Skip to main content

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

From: Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis

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Similar to ERT but, human CNS stem cells act the source of functional PPT1 and TPP1 Tamaki 2009 [85], Selden 2013 [91] Withdrawn
  1. Bold words indicate the therapeutic approach