| Not Yet Recruiting | First-in-human Study of UX016 in GNEM GNE Myopathy | Phase 1 / Phase 2 | 2026-10-01 |
| Recruiting | A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS) Angelman Syndrome | Phase 2 | 2025-10-13 |
| Active Not Recruiting | Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS) Angelman Syndrome | Phase 3 | 2024-12-03 |
| Recruiting | Glycogen Storage Disease Type Ia (GSDIa) Disease Monitoring Program Glycogen Storage Disease Type Ia | — | 2024-11-04 |
| Active Not Recruiting | Setrusumab in Pediatric Japanese Subjects With Osteogenesis Imperfecta Osteogenesis Imperfecta | Phase 3 | 2024-10-25 |
| Enrolling By Invitation | Long-term Extension of GTX-102 in Angelman Syndrome Angelman Syndrome | Phase 3 | 2024-07-31 |
| Active Not Recruiting | Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis Imperfecta Osteogenesis Imperfecta | Phase 3 | 2023-06-14 |
| Active Not Recruiting | A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients Wit Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | Phase 3 | 2023-02-28 |
| Active Not Recruiting | Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency OTC Deficiency | Phase 3 | 2022-10-18 |
| Terminated | Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring Program Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | — | 2022-07-25 |
| Terminated | Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Participants With Glyco Glycogen Storage Disease Type III | — | 2022-05-20 |
| Terminated | Long-term Extension Study of Setrusumab in Adults With Type I, III, or IV Osteogenesis Imperfecta Osteogenesis Imperfecta | Phase 2 | 2022-04-28 |
| Active Not Recruiting | Setrusumab vs Placebo for Osteogenesis Imperfecta Osteogenesis Imperfecta | Phase 2 / Phase 3 | 2022-02-21 |
| Active Not Recruiting | Tumor-induced Osteomalacia Disease Monitoring Program Tumor-induced Osteomalacia (TIO) | — | 2022-01-31 |
| Active Not Recruiting | Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | — | 2021-11-30 |
| Completed | A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type IA | Phase 3 | 2021-11-08 |
| Terminated | Safety, Tolerability, and Pharmacokinetics of UX053 in Patients With Glycogen Storage Disease Type III (GSD II Glycogen Storage Disease Type III | Phase 1 / Phase 2 | 2021-10-18 |
| Active Not Recruiting | A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease Wilson Disease | Phase 1 / Phase 2 | 2021-09-27 |
| Terminated | Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease Ornithine Transcarbamylase Deficiency, Wilson Disease, Glycogen Storage Disease Type IA | — | 2021-06-23 |
| Completed | Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease Wilson Disease | — | 2020-12-11 |
| Completed | Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III Glycogen Storage Disease Type III | — | 2020-11-23 |
| Completed | Retrospective Study of Glucose Monitoring for Glycemic Control in Patients With GSDIa Glycogen Storage Disease Type IA | — | 2020-11-05 |
| Terminated | Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficiency Ornithine Transcarbamylase Deficiency | — | 2020-10-06 |
| Enrolling By Invitation | Follow-up Study of AAV-Mediated Gene Transfer (UX111; Previously Known as ABO-102) for MPS Type IIIA Mucopolysaccharidosis IIIA, MPS IIIA, Sanfilippo Syndrome | Phase 3 | 2020-09-28 |
| Completed | A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome Angelman Syndrome | Phase 1 / Phase 2 | 2020-02-24 |
| Terminated | Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease MPS IIIA, Sanfilippo Syndrome, Sanfilippo A | Phase 1 / Phase 2 | 2019-09-18 |
| Completed | A Study to Assess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult Ornithine Transcarbamylase Deficiency | — | 2019-08-02 |
| Completed | Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type Ia Glycogen Storage Disease Type IA, Von Gierke's Disease (GSD Type Ia) | — | 2019-07-15 |
| Completed | Clinical Outcome of Triheptanoin Treatment in Patients With Long-chain Fatty Acid Oxidation Disorders (LC-FAOD Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | — | 2019-01-30 |
| Active Not Recruiting | Long Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC Deficiency Ornithine Transcarbamylase (OTC) Deficiency | — | 2018-08-30 |
| Active Not Recruiting | X-linked Hypophosphatemia Disease Monitoring Program X-linked Hypophosphatemia, Hypophosphatemic Rickets | — | 2018-07-16 |
| Completed | Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa) GSD1 | Phase 1 / Phase 2 | 2018-05-18 |
| Recruiting | Mucopolysaccharidosis VII Disease Monitoring Program Mucopolysaccharidosis VII, MPS VII, MPS 7 | — | 2018-01-29 |
| Withdrawn | An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Osteogenesis Imperfecta | Phase 2 | 2017-10-31 |
| Completed | A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Osteogenesis Imperfecta, Type I, Osteogenesis Imperfecta Type III, Osteogenesis Imperfecta Type IV | Phase 2 | 2017-09-11 |
| Completed | Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Ornithine Transcarbamylase (OTC) Deficiency | Phase 1 / Phase 2 | 2017-07-31 |
| Terminated | Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated W Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) | Phase 3 | 2017-04-19 |
| Completed | Long-Term Safety, Tolerability, and Efficacy of DTX101 (AAVrh10FIX) in Adults With Moderate/Severe to Severe H Hemophilia B | — | 2017-01-01 |
| Terminated | Observational Study of Males With Creatine Transporter Deficiency Creatine Deficiency, X-linked | — | 2016-12-01 |
| Terminated | Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients Wi Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type | Phase 3 | 2016-05-02 |
| Terminated | A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UD Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type | Phase 2 | 2016-04-29 |
| Recruiting | Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH MPS IIIA, Sanfilippo Syndrome, Sanfilippo A | Phase 2 / Phase 3 | 2016-04-25 |
| Terminated | Safety and Dose Finding Study of DTX101 (AAVrh10FIX) in Adults With Moderate/Severe to Severe Hemophilia B Hemophilia B | Phase 1 / Phase 2 | 2015-12-16 |
| Completed | A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Muco Sly Syndrome, MPS VII, Mucopolysaccharidosis | Phase 3 | 2015-11-10 |
| Terminated | Study to Assess the Long Term Safety and Efficacy of UX007 in Participants With Glucose Type 1 Deficiency Synd Glucose Transporter Type 1 Deficiency Syndrome | Phase 2 | 2015-09-10 |
| Completed | Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharido Sly Syndrome, MPS VII, Mucopolysaccharidosis | Phase 2 | 2015-07-21 |
| Completed | Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamin Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type | Phase 3 | 2015-05-20 |
| Completed | Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Trihep Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency, Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency | Phase 2 | 2014-12-09 |
| Completed | A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients Wi MPS 7, Sly Syndrome, Mucopolysaccharidosis | Phase 3 | 2014-12-01 |
| Completed | Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glu Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) | Phase 2 | 2014-02-28 |
| Completed | A Study of UX007 (Triheptanoin) in Participants With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), Carnitine Palmitoyltransferase (CPT II) Deficiency, Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency | Phase 2 | 2014-02-06 |
| Completed | An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Be Mucopolysaccharidosis Type 7 | Phase 1 / Phase 2 | 2013-11-01 |
| Withdrawn | Study of Safety and Tolerability of BPS804 in Patients With Late-stage Chronic Kidney Disease Chronic-kidney Disease Stage 5D on Stable Hemodialysis | Phase 2 | 2013-08-01 |
| Completed | An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid-Extended Release (SA-ER) Tablets and Sialic A GNE Myopathy, Hereditary Inclusion Body Myopathy (HIBM) | Phase 2 | 2013-06-04 |
| Completed | GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History S Hereditary Inclusion Body Myopathy, GNE Myopathy, Nonaka Disease | — | 2013-04-05 |
| Completed | A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tabl GNE Myopathy, Hereditary Inclusion Body Myopathy | Phase 2 | 2012-05-01 |
| Completed | Safety and Efficacy of Multiple Dosing Regimens of BPS804 in Post Menopausal Women With Low Bone Mineral Densi Osteopenia, Osteoporosis | Phase 2 | 2011-07-01 |
| Completed | Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) Hereditary Inclusion Body Myopathy (HIBM) | Phase 1 | 2011-07-01 |
| Completed | Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With H Hypophosphatasia | Phase 2 | 2011-07-01 |
| Completed | Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Osteogenesis Imperfecta | Phase 2 | 2011-06-01 |
| Available | Expanded Access to Mepsevii MPS VII, Mucopolysaccharidosis VII, Sly Syndrome | — | — |
| Available | Expanded Access to Triheptanoin Long Chain Fatty Acid Oxidation Disorders | — | — |