Table 3 A partial list of completed or ongoing NCL clinical trials^a

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

NICHD^d/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

NCH^b

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

WCMC^c

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