Cystagon
In 2001, a drug used to treat cystinosis, a rare genetic disease that can cause kidney failure if not treated, was reported to be  useful in treating the infantile form of NCL. Preliminary results report the drug has completely cleared away storage material from the white blood cells of the first six patients, as well as slowing down the rapid neurodegeneration of infantile NCL.Currently, two drug trials are underway for infantile NCL, both using Cystagon. Gene therapy
A gene therapy trial using an adenoassociated virus vector called AAV2CUhCLN2 began in June 2004 in an attempt to treat the manifestations of late infantile NCL. The trial was conducted by Weill Medical College of Cornell University and sponsored by the Nathans Battle Foundation. In May 2008,  the gene therapy given to the recipients reportedly was "safe, and that, on average, it significantly slowed the diseases progression during the 18-month follow-up period" and "suggested that higher doses and a better delivery system may provide greater benefit".A second gene therapy trial for late infantile NCL using an adenoassociated virus derived from the rhesus macaque (a species of Old World monkey) called AAVrh.10 began in August 2010, and is once again being conducted by Weill Medical College of Cornell University.
Simultaneously, Terry and Korey and Svennerholm demonstrated a specific ultrastructure and biochemistry for Tay–Sachs disease, and these developments led to the distinct identification and also separation of the NCLs from Tay–Sachs disease by Zeman and Donahue. At that time, it was proposed that the late-infantile (Jansky–Bielschowsky), the juvenile (Spielmeyer–Vogt), and the adult form (Kufs) were quite different from Tay–Sachs disease with respect to chemical pathology and ultrastructure and also different from other forms of sphingolipidoses.Subsequently,  Santavuori and Haltia showed that an infantile form of NCL exists, which Zeman and Dyken had included with the Jansky Bielschowsky type. References
External links
GeneReviews/NCBI/NIH/UW entry on Neuronal ceroid-Lipofuscinosis