Ultragenyx Pharmaceutical Inc
RAREHealthcare|Biotechnology|USA
$33.82
-0.81 (-2.34%)
Clinical Trials (90)
| Trial | Conditions | Phase | Status | Enrollment | Design | Drug |
|---|---|---|---|---|---|---|
| NCT05125809 Setrusumab vs Placebo for Osteogenesis Imperfecta | Osteogenesis Imperfecta | P2P3 | Active | 183 | RCT, Double-blind | Setrusumab |
| NCT06636071 Setrusumab in Pediatric Japanese Subjects With Osteogenesis Imperfecta | Osteogenesis Imperfecta | P3 | Active | 6 | Open-label | setrusumab |
| NCT05933200 A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD | Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | P3 | Active | 69 | RCT, Double-blind | Triheptanoin |
| NCT02716246 Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH | MPS IIIA, Sanfilippo Syndrome | P2P3 | Recruiting | 36 | Open-label | UX111, Prophylactic Immunomodulatory (IM) Therapy, Optimized Prophylactic IM Therapy, Adjuvant IM Therapy |
| NCT06617429 Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS) | Angelman Syndrome | P3 | Active | 129 | RCT, Double-blind | GTX-102 |
| NCT05345171 Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency | OTC Deficiency | P3 | Active | 37 | RCT, Double-blind | Oral Corticosteroids, Placebo for oral corticosteroids, Sodium Acetate |
| NCT05768854 Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis Imperfecta | Osteogenesis Imperfecta | P3 | Active | 69 | RCT, Open-label | Bisphosphonate, Setrusumab |
| NCT04884815 A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease | Wilson Disease | P1P2 | Active | 82 | RCT, Single-blind | Standard of Care (SOC) |
| NCT07157254 A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS) | Angelman Syndrome | P2 | Recruiting | 60 | RCT, Open-label | GTX-102 |
| NCT06340685 Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency | Pyruvate Dehydrogenase Complex Deficiency | P1 | Recruiting | 6 | Open-label | Triheptanoin |
| NCT04783428 Tumor-induced Osteomalacia Disease Monitoring Program | Tumor-induced Osteomalacia (TIO) | Active | 23 | — | — | |
| NCT05063435 Cardiovascular Structure and Function in the Mucopolysaccharidoses | Mucopolysaccharidoses, Carotid Disease | Active | 30 | — | — | |
| NCT04632953 Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program | Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | Active | 150 | — | — | |
| NCT03636438 Long Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC Deficiency | Ornithine Transcarbamylase (OTC) Deficiency | Active | 11 | — | — | |
| NCT03651505 X-linked Hypophosphatemia Disease Monitoring Program | X-linked Hypophosphatemia, Hypophosphatemic Rickets | Active | 782 | — | — | |
| NCT07447648 Assessing the Impact of Intensification of Lipid Lowering Therapy With Guidelines-based Evinacumab Administration on Coronary Plaque Volumes Measured by Coronary Computed Tomography Angiography (CCTA) in Patients With Homozygous Familial Hypercholesterolemia (HoFH) | Homozygous Familial Hypercholesterolemia (HoFH), Coronary Computed Tomography Angiography | Recruiting | 52 | — | — | |
| NCT03604835 Mucopolysaccharidosis VII Disease Monitoring Program | Mucopolysaccharidosis VII, MPS VII | Recruiting | 50 | — | — | |
| NCT06636383 Glycogen Storage Disease Type Ia (GSDIa) Disease Monitoring Program | Glycogen Storage Disease Type Ia | Recruiting | 140 | — | — | |
| NCT04320316 A Trial to Assess the Safety and Efficacy of KRN23 in Epidermal Nevus Syndrome (ENS) | Epidermal Nevus Syndrome | P4 | Completed | 1 | Open-label | Crysvita (burosumab-twza) Treatment |
| 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) | Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles | P3 | Terminated | 143 | Open-label | Aceneuramic Acid Extended-Release Tablets |
| NCT03581591 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets | Hypophosphatemia, Hypophosphatemic Rickets | P3 | Completed | 1 | Open-label | Burosumab |
| 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) | Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles | P3 | Completed | 89 | RCT, Double-blind | aceneuramic acid extended-release (Ace-ER), Placebo |
| NCT06415344 Long-term Extension of GTX-102 in Angelman Syndrome | Angelman Syndrome | P3 | By Invite | 255 | Open-label | GTX-102 |
| NCT02230566 A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) | MPS 7, Sly Syndrome | P3 | Completed | 12 | RCT, Double-blind | UX003 |
| NCT02432144 A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) | Sly Syndrome, MPS VII | P3 | Completed | 12 | Open-label | UX003 |
| 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) | Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) | P3 | Terminated | 44 | RCT, Double-blind | UX007, Placebo |
| NCT05611528 Safety and Effectiveness of Evinacumab for the Treatment of Homozygous Familial Hypercholesterolemia | Homozygous Familial Hypercholesterolemia | P3 | Completed | 10 | Open-label | Evinacumab |
| NCT04360265 Follow-up Study of AAV-Mediated Gene Transfer (UX111; Previously Known as ABO-102) for MPS Type IIIA | Mucopolysaccharidosis IIIA, MPS IIIA | P3 | By Invite | 41 | Open-label | Adjuvant Immunomodulatory (IM) Therapy |
| 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) | Glycogen Storage Disease Type IA | P3 | Completed | 49 | RCT, Double-blind | Oral prednisolone, Placebo for oral prednisolone |
| NCT03059160 Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. | Rett Syndrome | P2 | Unknown | 10 | Open-label | Tridecanoic Acid |
| 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 | GNE Myopathy, Hereditary Inclusion Body Myopathy | P2 | Completed | 46 | RCT, Double-blind | Sialic Acid Extended Release (SA-ER), Placebo |
| NCT03642860 The Effect of Triheptanoin on Fatty Acid Oxidation and Exercise Tolerance in Patients With Glycogenoses | Tarui Disease, Debrancher Deficiency | P2 | Completed | 3 | RCT, Double-blind | Triheptanoin, Placebo Oil |
| NCT01886378 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 | P2 | Completed | 29 | Open-label | UX007 |
| NCT02618915 Safety and Dose Finding Study of DTX101 (AAVrh10FIX) in Adults With Moderate/Severe to Severe Hemophilia B | Hemophilia B | P1P2 | Terminated | 6 | Open-label | — |
| 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 | Sly Syndrome, MPS VII | P2 | Completed | 8 | Open-label | UX003 |
| NCT03517085 Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa) | GSD1 | P1P2 | Completed | 12 | Open-label | steroid regimen |
| NCT02036853 An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome | Glucose Transporter Type-1 Deficiency Syndrome (Glut1 DS) | P2 | Completed | 20 | Open-label | Triheptanoin |
| NCT04311307 Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia | Glycogen Storage Disease Type IA | P1P2 | Completed | 20 | Open-label | [6,6-2H2]glucose |
| NCT01406548 Safety and Efficacy of Multiple Dosing Regimens of BPS804 in Post Menopausal Women With Low Bone Mineral Density | Osteopenia, Osteoporosis | P2 | Completed | 44 | RCT, Double-blind | BPS804 20mg/Kg, Placebo to 20mg/Kg BPS804 |
| NCT02014883 Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS | Glut1 Deficiency Syndrome | P2 | Completed | 20 | Open-label | GLUT1 DS |
| NCT02696044 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin | Rett Syndrome | P2 | Unknown | 12 | Open-label | triheptanoin |
| NCT02214160 Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies | Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency, Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency | P2 | Completed | 94 | Open-label | UX007 |
| NCT00947960 Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease | Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency | P2 | Completed | 23 | RCT, Double-blind | Triheptanoin |
| NCT02453061 A Comparative Phase 2 Study Assessing the Efficacy of Triheptanoin, an Anaplerotic Therapy in Huntington's Disease | Huntington Disease | P2 | Completed | 100 | RCT, Double-blind | Triheptanoin oil, Placebo |
| NCT05312697 Long-term Extension Study of Setrusumab in Adults With Type I, III, or IV Osteogenesis Imperfecta | Osteogenesis Imperfecta | P2 | Terminated | 2 | RCT, Open-label | Setrusumab |
| NCT02991144 Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency | Ornithine Transcarbamylase (OTC) Deficiency | P1P2 | Completed | 16 | Open-label | Reactive Corticosteroid Taper Regimen, Prophylactic Corticosteroid Taper Regimen |
| NCT04990388 Safety, Tolerability, and Pharmacokinetics of UX053 in Patients With Glycogen Storage Disease Type III (GSD III) | Glycogen Storage Disease Type III | P1P2 | Terminated | 9 | RCT, Double-blind | UX053, Antipyretic, H2 Blocker, H1 Blocker |
| NCT07511556 First-in-human Study of UX016 in GNEM | GNE Myopathy | P1P2 | Not Yet Recruiting | 24 | RCT, Double-blind | UX016 |
| NCT06067802 Study of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) | Medium-chain Acyl-CoA Dehydrogenase Deficiency | P2 | Withdrawn | — | Open-label | Triheptanoin |
| NCT04259281 A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome | Angelman Syndrome | P1P2 | Completed | 74 | Open-label | GTX-102 |
| NCT01406977 Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP) | Hypophosphatasia | P2 | Completed | 8 | Open-label | BPS804 |
| NCT07097311 Study to Evaluate the Use of Triheptanoin in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) | Medium-chain Acyl-CoA Dehydrogenase Deficiency | P2 | Withdrawn | — | Open-label | Triheptanoin |
| 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 | Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles | P2 | Terminated | 42 | Open-label | Aceneuramic Acid Extended-Release |
| NCT02432768 The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V) | Glycogen Storage Disease Type V | P2 | Completed | 22 | RCT, Double-blind | Triheptanoin |
| 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) | Mucopolysaccharidosis Type 7 | P1P2 | Completed | 3 | Open-label | UX003 |
| NCT01806610 Study of Safety and Tolerability of BPS804 in Patients With Late-stage Chronic Kidney Disease | Chronic-kidney Disease Stage 5D on Stable Hemodialysis | P2 | Withdrawn | — | RCT, Double-blind | BPS804, Placebo |
| NCT02679235 Brain Energy and Aging With Triheptanoin | Frontal Lobe Hypometabolism | P1P2 | Completed | 15 | Open-label | POST Triheptanoin |
| NCT01993186 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) | Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) | P2 | Completed | 36 | RCT, Double-blind | UX007, Placebo |
| NCT03118570 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 | Osteogenesis Imperfecta, Type I, Osteogenesis Imperfecta Type III | P2 | Completed | 112 | RCT, Double-blind | setrusumab, zoledronic acid (optional) |
| NCT02599961 Study to Assess the Long Term Safety and Efficacy of UX007 in Participants With Glucose Type 1 Deficiency Syndrome (Glut1 DS) | Glucose Transporter Type 1 Deficiency Syndrome | P2 | Terminated | 15 | Open-label | UX007 |
| 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 | GNE Myopathy, Hereditary Inclusion Body Myopathy (HIBM) | P2 | Completed | 59 | Open-label | SA-ER 500 mg, SA-IR 500 mg |
| NCT04088734 Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease | MPS IIIA, Sanfilippo Syndrome | P1P2 | Terminated | 5 | Open-label | ABO-102 |
| NCT01417091 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta | Osteogenesis Imperfecta | P2 | Completed | 10 | RCT, Open-label | BPS804 |
| NCT03506425 A Pilot Trial of Triheptanoin for People With Amyotrophic Lateral Sclerosis (PALS) | ALS | P1P2 | Completed | 15 | Open-label | Triheptanoin |
| NCT02000960 Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome | Glucose Transporter Type 1 Deficiency Syndrome | P2 | Unknown | 3 | Open-label | Triheptanoin |
| NCT03216486 An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta | Osteogenesis Imperfecta | P2 | Withdrawn | — | Open-label | BPS804 |
| NCT01359319 Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) | Hereditary Inclusion Body Myopathy (HIBM) | P1 | Completed | 26 | Open-label | Sialic Acid Extended Release (SA-ER) Tablets, Sialic Acid Extended Release (SA-ER) Tables, Sialic Acid Extended Release (SA-ER) Tablets, Sialic Acid Extended Release (SA-ER) Tablets, Sialic Acid Extended Release (SA-ER) Tablets |
| NCT04812106 Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring Program | Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | Terminated | 8 | — | — | |
| NCT02097251 An Open-Label Treatment Protocol With UX003 rhGUS Enzyme Replacement Therapy for an Advanced Stage MPS 7 Patient | Mucopolysaccharidosis Type 7 | NO_LONGER_AVAILABLE | — | — | UX003 | |
| NCT03773770 Expanded Access to Triheptanoin | Long Chain Fatty Acid Oxidation Disorders | AVAILABLE | — | — | Triheptanoin | |
| NCT04269122 A Study to Assess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult Subjects | Ornithine Transcarbamylase Deficiency | Completed | 120 | — | — | |
| NCT04717453 Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficiency | Ornithine Transcarbamylase Deficiency | Terminated | 1 | — | — | |
| NCT03768817 Clinical Outcome of Triheptanoin Treatment in Patients With Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) Treated Under Expanded Access Program | Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | Completed | 20 | — | — | |
| NCT05783791 Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome | Angelman Syndrome, Prader-Willi Syndrome | Completed | 11 | — | — | |
| NCT03993821 Burosumab for CSHS | Cutaneous Skeletal Hypophosphatemia Syndrome (CSHS), Epidermal Nevus Syndrome | Early P1 | Unknown | 1 | Open-label | Burosumab |
| NCT01461304 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism | Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2) | NO_LONGER_AVAILABLE | — | — | triheptanoin | |
| NCT05368038 ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program | Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2 | By Invite | 100,000 | — | — | |
| NCT03970278 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) | Completed | 12 | — | — | |
| NCT04574830 Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III (GSD III) | Glycogen Storage Disease Type III | Completed | 18 | — | — | |
| NCT03665636 Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I | Glycogen Storage Disease Type I | Early P1 | Completed | 4 | Open-label | Triheptanoin |
| NCT04531189 Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease | Wilson Disease | Completed | 16 | — | — | |
| NCT03775174 Expanded Access to Mepsevii | MPS VII, Mucopolysaccharidosis VII | AVAILABLE | — | — | Mepsevii | |
| NCT02968953 Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome | Glucose Transporter 1 Deficiency Syndrome | NO_LONGER_AVAILABLE | — | — | Triheptanoin | |
| NCT04909346 Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease | Ornithine Transcarbamylase Deficiency, Wilson Disease | Terminated | 51 | — | — | |
| NCT07159581 Gene Therapy for Wilson Disease Evaluated by 64Cu PET/CT | Wilson Disease | By Invite | 5 | — | — | |
| NCT04708015 Retrospective Study of Glucose Monitoring for Glycemic Control in Patients With GSDIa | Glycogen Storage Disease Type IA | Completed | 15 | — | — | |
| NCT01784679 GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) | Hereditary Inclusion Body Myopathy, GNE Myopathy | Completed | 319 | — | — | |
| NCT05196165 Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Participants With Glycogen Storage Disease Type III | Glycogen Storage Disease Type III | Terminated | 14 | — | — | |
| NCT02971969 Long-Term Safety, Tolerability, and Efficacy of DTX101 (AAVrh10FIX) in Adults With Moderate/Severe to Severe Hemophilia B | Hemophilia B | Completed | 6 | — | — | |
| NCT02931682 Observational Study of Males With Creatine Transporter Deficiency | Creatine Deficiency, X-linked | Terminated | 50 | — | — |