Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis

Table 1 Past and present NCL clinical trials. Currently, there are only eight NCL clinical trials in existence (clinicaltrials.gov). Most of the trials focus on the treatment of either INCL or LINCL

Trial ID	NCL Form(s)	Therapeutic Approach	Proposed Mechanism of Action	Preclinical Studies	Trial Phase
NCT01399047	JNCL	Anti-inflammatory Mycophenolate mofetil	Reduction in neuroinflammation and production of autoantibodies	Seehafer 2011 [144]	Recruiting
NCT01161576	LINCL	Gene Therapy AAVrh.10CUhCLN2	Genetically engineer cells to produce non-mutated TPP1	Sondhi 2007 [41], Sondhi 2008, Sondhi 2012	Recruiting
NCT01414985	LINCL	Gene Therapy AAVrh.10CUhCLN2	Genetically engineer cells to produce non-mutated TPP1	Sondhi 2007 [41], Sondhi 2008 [42], Sondhi 2012 [43]	Recruiting
NCT01907087	LINCL	ERT BMN-190	Source of recombinant functional TPP1 in which diseased cell can uptake and utilize	Vuillemenot 2014 [58], Vuillemenot 2014 [59]	Active
NCT00151216	LINCL	Gene Therapy AAV2CUhCLN2	Genetically engineer cells to produce non-mutated TPP1	Sondhi 2005 [39], Passini 2006 [40]	Active
NCT00337636	INCL, LINCL	Stem Cell Human CNS Stem cells	Similar to ERT but, human CNS stem cells act as the source of functional PPT1 and TPP1	Tamaki 2009 [85]	Complete
NCT00028262	INCL	Small Molecule Cystagon	Clears lysosome of storage material	Zhang 2001 [174]	Complete
NCT01238315	INCL, LINCL	Stem Cell Human CNS Stem cells	Similar to ERT but, human CNS stem cells act the source of functional PPT1 and TPP1	Tamaki 2009 [85], Selden 2013 [91]	Withdrawn