According to the National Institutes of Health, there are roughly 7,000 rare diseases and that number continues to rise as new diseases are discovered. While we are all familiar with Alzheimer’s, cancer, and heart disease.
Today we take a closer look at a more unfamiliar disease – a neurological genetic disorder called Canavan disease.
Canavan Disease: Unpacking the Basics
What exactly is Canavan Disease?
Canavan disease is a genetic brain disorder caused by a mutation in the aspartoacylase (ASPA) gene. ASPA is responsible for producing an enzyme called aspartoacylase (ASPA) that plays an essential role in breaking down a neurochemical called N-acetylaspartate.
The lack of normal aspatoacylase expression creates a buildup of NAA that negatively impacts brain bioenergetics and development.
The mutation in the ASPA gene occurs in the oligodendrocyte, which is a brain cell responsible for producing myelin, the protective layer around the axons that allows for the conduction of electrical impulses and information between neurons.
In Canavan disease, myelin production is disrupted which leads to the progressive loss of nerve function and symptoms such as developmental delays, weak muscle tone, and a loss of motor function.
When Does Canavan Disease Occur?
Canavan disease occurs in infancy and for the first few months, the child can appear normal. It is not until the age of three to five months developmental problems will begin to become noticeable. Here is a list of some early Canavan disease signs to look out for as a parent or caregiver:
- Inability to roll, sit up or crawl
- Poor muscle tone
- Poor visual tracking and/or nystagmus
- Trouble feeding and swallowing
- Enlarged head size
- Seizures
- Excessive irritability
Is There A Cure For Canavan Disease?
Unfortunately, there is no cure for Canavan disease. However, scientists and research labs have been investing in new cutting-edge technologies that aim to improve patients’ lives.
Myrtelle, a biotech lead program in Canavan disease, is conducting gene therapy clinical trials that have offered encouraging results. that are providing hope for a potential cure in the future.
Advancing Technologies for Targeted Gene Delivery to Myelin-Generating Cells
Myrtelle is leading the way in advancing proprietary technologies that optimize the delivery of genes to myelin-generating cells, paving the path for innovative approaches to address the diverse needs of numerous disorders involving myelin.
Through groundbreaking advancements, Myrtelle is revolutionizing the field by precisely targeting and delivering genes to the cells responsible for myelin generation.
This pioneering work holds immense promise in offering transformative solutions for a wide range of conditions linked to myelin, representing a significant step forward in providing tailored treatments to thousands of patients.
By focusing on optimizing gene delivery to myelin-generating cells, Myrtelle aims to make a substantial impact on the treatment landscape of various myelin-related disorders.
Clinical trials are the crux of any established and viable body of scientific research and discovery. Here we take a look at Myrtelle’s Canavan disease clinical trial that is yielding insightful results.
Canavan Disease Clinical Trials
Myrtelle has been utilizing its proprietary technologies as mentioned before with its clinical trial for gene therapy targeting Canavan disease. The therapy involves delivering a functioning ASPA gene to oligodendrocytes via intracerebroventricular (ICV) delivery.
The primary objective is to assess the therapy’s safety and tolerability, while secondary objectives include evaluating its efficacy through various measures such as the Gross Motor Function Measure (GMFM) and Mullen Scales of Early Learning (MSEL).
The trial is intended to generate data for regulatory filings and is not currently offering expanded access or compassionate use outside of the clinical trial. Myrtelle welcomes inquiries from eligible patients for participation in their ongoing trial.
Hope on The Horizon
The Canavan disease can significantly impact the lives of those affected and their families. Getting diagnosed with the disease is just the beginning but living with the disease day in and day out requires attention, education, and care.
However, there is glimmering hope with the development of gene therapy and other treatments being explored through clinical trials.
These advancements offer promising possibilities for improving the lives of patients with Canavan disease, and while there is still much work to be done, the progress being made brings a sense of optimism for a better future.
As research continues and more treatments are developed, we can look forward to a world where those affected by Canavan disease can live happier, healthier lives and hopefully one day be cured.
