| NCT05431127
| High Dose Inspiratory Muscle Training in LOPD | No drug interventions | supportive_care | Not Available | recruiting |
| NCT00001215
| Genetic Studies of Lysosomal Storage Disorders | No drug interventions | Not Available | Not Available | enrolling_by_invitation |
| NCT00654433
| ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases | No drug interventions | treatment | 3 | terminated |
| NCT02120235
| Investigating Lysosomal Storage Diseases in Minority Groups | No drug interventions | Not Available | Not Available | unknown_status |
| NCT02000310
| Molecular and Cellular Mechanisms of Lysosomal Storage Diseases | No drug interventions | Not Available | Not Available | unknown_status |
| NCT03952637
| A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis | | treatment | 1 / 2 | recruiting |
| NCT03392987
| A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD) | No drug interventions | treatment | 2 | active_not_recruiting |
| NCT00001671
| The Classification and Cause of Leukodystrophies of Unknown Cause | No drug interventions | Not Available | Not Available | completed |
| NCT00852358
| A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I | | treatment | Not Available | completed |
| NCT01560182
| Gene Therapy for Metachromatic Leukodystrophy (MLD) | No drug interventions | treatment | 1 / 2 | active_not_recruiting |
| NCT01626092
| Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders | | treatment | Not Available | completed |
| NCT00786968
| Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I | | treatment | 1 | terminated |
| NCT00046202
| Study of Inborn Errors of Cholesterol Synthesis and Related Disorders | No drug interventions | Not Available | Not Available | recruiting |
| NCT01458613
| Biomarker for Maroteaux-Lamy Disease (BioMaroteaux) | No drug interventions | Not Available | Not Available | withdrawn |
| NCT00001780
| Magnetic Stimulation of the Human Nervous System | No drug interventions | Not Available | Not Available | completed |
| NCT00744692
| Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders | | treatment | 1 | completed |
| NCT02416661
| Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease | No drug interventions | Not Available | Not Available | completed |
| NCT06130228
| Nutritional Therapy in Late-onset Pompe Disease | No drug interventions | treatment | 2 | not_yet_recruiting |
| NCT03333200
| Longitudinal Study of Neurodegenerative Disorders | No drug interventions | Not Available | Not Available | recruiting |
| NCT00215527
| Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I | | treatment | 1 | terminated |
| NCT04283227
| OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD) | No drug interventions | treatment | 3 | active_not_recruiting |
| NCT04943991
| Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score | No drug interventions | screening | Not Available | active_not_recruiting |
| NCT04189601
| Complement Activation in the Lysosomal Storage Disorders | No drug interventions | Not Available | Not Available | withdrawn |
| NCT01963650
| Natural History Study of Children With Metachromatic Leukodystrophy | No drug interventions | Not Available | Not Available | terminated |
| NCT02363153
| Diet and Exercise in Pompe Disease | No drug interventions | treatment | Not Available | completed |
| NCT03897361
| Stem Cell Gene Therapy for Cystinosis | No drug interventions | treatment | 1 / 2 | active_not_recruiting |
| NCT03812042
| Screening of Lysosomal Storage Disorders Diseases in Minority Groups | No drug interventions | Not Available | Not Available | unknown_status |
| NCT04093349
| A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE) | No drug interventions | treatment | 1 / 2 | active_not_recruiting |
| NCT04040049
| A Fabry Disease Gene Therapy Study | No drug interventions | treatment | 1 / 2 | terminated |
| NCT04455230
| A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190 | No drug interventions | other | 1 / 2 | completed |
| NCT03853876
| A Natural History Study of Aspartylglucosaminuria | No drug interventions | Not Available | Not Available | terminated |
| NCT04399694
| Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders | No drug interventions | Not Available | Not Available | suspended |
| NCT03893240
| Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease | No drug interventions | screening | Not Available | completed |
| NCT04393701
| A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry | No drug interventions | diagnostic | Not Available | unknown_status |
| NCT01003912
| Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases | No drug interventions | treatment | 1 | withdrawn |
| NCT03812055
| Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders | No drug interventions | Not Available | Not Available | unknown_status |
| NCT03639844
| BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study | | Not Available | Not Available | no_longer_available |