Canavan disease is a rare, inherited neurological disorder that primarily affects the brain’s development and function. This severe condition belongs to a group of disorders known as leukodystrophies, which involve the degeneration of myelin—the protective sheath surrounding nerve fibers in the brain. We delve into the causes of Canavan disease and dissect its genetic roots, and the mechanism by which it affects individuals.

The Genetic Cause

At the heart of Canavan disease is a genetic mutation affecting the ASPA gene. The ASPA gene is responsible for producing the enzyme aspartoacylase, which plays a critical role in the normal functioning of the brain. Aspartoacylase is involved in the breakdown of N-acetylaspartate (NAA), a compound found in the brain. In individuals with Canavan disease, mutations in the ASPA gene lead to deficient or non-functional aspartoacylase enzymes, resulting in the accumulation of NAA in the brain.

How the Mutation Leads to Disease

Due to the ASPA mutation NAA accumulates in the brain causing  long-term negative effects on the brain’s white matter, which then leads to the deterioration of myelin. Myelin is essential for the proper transmission of nerve signals; thereby disrupting communication between the brain and other parts of the body. This disruption in neural communication is responsible for the symptoms and developmental delays associated with Canavan disease.

The Role of Inheritance Pattern

Canavan disease is inherited in an autosomal recessive pattern, which means that a child must inherit two copies of the mutated gene, one from each parent, to develop the disease. Parents who each carry one copy of the mutated gene are referred to as carriers. While carriers do not show symptoms of the disease, they have a 25% chance with each pregnancy of passing the two mutated genes to their child, leading to Canavan disease.

Canavan disease is a genetic disorder with profound implications for affected families, highlighting the importance of genetic counseling and testing for at-risk couples. Understanding the autosomal recessive inheritance pattern of Canavan disease empowers parents to make informed decisions about family planning. While the journey with Canavan disease is challenging, advancements in research and supportive care continue to improve the quality of life for those affected. As the medical community strives for breakthroughs in treatment, the resilience of families and patients shines as a beacon of hope in the face of this rare condition.

Symptoms and Diagnosis

Symptoms of Canavan disease typically appear in early infancy and may include developmental delay, lack of head control, reduced muscle tone (hypotonia), and feeding difficulties, among others. As the disease progresses, symptoms may worsen, leading to more severe neurological impairment. Diagnosis is usually made through genetic testing, which can identify mutations in the ASPA gene, and biochemical tests that measure the levels of NAA in urine. Here are some of the key symptoms to spot early signs of Canavan disease:

• Developmental delay
• Lack of head control
• Reduced muscle tone (hypotonia)
• Feeding difficulties

It is crucial for medical professionals and parents alike to be well-informed about the symptoms of Canavan disease in order to facilitate early diagnosis and intervention.

Myrtelle’s Mission

At Myrtelle, our mission is deeply rooted in the understanding and addressing of neurological disorders affecting the white matter in the brain, with our lead program in Canavan disease. We recognize that uncovering the genetic underpinnings of Canavan disease is not just an academic pursuit but a crucial step towards making meaningful differences in the lives of those affected by this condition. While it’s true that there is no cure for Canavan disease at present, our commitment to pushing the boundaries of medical science through innovative research and clinical trials embodies our hope and dedication to finding effective treatments.

Our approach leverages the power of gene therapy, among other advanced therapeutic strategies, to target the disease at its genetic core. By correcting the underlying genetic mutations that lead to Canavan disease, we aim to halt or even reverse the progression of the disease. Our clinical trials are meticulously designed to evaluate the safety and efficacy of these groundbreaking treatments, with the ultimate goal of not only extending life but also enhancing the quality of life for individuals with Canavan disease.