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Clinical trials
catalyst calendar across sponsors →Studies where RARE is the lead sponsor, as filed with ClinicalTrials.gov. Completion dates are the sponsor's own projected windows and are revised as a study runs. Active studies first, then completed and stopped — newest readout first within each.
41 interventional · 19 observational · 2 expanded access · 21 with posted results
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| Study | Phase | Status | Interventions | Conditions | Enrollment | Primary completion | Readout in | Updated |
|---|---|---|---|---|---|---|---|---|
| Glycogen Storage Disease Type Ia (GSDIa) Disease Monitoring ProgramNCT06636383observationalIncidence and Severity of Serious Adverse Events (SAEs) Assessed as Related to DTX401 by the Investigator | — | Recruiting | Other: No Intervention | Glycogen Storage Disease Type Ia | 140 | Dec 2036 | ≤ 3,787 d | 2026-07-06 |
| Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring ProgramNCT04632953observationalLong-Term Safety of Patients With LC-FAOD as Assessed by Incidence, Severity, and Frequency of Serious Adverse Events (SAEs) and Adverse Events (AEs) in Pregnant and Lactating Patients with LC-FAOD | — | Active, not recruiting | Other: No Intervention | Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | 150 | Dec 2035 | ≤ 3,421 d | 2026-06-03 |
| X-linked Hypophosphatemia Disease Monitoring ProgramNCT03651505observationalLong-Term Safety of Burosumab | — | Active, not recruiting | Other: No intervention | X-linked Hypophosphatemia, Hypophosphatemic Rickets | 782 | Dec 2032 | ≤ 2,326 d | 2026-05-22 |
| Mucopolysaccharidosis VII Disease Monitoring ProgramNCT03604835observationalClinical Course of MPS VII Disease | — | Recruiting | Other: No Intervention | Mucopolysaccharidosis VII, MPS VII, MPS 7, Sly Syndrome | 50 | Apr 2032 | ≤ 2,081 d | 2026-06-11 |
| Tumor-induced Osteomalacia Disease Monitoring ProgramNCT04783428observationalLong-Term Effectiveness of Burosumab: Change From Baseline in Serum Phosporus Over Time | — | Active, not recruiting | Other: No intervention | Tumor-induced Osteomalacia (TIO) | 23 | 2032-02-28 | in 2,019 d | 2026-06-03 |
| A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)NCT07157254Subprotocol A/B/C/D: Number of Participants with Treatment Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs), Severe Events, and Events Related to Investigational Product, Procedure, and PremedicationRandomized · Open-label · Treatment | Phase 2 | Recruiting | Other: No intervention · Drug: GTX-102 | Angelman Syndrome | 60 | Jan 2030 | ≤ 1,261 d | 2026-08-07 |
| Long Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC DeficiencyNCT03636438observationalNumber of Participants with Adverse Events and Serious Adverse Events | — | Active, not recruiting | Other: No Intervention | Ornithine Transcarbamylase (OTC) Deficiency | 11 | Dec 2029 | ≤ 1,230 d | 2026-06-01 |
| Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSHNCT02716246Cerebrospinal Fluid (CSF) Heparan Sulfate (HS) (Disaccharide) ExposureNon-randomized · Open-label · Treatment | Phase 2/3 | Recruiting | Biological: UX111 · Drug: Prophylactic Immunomodulatory (IM) Therapy, Optimized Prophylactic IM Therapy, Adjuvant IM Therapy | MPS IIIA, Sanfilippo Syndrome, Sanfilippo A, Mucopolysaccharidosis III | 36 | Mar 2029 | ≤ 955 d | 2026-07-17 |
| A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson DiseaseNCT04884815Stage 1: Incidence of Treatment-Emergent Adverse Events (TEAEs), Treatment-Emergent Serious Adverse Events (TESAEs), Adverse Events of Special Interest (AESIs), Treatment-Related TEAEs, and Treatment-Related TESAEsRandomized · Single-masked · Treatment | Phase 1/2 | Active, not recruiting | Genetic: UX701 · Drug: Standard of Care (SOC) | Wilson Disease | 82 | Mar 2029 | ≤ 955 d | 2026-06-15 |
| Long-term Extension of GTX-102 in Angelman SyndromeNCT06415344Incidence of Treatment Emergent Adverse Events (TEAEs)Open-label · Treatment | Phase 3 | Enrolling by invitation | Drug: GTX-102 | Angelman Syndrome | 255 | Feb 2029 | ≤ 924 d | 2026-07-27 |
| First-in-human Study of UX016 in GNEMNCT07511556Number of Participants with Treatment-Emergent Adverse Events (TEAEs)Randomized · Quadruple-masked · Treatment | Phase 1/2 | Not yet recruiting | Drug: UX016 · Other: Placebo | GNE Myopathy | 24 | Dec 2028 | ≤ 865 d | 2026-04-06 |
| Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) DeficiencyNCT05345171Plasma Ammonia as Measured by 24-Hour Ammonia (AUC0-24)Randomized · Quadruple-masked · Treatment | Phase 3 | Active, not recruiting | Genetic: DTX301 · Other: Placebo · Drug: Oral Corticosteroids, Placebo for oral corticosteroids, Sodium Acetate | OTC Deficiency | 37 | Sep 2027 | ≤ 407 d | 2026-06-02 |
| Follow-up Study of AAV-Mediated Gene Transfer (UX111; Previously Known as ABO-102) for MPS Type IIIANCT04360265Number of Participants with Treatment-Emergent Adverse Events (TEAEs) and Treatment-Emergent Serious Adverse Events (SAEs)Non-randomized · Open-label · Other | Phase 3 | Enrolling by invitation | Other: No Investigational Product · Drug: Adjuvant Immunomodulatory (IM) Therapy | Mucopolysaccharidosis IIIA, MPS IIIA, Sanfilippo Syndrome, Sanfilippo A | 41 | Aug 2027 | ≤ 377 d | 2026-07-17 |
| A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAODNCT05933200Annualized Event Rate of Major Clinical Events (MCEs)Randomized · Quadruple-masked · Treatment | Phase 3 | Active, not recruiting | Drug: Triheptanoin · Dietary supplement: MCT Oil | Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | 69 | Aug 2027 | ≤ 377 d | 2026-07-21 |
| Setrusumab in Pediatric Japanese Subjects With Osteogenesis ImperfectaNCT06636071Annualized Rate of All Radiographically-Confirmed Fractures, Including Morphometric Vertebral Fractures During the Treatment PeriodOpen-label · Treatment | Phase 3 | Active, not recruiting | Biological: setrusumab | Osteogenesis Imperfecta | 6 | Jan 2027 | ≤ 165 d | 2026-06-15 |
| Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS)NCT06617429Change from Baseline in Bayley-4 Cognitive Raw Score Without Caregiver Input at Day 338Randomized · Quadruple-masked · Treatment | Phase 3 | Active, not recruiting | Drug: GTX-102 · Procedure: Sham-LP | Angelman Syndrome | 129 | 2026-07-10actual | — | 2026-08-06 |
| Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis ImperfectaNCT05768854Annualized Rate of All Radiographically-Confirmed Fractures, Including Morphometric Vertebral Fractures, at the Primary AnalysisRandomized · Open-label · Treatment | Phase 3 | Active, not recruiting | Drug: Bisphosphonate · Biological: Setrusumab | Osteogenesis Imperfecta | 69 | 2025-10-23actual | — | 2026-02-25 |
| Setrusumab vs Placebo for Osteogenesis ImperfectaNCT05125809Phase 2: Percent Change in Serum Amino-terminal Propeptide of Type 1 Procollagen (P1NP) from Baseline at Month 1Randomized · Quadruple-masked · Treatment | Phase 2/3 | Active, not recruiting | Biological: Setrusumab · Other: Placebo | Osteogenesis Imperfecta | 183 | 2025-10-20actual | — | 2026-02-25 |
| Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type IaNCT03970278results2026-03-18observationalNumber of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs and Discontinuations Due to TEAEsStudy Protocol ↗ · Statistical Analysis Plan ↗ | — | Completed | Other: No intervention | Glycogen Storage Disease Type IA, Von Gierke's Disease (GSD Type Ia) | 12 | 2025-02-25actual | — | 2026-03-18 |
| A Study of the Safety and Tolerability of GTX-102 in Children With Angelman SyndromeNCT04259281Number of Participants with Adverse Events (AEs), Serious AEs (SAEs), Adverse Events of Special Interest (AESIs), AEs Leading to Discontinuation and Severity of AEsNon-randomized · Open-label · Treatment | Phase 1/2 | Completed | Drug: GTX-102 | Angelman Syndrome | 74 | 2025-01-08actual | — | 2026-01-09 |
| A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)NCT05139316Percent Change from Baseline to Week 48 in Daily Cornstarch IntakeRandomized · Quadruple-masked · Treatment | Phase 3 | Completed | Genetic: DTX401 · Other: Placebo · Drug: Oral prednisolone, Placebo for oral prednisolone | Glycogen Storage Disease Type IA | 49 | 2024-02-20actual | — | 2026-03-25 |
| Safety, Tolerability, and Pharmacokinetics of UX053 in Patients With Glycogen Storage Disease Type III (GSD III)NCT04990388results2024-04-16Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, Deaths, Discontinuations, and/or Dose ChangesRandomized · Quadruple-masked · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 1/2 | Terminatedsponsor's stated reason: Sponsor decision not related to safety concerns | Biological: UX053 · Other: Placebo · Drug: Antipyretic, H2 Blocker, H1 Blocker | Glycogen Storage Disease Type III | 9 | 2023-03-20actual | — | 2024-04-16 |
| Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Participants With Glycogen Storage Disease Type IIINCT05196165observationalNumber of Hypoglycemic Events During the 26-week Observation Period | — | Terminatedsponsor's stated reason: Sponsor decision not related to safety concerns | Other: No Intervention | Glycogen Storage Disease Type III | 14 | 2023-03-02actual | — | 2023-09-28 |
| Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson DiseaseNCT04909346observationalPrevalence of Anti-AAV8 Antibodies in Subjects with OTC Deficiency or GSDIa | — | Terminatedsponsor's stated reason: Sponsor decision not related to safety concerns | — | Ornithine Transcarbamylase Deficiency, Wilson Disease, Glycogen Storage Disease Type IA | 51 | 2022-11-17actual | — | 2023-06-12 |
| Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring ProgramNCT04812106observationalLC-FAOD Management: Nutrition and Dosing Utilized to Control LC-FAOD | — | Terminatedsponsor's stated reason: Sponsor decision not related to safety concerns | Other: No Intervention | Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | 8 | 2022-10-27actual | — | 2022-11-18 |
| Observational Study of Males With Creatine Transporter DeficiencyNCT02931682observationalChange Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4) | — | Terminatedsponsor's stated reason: Sponsor decision not related to safety concerns | — | Creatine Deficiency, X-linked | 50 | 2022-10-24actual | — | 2022-11-14 |
| Long-term Extension Study of Setrusumab in Adults With Type I, III, or IV Osteogenesis ImperfectaNCT05312697results2025-07-23Percentage Change From Retreatment Baseline in Lumbar Spine Bone Mineral Density (BMD) Measured by Dual-Energy X-Ray Absorptiometry (DXA) After 12 Months of SetrusumabRandomized · Open-label · TreatmentStudy Protocol and Statistical Analysis Plan ↗ | Phase 2 | Terminatedsponsor's stated reason: Sponsor decision not related to safety concerns | Biological: Setrusumab | Osteogenesis Imperfecta | 2 | 2022-07-07actual | — | 2025-07-23 |
| Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III (GSD III)NCT04574830observationalUrine hexose tetrasaccharide (Hex4): mean and variance | — | Completed | Other: No Intervention | Glycogen Storage Disease Type III | 18 | 2022-06-30actual | — | 2022-09-13 |
| Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson DiseaseNCT04531189observationalClinical manifestation of Wilson Disease under study: demographics | — | Completed | — | Wilson Disease | 16 | 2022-03-25actual | — | 2022-04-29 |
| Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA DiseaseNCT04088734results2023-07-25Incidence, Type and Severity of Related Treatment-Emergent Adverse Events (TEAEs) by Time FrameOpen-label · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 1/2 | Terminatedsponsor's stated reason: Terminated due to lack of efficacy seen in patients with advanced MPS IIIA disease. The patients will be followed up annually for safety until five years post dosing | Drug: ABO-102 | MPS IIIA, Sanfilippo Syndrome, Sanfilippo A, Mucopolysaccharidosis III | 5 | 2022-03-10actual | — | 2023-07-25 |
| Retrospective Study of Glucose Monitoring for Glycemic Control in Patients With GSDIaNCT04708015observationalPercentage of time spent in normal glucose control (defined as glucose levels between 70 mg/dL - 120 mg/dL) over a seven-day period | — | Completed | Other: No Intervention | Glycogen Storage Disease Type IA | 15 | 2022-03-04actual | — | 2024-05-29 |
| Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) DeficiencyNCT02991144results2022-12-23Number of Participants With Adverse Events (AEs), Treatment-Emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), Deaths, and TEAEs Leading to DiscontinuationNon-randomized · Open-label · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 1/2 | Completed | Genetic: scAAV8OTC · Drug: Reactive Corticosteroid Taper Regimen, Prophylactic Corticosteroid Taper Regimen | Ornithine Transcarbamylase (OTC) Deficiency | 16 | 2021-12-16actual | — | 2023-01-26 |
| Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) DeficiencyNCT04717453observationalRate over time of ureagenesis for 4 hours based on presence of [1-13C] in urea | — | Terminatedsponsor's stated reason: Sponsor's Decision | Other: No Intervention | Ornithine Transcarbamylase Deficiency | 1 | 2021-12-15actual | — | 2022-02-18 |
| Long-Term Safety, Tolerability, and Efficacy of DTX101 (AAVrh10FIX) in Adults With Moderate/Severe to Severe Hemophilia BNCT02971969observationalIncidence of adverse events and serious adverse events by dosing group | — | Completed | — | Hemophilia B | 6 | 2021-11-06actual | — | 2022-01-06 |
| Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa)NCT03517085results2022-11-18Number of Participants With Adverse Events (AEs) Treatment-Emergent AEs (TEAEs) Serious TEAEs, Discontinuations Due to TEAEs, and Dose-Limiting Toxicities (DLTs)Non-randomized · Open-label · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 1/2 | Completed | Genetic: DTX401 · Drug: steroid regimen | GSD1 | 12 | 2021-11-02actual | — | 2022-11-18 |
| Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin StudiesNCT02214160results2021-12-08Annualized LC-FAOD Major Clinical Events (MCEs) Rate: 18 Months Pre- and Entire UX007 Period Comparison for UX007-CL201-Rollover CohortOpen-label · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 2 | Completed | Drug: UX007 | 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, Trifunctional Protein (TFP) Deficiency, Carnitine-acylcarnitine Translocase (CACT) Deficiency | 94 | 2020-12-03actual | — | 2023-08-01 |
| Clinical Outcome of Triheptanoin Treatment in Patients With Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) Treated Under Expanded Access ProgramNCT03768817observationalDuration of Hospitalization for Trigger Event | — | Completed | Other: No Intervention | Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | 20 | 2020-06-08actual | — | 2020-08-28 |
| A Study to Assess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult SubjectsNCT04269122observationalPlasma Ammonia Area Under the Curve (AUC0-24) | — | Completed | Other: No Intervention | Ornithine Transcarbamylase Deficiency | 120 | 2020-02-20actual | — | 2020-03-30 |
| Study to Assess the Long Term Safety and Efficacy of UX007 in Participants With Glucose Type 1 Deficiency Syndrome (Glut1 DS)NCT02599961results2020-04-30Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, Discontinuations Due to TEAEs, and DeathsOpen-label · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 2 | Terminatedsponsor's stated reason: Study was halted prematurely due to lack of efficacy | Drug: UX007 | Glucose Transporter Type 1 Deficiency Syndrome | 15 | 2019-10-22actual | — | 2020-06-11 |
| 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)NCT02960217results2020-04-24Maintenance Phase Movement Disorder FrequencyRandomized · Quadruple-masked · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 3 | Terminatedsponsor's stated reason: Study was halted prematurely due to lack of efficacy. | Drug: UX007, Placebo | Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) | 44 | 2019-10-09actual | — | 2020-06-16 |
| A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804NCT03118570results2022-03-02Change From Baseline in Radial Trabecular Volumetric Bone Mineral Density (Tr vBMD) at Month 12Randomized · Double-masked · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 2 | Completed | Drug: setrusumab, zoledronic acid (optional) · Dietary supplement: Calcium, Vitamin D | Osteogenesis Imperfecta, Type I, Osteogenesis Imperfecta Type III, Osteogenesis Imperfecta Type IV | 112 | 2019-10-01actual | — | 2023-07-05 |
| 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 AgeNCT02418455results2019-10-16Percent Change From Baseline in uGAG Excretion (LC-MS/MS-DS) at Week 48Open-label · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 2 | Completed | Drug: UX003 | Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII | 8 | 2019-03-26actual | — | 2019-10-30 |
| A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)NCT02432144results2019-07-30Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to DiscontinuationOpen-label · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 3 | Completed | Drug: UX003 | Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII | 12 | 2019-01-14actual | — | 2020-07-30 |
| An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis ImperfectaNCT03216486Change in radial Trabecular Volumetric Bone Mineral Density (mgHA/cm3)Open-label · Treatment | Phase 2 | Withdrawnsponsor's stated reason: Administrative Reason | Drug: BPS804 | Osteogenesis Imperfecta | 0 | 2018-11-01 | — | 2023-07-03 |
| 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 ImpairmentNCT02731690results2019-02-19Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to DiscontinuationOpen-label · TreatmentStatistical Analysis Plan ↗ · Study Protocol ↗ | Phase 2 | Terminated | Drug: Aceneuramic Acid Extended-Release | Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type, GNE Myopathy, Quadriceps Sparing Myopathy, Inclusion Body Myopathy 2 | 42 | 2018-01-10actual | — | 2019-02-19 |
| 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)NCT02736188results2019-02-19Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious AEs (SAEs), and Discontinuations Due to AEsOpen-label · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 3 | Terminated | Drug: Aceneuramic Acid Extended-Release Tablets | Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type, GNE Myopathy, Quadriceps Sparing Myopathy | 143 | 2018-01-10actual | — | 2023-03-24 |
| 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)NCT01784679observationalCharacterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function. | — | Completed | — | Hereditary Inclusion Body Myopathy, GNE Myopathy, Nonaka Disease, Quadriceps Sparing Myopathy (QSM), Distal Myopathy With Rimmed Vacuoles (DMRV) | 319 | 2017-11-30actual | — | 2018-04-27 |
| Safety and Dose Finding Study of DTX101 (AAVrh10FIX) in Adults With Moderate/Severe to Severe Hemophilia BNCT02618915results2018-11-14Number of Participants With Adverse Events (AEs), Treatment-Related Adverse Events (TEAEs), and Serious AEs (SAEs)Non-randomized · Open-label · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 1/2 | Terminatedsponsor's stated reason: Sponsor decision; not due to any safety concerns related to DTX101. | Genetic: DTX101 | Hemophilia B | 6 | 2017-10-18actual | — | 2018-11-14 |
| Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)NCT01993186results2020-05-29Percent Reduction From Baseline to Week 8 in Frequency of Total Seizures (Normalized to a 4-Week Rate)Randomized · Quadruple-masked · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 2 | Completed | Drug: UX007, Placebo | Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) | 36 | 2017-09-20actual | — | 2020-06-19 |
| 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)NCT02377921results2018-07-09Change From Baseline in UEC Score (Total Force in kg) at Week 48Randomized · Quadruple-masked · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 3 | Completed | Drug: aceneuramic acid extended-release (Ace-ER), Placebo | Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type, GNE Myopathy | 89 | 2017-06-09actual | — | 2019-06-27 |
| 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) MyopathyNCT01830972results2018-03-13Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to DiscontinuationNon-randomized · Open-label · TreatmentStudy Protocol ↗ · Statistical Analysis Plan ↗ | Phase 2 | Completed | Drug: SA-ER 500 mg, SA-IR 500 mg | GNE Myopathy, Hereditary Inclusion Body Myopathy (HIBM) | 59 | 2017-02-14actual | — | 2018-04-11 |
| A Study of UX007 (Triheptanoin) in Participants With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)NCT01886378results2021-02-11Change From Baseline in Time Adjusted-Area Under the Curve (AUC/Time) for Workload During Cycle Ergometry at Week 24Open-label · Treatment | Phase 2 | Completed | Drug: UX007 | Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), Carnitine Palmitoyltransferase (CPT II) Deficiency, Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Longchain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency, Trifunctional Protein (TFP) Deficiency | 29 | 2016-08-25actual | — | 2021-02-11 |
| 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)NCT01856218results2018-01-05Percentage Change From Baseline in Urinary Glycosaminoglycan (uGAG) Dermatan SulfateOpen-label · Treatment | Phase 1/2 | Completed | Drug: UX003 | Mucopolysaccharidosis Type 7 | 3 | Jul 2016actual | — | 2019-01-04 |
| A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)NCT02230566results2018-02-19European Union (EU) and Rest of World: Percentage Change From Baseline in Urinary Glycosaminoglycan (uGAG) Dermatan Sulfate (DS) at UX003 Treatment Week 24Randomized · Quadruple-masked · Treatment | Phase 3 | Completed | Drug: UX003 · Other: Placebo | MPS 7, Sly Syndrome, Mucopolysaccharidosis, MPS VII | 12 | May 2016actual | — | 2020-07-30 |
| Study of Safety and Tolerability of BPS804 in Patients With Late-stage Chronic Kidney DiseaseNCT01806610Occurrence of adverse events after a single administration of BPS804Randomized · Double-masked · Treatment | Phase 2 | Withdrawn | Drug: BPS804, Placebo | Chronic-kidney Disease Stage 5D on Stable Hemodialysis | 0 | Apr 2014 | — | 2022-09-14 |
| 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 MyopathyNCT01517880Evaluate the effect of SA-ER treatment on muscle sialylation, strength, and function in patients with HIBM.Randomized · Quadruple-masked · Treatment | Phase 2 | Completed | Drug: Sialic Acid Extended Release (SA-ER), Placebo | GNE Myopathy, Hereditary Inclusion Body Myopathy | 46 | Nov 2013actual | — | 2016-06-16 |
| Safety and Efficacy of Multiple Dosing Regimens of BPS804 in Post Menopausal Women With Low Bone Mineral DensityNCT01406548Change from baseline to month 9 in bone mineral density at the lumbar spine for the individual BPS804 groups and pooled placebo arms.Randomized · Quadruple-masked · Treatment | Phase 2 | Completed | Drug: BPS804 20mg/Kg, Placebo to 20mg/Kg BPS804 | Osteopenia, Osteoporosis | 44 | Oct 2013actual | — | 2022-09-15 |
| Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis ImperfectaNCT01417091Safety and tolerability (composite outcome: standard laboratory, (serious) adverse events)Randomized · Open-label · Treatment | Phase 2 | Completed | Drug: BPS804 | Osteogenesis Imperfecta | 10 | Dec 2012actual | — | 2021-05-11 |
| Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP)NCT01406977The number (percent) of patients experiencing adverse events or serious adverse eventsOpen-label · Treatment | Phase 2 | Completed | Drug: BPS804 | Hypophosphatasia | 8 | Sep 2012actual | — | 2022-09-16 |
| Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM)NCT01359319Evaluate the safety of repeated doses of Sialic Acid - Extended Release (SA-ER) tablets in patients with HIBMNon-randomized · Open-label · Treatment | Phase 1 | Completed | Drug: 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 | Hereditary Inclusion Body Myopathy (HIBM) | 26 | Apr 2012actual | — | 2012-05-21 |
| Expanded Access to TriheptanoinNCT03773770expanded access | — | Available | Drug: Triheptanoin | Long Chain Fatty Acid Oxidation Disorders | — | — | — | 2026-07-31 |
| Expanded Access to MepseviiNCT03775174expanded access | — | Available | Drug: Mepsevii | MPS VII, Mucopolysaccharidosis VII, Sly Syndrome | — | — | — | 2026-07-30 |
Primary completion is the date the sponsor filed with the registry — their own projection, revised whenever they revise it, unless the row is marked actual.
Source: ClinicalTrials.gov, retrieved 2026-08-19