| NCT07157254 | A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS) | RECRUITING | PHASE2 | 2025-11 | 2030-01 | 2030-01 |
| NCT06617429 | Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS) | ACTIVE_NOT_RECRUITING | PHASE3 | 2024-12-03 | 2027-11 | 2026-07 |
| NCT06636071 | Setrusumab in Pediatric Japanese Subjects With Osteogenesis Imperfecta | ACTIVE_NOT_RECRUITING | PHASE3 | 2024-10-25 | 2028-01 | 2027-01 |
| NCT06415344 | Long-term Extension of GTX-102 in Angelman Syndrome | ENROLLING_BY_INVITATION | PHASE3 | 2024-07-31 | 2029-02 | 2029-02 |
| NCT05768854 | Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis Imperfecta | ACTIVE_NOT_RECRUITING | PHASE3 | 2023-06-14 | 2027-04 | 2026-03 |
| NCT05933200 | A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD | ACTIVE_NOT_RECRUITING | PHASE3 | 2023-02-28 | 2027-08 | 2027-08 |
| NCT05345171 | Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency | ACTIVE_NOT_RECRUITING | PHASE3 | 2022-10-18 | 2031-03 | 2025-02-19 |
| NCT05312697 | Long-term Extension Study of Setrusumab in Adults With Type I, III, or IV Osteogenesis Imperfecta | TERMINATED | PHASE2 | 2022-04-28 | 2022-07-07 | 2022-07-07 |
| NCT05125809 | Setrusumab vs Placebo for Osteogenesis Imperfecta | ACTIVE_NOT_RECRUITING | PHASE2, PHASE3 | 2022-02-21 | 2027-04 | 2026-03 |
| NCT05139316 | A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa) | ACTIVE_NOT_RECRUITING | PHASE3 | 2021-11-08 | 2026-02 | 2024-02-20 |
| NCT04990388 | Safety, Tolerability, and Pharmacokinetics of UX053 in Patients With Glycogen Storage Disease Type III (GSD III) | TERMINATED | PHASE1, PHASE2 | 2021-10-18 | 2023-03-20 | 2023-03-20 |
| NCT04884815 | A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease | ACTIVE_NOT_RECRUITING | PHASE1, PHASE2 | 2021-09-27 | 2034-03 | 2029-03 |
| NCT04360265 | Follow-up Study of AAV-Mediated Gene Transfer (UX111; Previously Known as ABO-102) for MPS Type IIIA | ENROLLING_BY_INVITATION | PHASE3 | 2020-09-28 | 2027-08 | 2027-08 |
| NCT04259281 | A Study of the Safety and Tolerability of GTX-102 in Children with Angelman Syndrome | COMPLETED | PHASE1, PHASE2 | 2020-02-24 | 2025-01-08 | 2025-01-08 |
| NCT04088734 | Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease | TERMINATED | PHASE1, PHASE2 | 2019-09-18 | 2022-03-10 | 2022-03-10 |
| NCT03517085 | Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa) | COMPLETED | PHASE1, PHASE2 | 2018-05-18 | 2021-11-02 | 2021-11-02 |
| NCT03216486 | An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta | WITHDRAWN | PHASE2 | 2017-10-31 | 2018-11-01 | 2018-11-01 |
| NCT03118570 | A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 | COMPLETED | PHASE2 | 2017-09-11 | 2020-11-12 | 2019-10-01 |
| NCT02991144 | Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency | COMPLETED | PHASE1, PHASE2 | 2017-07-31 | 2021-12-16 | 2021-12-16 |
| NCT02960217 | Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) | TERMINATED | PHASE3 | 2017-04-19 | 2019-10-09 | 2019-10-09 |
| NCT02736188 | Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) | TERMINATED | PHASE3 | 2016-05-02 | 2018-01-10 | 2018-01-10 |
| NCT02731690 | A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy [HIBM]) Patients With Severe Ambulatory Impairment | TERMINATED | PHASE2 | 2016-04-29 | 2018-01-10 | 2018-01-10 |
| NCT02716246 | Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH | RECRUITING | PHASE2, PHASE3 | 2016-04-25 | 2027-07 | 2027-07 |
| NCT02618915 | Safety and Dose Finding Study of DTX101 (AAVrh10FIX) in Adults With Moderate/Severe to Severe Hemophilia B | TERMINATED | PHASE1, PHASE2 | 2015-12-16 | 2017-10-18 | 2017-10-18 |
| NCT02432144 | A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) | COMPLETED | PHASE3 | 2015-11-10 | 2019-01-14 | 2019-01-14 |
| NCT02599961 | Study to Assess the Long Term Safety and Efficacy of UX007 in Participants With Glucose Type 1 Deficiency Syndrome (Glut1 DS) | TERMINATED | PHASE2 | 2015-09-10 | 2019-10-22 | 2019-10-22 |
| NCT02418455 | Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age | COMPLETED | PHASE2 | 2015-07-21 | 2019-03-26 | 2019-03-26 |
| NCT02377921 | Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) | COMPLETED | PHASE3 | 2015-05-20 | 2017-06-09 | 2017-06-09 |
| NCT02214160 | Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies | COMPLETED | PHASE2 | 2014-12-09 | 2020-12-03 | 2020-12-03 |
| NCT02230566 | A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) | COMPLETED | PHASE3 | 2014-12 | 2016-05 | 2016-05 |
| NCT01993186 | Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) | COMPLETED | PHASE2 | 2014-02-28 | 2017-09-20 | 2017-09-20 |
| NCT01886378 | A Study of UX007 (Triheptanoin) in Participants With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) | COMPLETED | PHASE2 | 2014-02-06 | 2016-08-25 | 2016-08-25 |
| NCT01856218 | An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) | COMPLETED | PHASE1, PHASE2 | 2013-11 | 2016-07 | 2016-07 |
| NCT01806610 | Study of Safety and Tolerability of BPS804 in Patients With Late-stage Chronic Kidney Disease | WITHDRAWN | PHASE2 | 2013-08 | 2014-04 | 2014-04 |
| NCT01830972 | An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy | COMPLETED | PHASE2 | 2013-06-04 | 2017-02-14 | 2017-02-14 |
| NCT01517880 | A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy | COMPLETED | PHASE2 | 2012-05 | 2013-11 | 2013-11 |
| NCT01406548 | Safety and Efficacy of Multiple Dosing Regimens of BPS804 in Post Menopausal Women With Low Bone Mineral Density | COMPLETED | PHASE2 | 2011-07 | 2013-10 | 2013-10 |
| NCT01406977 | Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP) | COMPLETED | PHASE2 | 2011-07 | 2012-09 | 2012-09 |
| NCT01359319 | Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) | COMPLETED | PHASE1 | 2011-07 | 2012-05 | 2012-04 |
| NCT01417091 | Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta | COMPLETED | PHASE2 | 2011-06 | 2012-12 | 2012-12 |