Dawn Laney, MS, Genetic Counselor at Emory University School of Medicine, discusses the importance of newborn screening and the need for more effective treatments in infantile Krabbe disease.
Krabbe disease is a lysosomal disorder that affects the entire body, but most noticeably the nervous system. There are several types of Krabbe disease that differ based on the age of symptom development. Symptoms of infantile Krabbe disease may include irritability, failure to thrive, slowed development, and unexplained fevers. Other symptoms include progressive muscle weakness, hearing and vision loss, and decreased movement. Symptoms of the later-onset types of Krabbe disease may include muscle weakness and stiffness, loss of milestones, blindness, behavior problems, dementia, and seizures. Krabbe disease is caused by genetic variants in the GALC gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and may be confirmed by the results of genetic testing.
Currently, the only treatment option for infantile Krabbe disease is stem-cell transplant if diagnosed before the presentation of significant symptoms. However, this transplant can only help slow the progression of disease, it cannot repair damage already caused by the disease. Additionally, as Ms. Laney explains, this treatment is associated with high morbidity and mortality.
Newborn screening Krabbe disease is crucial and early diagnosis can help patients and families receive the necessary treatment before significant presentation of symptoms. This also gives families more time to cope with such a difficult diagnosis and choose whether or not to treat with stem-cell transplantation.
In Georgia, three babies have been identified with infantile Krabbe disease through newborn screening. The first family chose no transplant and the patient passed away with a normal course of disease at 5 months from Krabbe disease complications. The second and third families opted for transplant; one patient is doing well and one passed away from complications following the transplant. This variability in treatment outcomes highlights the necessity for better treatment options for this disease
Ms. Laney explains current research looking into the potential of gene therapies and lower immune modulation protocols that may help lessen morbidity and mortality rates in transplantation, as well as provide better outcomes for patients. Additionally, the creation of a patient registry is helping physicians and researchers better understand the natural history of disease and patient experiences.
For more information on Krabbe disease and resources, visit Krabbe Connect.
To learn more about Krabbe disease and other rare metabolic conditions, visit https://checkrare.com/diseases/metabolic-disorders/
