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Table 3 A partial list of completed or ongoing NCL clinical trialsa

From: Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses

NCL-related proteins Natural History/ Treatment National Clinical Trial Number Study Location Status Phase
CLN1 Single Group Assignment, Procedure: Surgery to implant human CNS stem cells, single dose
Drug: Immunosuppression for 12 months post transplant
NCT00337636 Oregon Health and Science University
StemCells, Inc.
Completed Phase 1
Single Group Assignment, Interventional, Small Molecule, Cystagon and N-acetylcysteine NCT00028262 NICHDd/NIH Completed Phase 4
CLN2 Single Group Assignment, Biological, ERT (BMN-190 [recombinant human tripeptidyl peptidase-a (rhTPP1/cerliponase alfa)]), 30-300 mg ICV infusion administered every other week for at least 48 weeks NCT01907087 NCHb
University Hamburg-Eppendorf
Guy’s St & Thomas NHS Foundation Trust
Hospital for NHS Foundation Trust
BioMarin Pharmaceutical
Completed Phase 1/2
Parallel Assignment, Biological, AAVrh.10CUhCLN2 (either 9.0 × 10^11 or 2.85 × 10^11 genome copies) NCT01414985 WCMCc Active, not recruiting Phase 1&2
Parallel Assignment, Genetic: AAVrh.10CUhCLN2 (either 9.0 × 10^11 or 2.85 × 10^11 genome copies) NCT01161576 WCMC Active, not recruiting Phase 1
Parallel Assignment, Genetic: AAV2CUhCLN2 (3 × 10^12 particle units) NCT00151216 WCMC Active, not recruiting Phase 1
Observational, Case-Only NCT01035424 WCMC Active, not recruiting N/A
Single Group Assignment, Biological: BMN-190, 300 mg ICV infusion administered every other week for up to 240 weeks
Device: Intraventricular access device, surgical implantation of an MRI compatible ICV access device in the lateral ventricle of the right hemisphere
NCT02485899 Columbus, Ohio, United States
Hamburg, Germany
Rome, Italy
London, United Kingdom
BioMarin Pharmaceutical
Active, not recruiting Phase 1/2
Single Group Assignment, Biological: BMN-190 & recombinant human tripeptidyl peptidase-1 (rhTPP1), an age-appropriate dose of BMN 190 administered via intracerebroventricular (ICV) infusion every other week (qow) for a duration of 144 weeks
Device: Intraventricular access device, surgical implantation of an MRI compatible ICV access device in the lateral ventricle of the right hemisphere
NCT02678689 Columbus, Ohio, United States
Hamburg, Germany
Rome, Italy
London, United Kingdom
BioMarin Pharmaceutical
Enrolling by invitation Phase 2
Observational, Natural History, Primary Outcome: correlation analysis between genotype (genetic constitution) and baseline [time frame: 18 months] NCT00151268 WCMC Completed N/A
Single Group Assignment, Procedure: Surgery to implant human CNS stem cells (HuCNS-SC)
Drug: Medication to suppress the immune system for 12 months post transplant
NCT00337636 Oregon Health and Science University
StemCells, Inc.
Completed Phase 1
CLN3 Crossover Assignment, Drug: Small Molecule (Mycophenolate mofetil) NCT01399047 University of Rochester Completed Phase 2
Natural History, Cohort NCT03307304 NICHD/ NIH Recruiting  
CLN6 Observational/Natural History, Primary Outcome: disease progression [time frame: 3 years] NCT03285425 NCH Recruiting N/A
Single Group Assignment, Gene Therapy, Drug:scAVV9.CB.CLN6 administered by intrathecal injection NCT02725580 NCH Recruiting Phase 1/2
General Batten Disease Observational [Patient Registry], Cohort,
Primary Outcome measures: Refinement and validation of UBDRS, The natural history of Batten Disease [both time frames:10 years]
NCT01873924 University of Rochester Recruiting N/A
Observational, Cross-Sectional Primary Outcome measure: sleep disturbance
Secondary Outcome measure: epilepsy onset, Blindness [both time frames: 1 year]
NCT01966757 NCH Completed N/A
  1. aFor a complete list of clinical trials go to: https://Clinicaltrials.gov
  2. bNCH, Nationwide Children’s Hospital
  3. cWCMC,Weill College of Medicine, Cornell University
  4. dNICHD, National Institute of Child Health and Human Development, NIH, National Institutes of Health