Together for Short Lives
Call the Helpline 0808 8088 100

Experimental gene therapies for the NCLs

Journal title
Biochimica et biophysica acta. Molecular basis of disease
Publication year
2020
Author(s)
Liu, W.; Kleine-Holthaus, S. M.; Herranz-Martin, S.; Aristorena, M.; Mole, S. E.; Smith, A. J.; Ali, R. R.; Rahim, A. A.
Pages
165772
Volume
1866
Number
9

The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of rare monogenic neurodegenerative diseases predominantly affecting children. All NCLs are lethal and incurable and only one has an approved treatment available. To date, 13 NCL subtypes (CLN1-8, CLN10-14) have been identified, based on the particular disease-causing defective gene. The exact functions of NCL proteins and the pathological mechanisms underlying the diseases are still unclear. However, gene therapy has emerged as an attractive therapeutic strategy for this group of conditions. Here we provide a short review discussing updates on the current gene therapy studies for the NCLs.

Research abstracts