate a first-in-human clinical study evaluating safety and early efficacy signals in patients.
By supporting this end-to-end pathway, the LGMD2L Foundation is directly enabling the translation of scientific innovation into a potential therapeutic reality.
Leveraging a Next-Generation AAV Platform
The ANO5 gene therapy candidate will utilize a next-generation adeno-associated virus (AAV) capsid platform developed by Cure Rare Disease. AAV vectors are widely used in gene therapy because of their ability to deliver genetic material into cells with relatively low immunogenicity.
CRD’s platform includes an advanced AAV capsid engineered to enhance tissue targeting and potentially improve safety compared to earlier-generation vectors. This common capsid backbone is being applied across multiple neuromuscular gene therapy programs within the organization’s pipeline, enabling efficiencies in development and regulatory strategy.
In addition to the ANO5 program, Cure Rare Disease is advancing gene replacement therapeutics targeting other forms of limb-girdle muscular dystrophy, including LGMD2i/R9 and LGMD2g/R7. The use of a shared next-generation capsid may streamline development timelines and provide a scalable foundation for addressing multiple rare neuromuscular conditions.
The Power of Collaboration Between Nonprofits and Advocacy Groups
The partnership represents a growing trend in rare disease drug development: direct collaboration between patient-led advocacy organizations and specialized biotechnology innovators. In many rare conditions, limited patient populations and high development costs can deter traditional pharmaceutical investment. As a result, advocacy foundations are increasingly stepping forward to catalyze therapeutic progress.
Rich Horgan, CEO of Cure Rare Disease, emphasized the importance of this collaborative model in accelerating development timelines and aligning scientific priorities with patient needs.
“This partnership with the LGMD2L Foundation is a testament to the power of collaboration between drug development organizations and advocacy groups in the fight against rare diseases,” Horgan said. “This significant funding allows us to deploy our drug development engine to accelerate a promising gene therapy for the LGMD2L community. We are deeply grateful for the LGMD2L Foundation’s trust and commitment as we work together to bring a treatment to patients living with LGMD2L and their families.”
The LGMD2L Foundation’s leadership echoed this sentiment, highlighting both the urgency of therapeutic development and the strategic value of working with an experienced gene therapy organization.
Hal Tily, Vice President of Research for the LGMD2L Foundation, underscored the importance of taking decisive action in an area where few private-sector initiatives are currently underway.
“Gene therapy is the most promising therapeutic avenue for this devastating disease, yet no private-sector programs are currently advancing this approach,” Tily said. “This partnership marks a pivotal moment for patient-led organizations in shaping their own futures. CRD’s track record navigating the complexities of therapeutic development gives us strong confidence that this investment can change the lives of individuals and families affected by LGMD2L.”
Addressing an Overlooked Community
ANO5-related disease is part of a broader category of limb-girdle muscular dystrophies (LGMDs), a heterogeneous group of inherited muscle disorders. Despite advances in genetic diagnosis, many LGMD subtypes remain without targeted treatments. Patients and families often face uncertainty, limited clinical trial options, and a lack of disease-specific therapeutic research.
By committing substantial funding to a focused development program, the LGMD2L Foundation is helping to address this gap. The initiative not only accelerates potential therapeutic progress but also demonstrates how patient-driven organizations can influence the direction of biomedical innovation.
The collaboration also highlights the evolving role of nonprofit biotechnology organizations like Cure Rare Disease. By specializing in rare and ultra-rare genetic disorders, CRD aims to build adaptable platforms that can be customized for small patient populations often overlooked by traditional drug development models.
A Shared Mission for Rare Disease Innovation
At its core, the partnership reflects a shared mission: to streamline the development of treatments for rare diseases that lack sufficient commercial incentives. Both organizations recognize that innovative funding models and collaborative frameworks are essential to overcoming structural barriers in rare disease research.
Through strategic resource allocation, scientific expertise, and patient community engagement, the program aims to create a clear path from laboratory discovery to clinical evaluation. While significant work remains before a therapy can reach patients, the announcement signals tangible momentum in a field where progress can often be slow.
The multi-year nature of the collaboration provides stability and continuity, enabling sustained research efforts rather than fragmented, short-term initiatives. This long-range commitment increases the likelihood of successfully navigating the complex regulatory and manufacturing challenges inherent to gene therapy development.
Looking Ahead
As the program advances, Cure Rare Disease and the LGMD2L Foundation will work closely to monitor milestones, engage with regulatory authorities, and maintain transparency with the patient community. If successful, the initiative could serve as a blueprint for similar partnerships targeting other rare genetic disorders.
For individuals and families affected by ANO5-related disease, the announcement represents more than a financial commitment—it offers renewed hope that a disease-modifying treatment may one day become available.
By combining philanthropic investment, scientific innovation, and patient advocacy, this collaboration seeks to redefine what is possible in rare disease therapeutics. Together, Cure Rare Disease and the LGMD2L Foundation are taking meaningful steps toward delivering a gene therapy that addresses the underlying cause of ANO5-related disease and moves the field closer to a future where rare conditions are no longer neglected.
About Cure Rare Disease
Cure Rare Disease (CRD) is a nonprofit biotechnology company focused on developing genetic medicines for rare and ultra-rare diseases. CRD is committed to accelerating the development of treatments for individuals with rare diseases through a patient-centric approach to research and development. The company’s programs include gene therapy and antisense oligonucleotide (ASO) treatments for a range of rare diseases
About LGMD2L Foundation
The LGMD2L Foundation was established in 2018 to unite people afflicted by this rare disease, raise awareness, and provide a forum to connect, discuss, and build community. In 2024, the organization expanded its scope to begin actively funding research towards treatments. Its mission is to work together as a community to improve the lives of those affected by LGMD2L, accelerate the development of effective treatments, and ultimately find a cure.
