Canavan disease, a rare and devastating white matter disease, has long presented a formidable challenge to the medical community. Characterized by progressive neurological deterioration, it primarily affects young children, leaving families with limited therapeutic options. However, a compelling narrative of patient advocacy and scientific collaboration emerged in the early 2000s from Westport, Connecticut, in the form of Jacob’s Cure. This non-profit organization was formed by the families who supported the research and generated awareness of Canavan disease that led the path to Myrtelle. This story starts with real people who want to make a real impact in the fight for Canavan disease research.
Understanding Canavan Disease: A Foundation for Innovation
Canavan disease is an autosomal recessive disorder caused by mutations in the ASPA gene. This gene encodes aspartoacylase, an enzyme crucial for the metabolism of N-acetyl aspartate (NAA). Deficiency of aspartoacylase leads to the accumulation of NAA in the brain, resulting in demyelination and progressive neurological dysfunction. Clinically, this manifests as developmental delays, hypotonia, macrocephaly, and ultimately, severe cognitive and motor impairments.
The absence of effective treatments for Canavan disease underscores the urgent need for innovative therapeutic strategies. Gene therapy, with its potential to address the underlying genetic defect, has emerged as a promising avenue.
Jacob’s Cure: Catalyzing Research and Advocacy
Jacob’s Cure, a nonprofit foundation founded by the Holovach family, directly affected by Canavan disease, played a pivotal role in advancing research efforts. The beginning of the foundation saw many individuals, such as Andi Sklar, Jordana Holovach, and many other volunteers in the Westport, CT community, come together to support, manage, and drive funds to the Jacob’s Cure Foundation. The foundation’s mission was to raise funds for research into gene therapy and treatments for Canavan disease. After years of outreach, the foundation’s efforts extended beyond fundraising, encompassing active engagement with the scientific community. By developing collaborations with researchers and clinicians, Jacob’s Cure was the first major step in getting Canavan disease the awareness it deserved within the scientific community. Over time, Myrtelle became the place where the translation of basic science discoveries turned into clinically relevant applications.
Myrtelle is a patient-centered, innovation-driven gene therapy company with a mission to develop and deliver novel treatments for devastating myelin-based disorders, such as Canavan disease, of the central nervous system for which few, if any, treatment options exist. This multifaceted approach created a fertile ground for the development of novel therapeutic strategies.
Myrtelle: Translating Research into Clinical Reality
Myrtelle was established to accelerate the development of gene therapies for Canavan disease and other neurological disorders. Myrtelle’s team is composed of experts in gene therapy, drug development, and rare diseases, bringing decades of experience to the endeavor.
Myrtelle’s scientific advisors, drawn from prestigious institutions such as MIT, Harvard, Eli Lilly, GlaxoSmithKline, and Rowan University, provide invaluable guidance in the development of gene therapies and clinical trial design. The company’s approach centers on delivering functional copies of the ASPA gene to the brain using adeno-associated virus (AAV) vectors. This strategy aims to restore aspartoacylase activity and promote remyelination, thereby halting or reversing the progression of Canavan disease.
Gene Therapy for Canavan Disease: Mechanisms and Clinical Potential
The rationale for gene therapy in Canavan disease is grounded in the ability to correct the underlying genetic defect. AAV vectors, which are non-pathogenic and capable of transducing neural cells, offer a safe and effective means of delivering the therapeutic gene. By restoring aspartoacylase activity, gene therapy has the potential to reduce NAA accumulation, promote remyelination, and improve neurological function.
The Broader Implications for Neurological Disorders
The advancements made in Canavan disease research have broader implications for the treatment of other neurological disorders. Gene therapy holds immense potential for addressing a wide range of genetic diseases affecting the central nervous system. The collaborative model exemplified by Jacob’s Cure and now Myrtelle underscores the importance of patient advocacy, scientific collaboration, and translational research in advancing medical innovation.
As gene therapy continues to evolve, it is poised to transform the landscape of neurological disease treatment. The journey from patient advocacy to clinical trials highlights the power of collaboration and the unwavering pursuit of medical breakthroughs.
