Management

Unfortunately, there is no approved therapy for NCL8, regardless of the clinical subtype. As a result, the disease progresses, being fatal in most cases. There is some, however, slight advancement in enzyme replacement therapies. For example, FDA approved Cerliponase alpha in 2017 as a treatment for NCL2 patients.

Worth noting is also a study that reported using a mouse model of CLN8disease (it means that mouse was born without both copies of the CLN8gene to replicate the course of the disease). Then researchers used a specially prepared virus to deliver functional copies of the CLN8gene to mouse’s brain cells. The intervention was well tolerated and restored the lifespan of disease-affected mice from 10 months to 24. This successful attempt support the further development of gene therapy for NCL8.

Due to the lack of causal treatment, NCL8 patients should be treated symptomatically per current standards. Thus, patients should be under the constant care of a neurologist and pediatrician.

Occasional MRI of the head may be scheduled to assess the progression of cerebellar degeneration or to diagnose one. Additionally, visual acuity should be monitored and the fundus should be reassessed periodically (see more in Clinical Characteristics).