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Withdrawn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