Tim Miller, PhD, CEO, President, and Co-Founder of Forge Biologics, gives an overview of Krabbe disease.
As Dr. Miller explains, Krabbe disease is a neurodegenerative disorder caused by a deficiency of galactosylceramidase. Deficiency of this enzyme impairs the growth and maintenance of myelin. As such, Krabbe is part of the group of disorders known as leukodystrophies. This disorder is also characterized by the abnormal presence of globoid cells.
In the infantile and early infantile forms, symptoms of Krabbe disease begin before the age of 1 year. Initial signs and symptoms typically include:
- Muscle weakness
- Feeding difficulties
- Episodes of fever without any sign of infection
- Stiff posture
- Slowed mental and physical development.
As the disease progresses, muscles continue to weaken, affecting the infant’s ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and seizures.
Currently, management for Krabbe involves supportive and palliative care. Dr. Miller mentions that Forge Biologics is currently working on a combination therapy for the treatment of Krabbe, the details of which can be seen here. However, Dr. Miller also asserts that newborn screening is currently the best strategy as it leads to early intervention which prevents the child from being denied a bone marrow transplant due to lack of survivability and improves chances of survival using other management strategies.
To learn more about Krabbe disease and other rare neurological disorders, visit checkrare.com/diseases/neurology