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to ERT but, human CNS stem cells act the source of functional PPT1 and TPP1 | Tamaki 2009 [85], Selden 2013 [91] | Withdrawn |