Table IV.
Human Clinical Trials for Neuronal Ceroid Lipofuscinoses (Clinical studies, Phases 1–4)1
| NCL/Study Title | Treatment | Phase | Number enrolled | Status | Number2 |
|---|---|---|---|---|---|
| All CLN types | |||||
| Stem Cell Transplant for Inborn Errors of Metabolism | Stem Cell Transplant | Phase 2/3 | 135 | Completed (Has Results) | NCT00176904 |
| Human Placental-Derived Stem Cell Transplantation | Human Placental Derived Stem Cell | Phase 1 | 43 | Active, not recruiting | NCT01586455 |
| UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells | UCB-derived oligodendrocyte-like cells | Phase 1 | 12 | Recruiting | NCT02254863 |
| CLN1 | |||||
| Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis | Cystagon and N-acetylcysteine (oral, daily) | Phase 4 | 10 | Completed227 | NCT00028262 |
| Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) | Human CNS stem cells (HuCNS-SC) | Phase 1 | 6 | Completed | NCT00337636 |
| Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis | Human CNS stem cells (HuCNS-SC) | Phase 1b | 0 | Withdrawn | NCT01238315 |
| CLN2 | |||||
| Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis | AAV2CUhCLN2 (3×1012 particle units) | Phase 1 | 10 | Active, not recruiting | NCT00151216 |
| Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) | Human CNS stem cells (HuCNS-SC) | Phase 1 | 6 | Completed | NCT00337636 |
| Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) | AAVrh.10CUhCLN2 (9.0×1011 or 2.85×1011 genome copies) | Phase 1 | 25 | Active, not recruiting | NCT01161576 |
| Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis | Human CNS stem cells (HuCNS-SC) | Phase 1b | 0 | Withdrawn | NCT01238315 |
| AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis | AAVrh.10CUhCLN2 | Phase 1/2 | 8 | Active, not recruiting | NCT01414985 |
| A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease | BMN 190 (rhTPP1); ERT via ICV infusion | Phase 1/2 | 24 | Completed (Has Results) | NCT01907087 |
| A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease | BMN 190 (rhTPP1); ERT via ICV infusion | Phase 1/2 | 23 | Active, not recruiting | NCT02485899 |
| A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease | BMN 190 (rhTPP1); ERT via ICV infusion | Phase 2 | 15 | Enrolling by invitation | NCT02678689 |
| CLN3 | |||||
| CellCept® for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis | Mycophenolate mofetil (CellCept®) | Phase 2 | 19 | Completed | NCT01399047 |
| Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9 | scAAV9-CLN3 | Phase 1/2 | 7 | Recruiting | NCT03770572 |
| CLN6 | |||||
| Batten CLN6 Gene Therapy | scAAV9.CB.CLN6 | Phase 1/2 | 12 | Recruiting | NCT02725580 |
1
Abbreviations: enzyme replacement therapy (ERT); recombinant human tripeptidyl peptidase-1 (rhTPP1); adeno-associated virus (AAV); umbilical cord blood (UCB); neuronal ceroid lipofuscinosis (NCL); late infantile neuronal ceroid lipofuscinosis (LINCL).
2
Clinical identifier numbers obtained from ClinicalTrials.gov website.