[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Ultragenyx Pharmaceutical Inc\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":204},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,7,0,[8,43,74,101,131,148,173],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":29,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100605033","phase-2-a-safety-and-efficacy-study-of-gtx-102-in-subjects-with-deletion--or-nondeletion-type-angelman-syndrome-as-100605033",false,"NCT07157254","A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)","A Phase 2, Open-label, Basket Study Investigating the Safety and Efficacy of GTX-102 in Adult and Pediatric Subjects With Deletion- or Nondeletion-type Angelman Syndrome","Aurora","Inclusion Criteria:\n\n1. Signed informed consent from parent(s) or legal guardian(s)\n2. Males and females of the following ages and genotypes at time of informed consent:\n\n   1. Subprotocol A: ≥ 1 to \\\u003C 4 years of age with a genetically confirmed diagnosis of deletion-type Angelman syndrome\n   2. Subprotocol B: ≥ 4 to \\\u003C 18 years of age with a genetically confirmed diagnosis of UPD\u002FICD Angelman syndrome\n   3. Subprotocol C: ≥ 18 to \\\u003C 65 years of age with a genetically confirmed diagnosis of Angelman syndrome, any genotype\n   4. Subprotocol D: ≥ 4 to \\\u003C 18 years of age with a genetically confirmed diagnosis of mutation-type Angelman syndrome\n3. Weight ≥ 8 kg at Screening Visit\n4. Platelet count, prothrombin time \u002F international normalized ratio, and partial thromboplastin time \\\u003C 1.5x the upper limit of normal and platelets \\> 75,000 cells\u002Fmm3 at the Screening Visit\n5. Willing and able to comply with scheduled visits, drug administration plan, laboratory tests, and all study procedures, including lumbar puncture (LP) procedure, magnetic resonance imaging (MRI) and tolerating anesthesia without intubation\n6. From the time of informed consent through to at least 6 months after the final dose of GTX-102, females of childbearing potential who are sexually active must use highly effective contraception or abstinence. Males are able to participate if they agree to remain abstinent (refrain from heterosexual intercourse) or use acceptable contraceptive methods during the study and for at least 3 months after the final dose of GTX-102\n\nExclusion Criteria:\n\n1. Any change in medications or diet\u002Fsupplements intended to treat symptoms of Angelman Syndrome (eg, sleeping aids, antiseizure medications, supplements, dietary change including ketogenic or low-glycemic index diet, other) within the month prior to the Screening Visit (excluding weight-based adjustments)\n2. Any condition that creates an increased risk of unsuccessful lumbar puncture\n3. Current or expected concomitant use of drugs that increase the risk of bleeding (eg, heparin, low molecular weight heparin, platelet inhibitors)\n4. Known hypersensitivity to GTX-102 or its excipients or required premedication that, in the judgment of the Investigator, places the subject at increased risk for adverse effects\n5. Presence or history of any condition, lab abnormality, or infection that, in the judgment of the Investigator, would interfere with study participation, pose undue safety risk, or would confound interpretation of results\n6. Pregnant or breastfeeding or planning to become pregnant (self or partner) at any time during the study\n7. Use of any investigational product or investigational medical device within 6 months or 5 half-lives prior to the Screening Visit, or any prior use of gene therapy or an ASO regardless of length of time since last use\n8. Concurrent participation in any interventional study","ALL","1 Year","64 Years",{"count":21,"type":22},60,"ESTIMATED","INTERVENTIONAL",[25],"PHASE2","The main goal of the study is to evaluate the safety and efficacy of GTX-102 in participants with Angelman syndrome.",[28],"Angelman Syndrome",[28],"RECRUITING","2026-06-22",{"date":33,"type":34},"2026-06-23","ACTUAL",{"date":36,"type":34},"2025-10-13",{"date":38,"type":22},"2030-01",{"name":40,"class":41},"Ultragenyx Pharmaceutical Inc","INDUSTRY",21,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":48,"acronym":4,"eligibilityCriteria":49,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":50,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":53,"conditions":54,"keywords":59,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":66,"startDateStruct":68,"completionDateStruct":70,"leadSponsor":72,"locationsCount":73},"100332174","mucopolysaccharidosis-vii-disease-monitoring-program-100332174","NCT03604835","Mucopolysaccharidosis VII Disease Monitoring Program","Mucopolysaccharidosis VII Disease Monitoring Program (MPS VII DMP)","Inclusion Criteria:\n\n* Diagnosis of MPS VII based on laboratory diagnosis, including either enzymatic or mutation analysis.\n* Willing and able to provide written informed consent or, in the case of patients under the age of 18 (or below adult ages as defined by local laws and regulations) or patients \\>18 years of age who have cognitive deficiencies, provide written assent (if required) and written informed consent by a legally authorized representative after the nature of the DMP has been explained, and prior to any research-related procedures.\n* Willing to comply with DMP visit schedule.\n\nExclusion Criteria:\n\n* Concurrent participation in other pharmaceutical company-sponsored interventional clinical trial unless approved by Ultragenyx.",{"count":51,"type":22},50,"OBSERVATIONAL","The objectives of this study are to characterize MPS VII disease presentation and progression and assess long-term effectiveness and safety, including hypersensitivity reactions and immunogenicity of vestronidase alfa.",[55,56,57,58],"Mucopolysaccharidosis VII","MPS VII","MPS 7","Sly Syndrome",[60,61,62,63,64],"UX003","Mepsevii","vestronidase alfa-vjbk","vestronidase alfa","recombinant human beta-glucuronidase","2026-06-10",{"date":67,"type":34},"2026-06-11",{"date":69,"type":34},"2018-01-29",{"date":71,"type":22},"2032-04",{"name":40,"class":41},14,{"id":75,"slug":76,"hasResults":11,"nctId":77,"briefTitle":78,"officialTitle":79,"acronym":4,"eligibilityCriteria":80,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":81,"targetDuration":4,"studyType":23,"phases":83,"briefSummary":85,"conditions":86,"keywords":91,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":94,"startDateStruct":95,"completionDateStruct":97,"leadSponsor":99,"locationsCount":100},"100264019","phase-2-phase-iiiiii-gene-transfer-clinical-trial-of-scaav9u1ahsgsh-100264019","NCT02716246","Phase I\u002FII\u002FIII Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH","Phase I\u002FII\u002FIII Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA","Inclusion Criteria:\n\n* Diagnosis of MPS IIIA confirmed by the following methods:\n\n  * No detectable or significantly reduced SGSH enzyme activity by leukocyte assay, and\n  * Genomic DNA analysis demonstrating homozygous or compound heterozygous mutations in the SGSH gene (based upon review of documented results from a qualified laboratory, and with confirmation with Medical Monitor)\n* Age:\n\n  * For Cohort 1-3: From birth (participating sites in USA and Australia) OR 6 months (participating sites in Spain) to 2 years of age with no BSITD-III Cognitive Development Quotient (DQ) requirement, or older than 2 years with a BSITD-III Cognitive DQ of 60 or above (participating sites globally).\n  * For Cohort 4 (participating sites in Spain): 3 months to ≤ 2 years of age with no BSITD-III Cognitive DQ requirement or \\> 2 years of age with a BSITD-III Cognitive DQ ≥ 60 (n = up to 6). Up to 2 additional subjects \\> 2 years and ≤ 5 years of age with a BSITD-III Cognitive DQ \\\u003C 60 may also be enrolled. •Subjects must be ≥ 6 months of age before UX111 administration. However, subjects may be consented and initiate relevant Screening Procedures and IM treatment \\\u003C 6 months of age. Refer to Section 8.2 for relevant screening procedures •For children ≤ 24 months chronological age who were born prematurely, defined as born at \\\u003C 36 weeks gestational age, the corrected gestational age must be used for determining inclusion •The BSITD-III Cognitive DQ is assessed during the onsite Screening visit, for subjects who require it •The age of the child on the date of the Screening BSITD-III assessment is used to determine the requirement for the BSITD-III Cognitive DQ score.\n* Cohort 4 only: Vaccination status based on age according to country-specific guidelines that is up to date 30 days prior to Enrollment as verified by documentation from the subject's primary care physician, and willing to defer vaccines through 6 months after completion of the subject's IM medication, or longer per Principal Investigator (PI) judgment. Emergency use authorization or conditional marketing authorization of coronavirus disease (COVID) vaccines is included unless there is an accepted medical exemption.\n\nExclusion Criteria:\n\n* Inability to participate in the clinical evaluation as determined by PI\n* Cohorts 1 to 3 only: Identification of two nonsense or null variants on genetic testing of the SGSH gene (based upon review of documented results from a qualified laboratory, and with confirmation with Medical Monitor)\n* At least one S298P mutation in the SGSH gene (based upon review of documented results from a qualified laboratory, and with confirmation with Medical Monitor)\n* Has evidence of an attenuated phenotype of MPS IIIA, in the judgement of the PI\n* Presence of a concomitant medical condition that precludes lumbar puncture or use of anesthetics\n* Active viral infection based on clinical observations\n* Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer or precludes the child from participating in the protocol assessments and follow up\n* Cohorts 1 to 3 only: Subjects with total anti-AAV9 antibody titers ≥ 1:100 equivalent to a positive screen as determined by ELISA binding assay in serum\n* Cohorts 1-3 only: Subjects with a positive response for the enzyme-linked immunosorbent spot assay (ELISpot) for T-cell responses to AAV9\n* Cohorts 1-3 only: Serology consistent with exposure to human immunodeficiency virus (HIV), or serology consistent with active hepatitis B or C infection, Cohort 4: Current clinically significant infections (including any requiring systemic treatment including, but not limited to, HIV; hepatitis A, B, or C; varicella zosters virus; human T-cell lymphotropic virus type 1 \\[HTLV-1\\]; tuberculosis; or COVID-19) that would interfere with participation in the study.\n* Bleeding disorder or any other medical condition or circumstance in which a lumbar puncture (for collection of CSF) is contraindicated according to local institutional policy\n* Visual, hearing, or other impairment sufficient to preclude cooperation with neurodevelopmental testing\n* Uncontrolled seizure disorder\n* Any item (braces, etc.) or circumstance that would exclude the subject from being able to undergo MRI according to local institutional policy\n* Any other situation that precludes the subject from undergoing procedures required in this study\n* Subjects with cardiomyopathy or significant congenital heart abnormalities\n* The presence of significant non-MPS IlIA related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study\n* Cohorts 1-3: Abnormal laboratory values Grade 2 or higher as defined in common terminology criteria for adverse events (CTCAE) v4.03 for gamma-glutamyl transferase (GGT), total bilirubin, creatinine, hemoglobin, white blood cell (WBC) count, platelet count, prothrombin time (PT) and activated partial thromboplastin time (aPTT), Cohort 4: Any of the following abnormal laboratory values from screening assessment:\n\n  * Aspartate aminotransferase (AST), alanine aminotransferase (ALT), GGT, and\u002For alkaline phosphatase ≥ 2 × upper limit of normal (ULN) and\u002For total bilirubin \\> 1.5 × ULN\n  * Anemia (hemoglobin \\\u003C 10 g\u002FdL)\n  * Leukopenia or leukocytosis (total WBC count \\\u003C 3,000\u002Fmm3 and \\> 15,000\u002Fmm3 respectively)\n  * Abnormal absolute neutrophil count (ANC) of \\\u003C 1000\u002Fmm3\n  * Platelet count \\\u003C 100,000\u002Fmm3\n  * Coagulopathy (international normalized ratio \\[INR\\] \\> 1.5) or aPTT \\> 40 seconds\n  * Renal impairment, defined as estimated glomerular filtration rate (eGFR) below the lower limit of normal (age and sex appropriate) based on Bedside Schwartz equation\n* Female of childbearing potential who is pregnant or demonstrates a positive urine or bhCG result at screening assessment (if applicable)\n* Cohorts 1-3: Any vaccination with viral attenuated vaccines less than 30 days prior to the scheduled date of treatment (and use of prednisolone)\n* Previous treatment by hematopoietic stem cell transplantation\n* Previous participation in a gene\u002Fcell therapy or enzyme replacement therapy (ERT) clinical trial\n\nCohort 4 only:\n\n* Known hypersensitivity, that in the judgment of the PI, places the subject at increased risk for adverse effects.\n* Unwilling to avoid consumption of grapefruit juice and the use of strong inhibitors of CYP3A4 and\u002For P-gp (eg, ketoconazole, voriconazole, itraconazole, erythromycin, telithromycin, or clarithromycin), strong inducers of CYP3A4 and\u002For P-gp (eg, rifampin, rifabutin, phenobarbital, carbamazepine, or phenytoin), and St. John's Wort from 30 days prior to Screening through completion of the IM regimen.",{"count":82,"type":22},36,[25,84],"PHASE3","The main objective of this study is to evaluate the efficacy and safety of UX111 for the treatment of MPS IIIA.",[87,88,89,90],"MPS IIIA","Sanfilippo Syndrome","Sanfilippo A","Mucopolysaccharidosis III",[87,92,93],"Sanfilippo","Gene Therapy",{"date":67,"type":34},{"date":96,"type":34},"2016-04-25",{"date":98,"type":22},"2029-03",{"name":40,"class":41},5,{"id":102,"slug":103,"hasResults":11,"nctId":104,"briefTitle":105,"officialTitle":106,"acronym":4,"eligibilityCriteria":107,"healthyVolunteers":11,"sex":17,"minAge":108,"maxAge":4,"enrollmentInfo":109,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":111,"conditions":112,"keywords":114,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":122,"lastUpdatePostDateStruct":123,"startDateStruct":125,"completionDateStruct":127,"leadSponsor":129,"locationsCount":130},"100564992","glycogen-storage-disease-type-ia-gsdia-disease-monitoring-program-100564992","NCT06636383","Glycogen Storage Disease Type Ia (GSDIa) Disease Monitoring Program","GSDIa Disease Monitoring Program","Inclusion Criteria:\n\n* Patient who had:\n\n  * DTX401 (full or partial dose) administered in a parent clinical study (Group 1) or\n  * Prescribed DTX401(full or partial dose) administered in a post-marketing setting (Group 2)\n* Patient is willing and able to provide informed consent after the nature of the study has been explained, and prior to any research-related assessments or procedures. If a minor or an adult with cognitive limitations, the patient is willing and able (if possible) to provide assent and have a legally authorized representative provide informed consent after the nature of the study has been explained, and prior to any research-related assessments or procedures.\n\nExclusion Criteria:\n\n* Presence of any condition that would interfere with study participation, interpretation of results or affect patient's safety in the opinion of the Investigator","2 Years",{"count":110,"type":22},140,"The main objective of this observational study is to evaluate the long-term safety and effectiveness of DTX401 for at least 10 years after DTX401 administration.",[113],"Glycogen Storage Disease Type Ia",[115,116,117,118,119,120,121],"Glycogen storage disorder Ia","AAV","Gene therapy","Von Gierke disease","Glucose metabolism disorder","GSD1","GSDIa","2026-05-28",{"date":124,"type":34},"2026-05-29",{"date":126,"type":34},"2024-11-04",{"date":128,"type":22},"2036-12",{"name":40,"class":41},19,{"id":132,"slug":133,"hasResults":11,"nctId":134,"briefTitle":135,"officialTitle":4,"acronym":4,"eligibilityCriteria":136,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":137,"phases":4,"briefSummary":138,"conditions":139,"keywords":140,"overallStatus":143,"whyStopped":4,"lastUpdateSubmitDate":144,"lastUpdatePostDateStruct":145,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":147,"locationsCount":4},"100345244","expanded-access-to-mepsevii-100345244","NCT03775174","Expanded Access to Mepsevii","Inclusion Criteria:\n\n\\-\n\nExclusion Criteria:\n\n\\-","EXPANDED_ACCESS","Individual patient expanded access requests may be considered for patients who have no other treatment options",[56,55,58],[141,142],"Expanded Access","Compassionate Use","AVAILABLE","2026-04-06",{"date":146,"type":34},"2026-04-07",{"name":40,"class":41},{"id":149,"slug":150,"hasResults":11,"nctId":151,"briefTitle":152,"officialTitle":4,"acronym":4,"eligibilityCriteria":153,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":137,"phases":4,"briefSummary":154,"conditions":155,"keywords":157,"overallStatus":143,"whyStopped":4,"lastUpdateSubmitDate":144,"lastUpdatePostDateStruct":170,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":172,"locationsCount":4},"100345136","expanded-access-to-triheptanoin-100345136","NCT03773770","Expanded Access to Triheptanoin","\\- The participant must not be eligible for a UX007 clinical trial","Expanded access may be provided for qualified patients who have limited treatment options and are not eligible for a clinical trial.",[156],"Long Chain Fatty Acid Oxidation Disorders",[141,142,158,159,160,161,162,163,164,165,166,167,168,169],"Carnitine Palmitoyltransferase Deficiency","CPT I","CPT II","Very Long Chain acyl-CoA Dehydrogenase Deficiency","VLCAD","Long Chain 3-hydroxy-acyl-CoA Dehydrogenase Deficiency","LHCAD","Trifunctional Protein Deficiency","TFP","Carnitine-acylcarnitine Translocase Deficiency","CACT","LC-FAOD",{"date":171,"type":34},"2026-04-13",{"name":40,"class":41},{"id":174,"slug":175,"hasResults":11,"nctId":176,"briefTitle":177,"officialTitle":178,"acronym":4,"eligibilityCriteria":179,"healthyVolunteers":11,"sex":17,"minAge":180,"maxAge":181,"enrollmentInfo":182,"targetDuration":4,"studyType":23,"phases":184,"briefSummary":186,"conditions":187,"keywords":189,"overallStatus":195,"whyStopped":4,"lastUpdateSubmitDate":196,"lastUpdatePostDateStruct":197,"startDateStruct":198,"completionDateStruct":200,"leadSponsor":202,"locationsCount":203},"100632274","phase-1-first-in-human-study-of-ux016-in-gnem-100632274","NCT07511556","First-in-human Study of UX016 in GNEM","A Phase 1\u002F2, First-in-human, Double-blind, Placebo-controlled Study to Assess Dose, Safety, and Efficacy of UX016 (Sialic Acid-C16 Prodrug) in Adults With GNE Myopathy","Inclusion Criteria:\n\n* A confirmed diagnosis of GNEM (also known as hereditary inclusion body myopathy \\[HIBM\\], distal myopathy with rimmed vacuoles \\[DMRV\\], inclusion body myopathy 2 \\[IBM2\\], and Nonaka myopathy in Japan) by Clinical Laboratory Improvement Amendments (CLIA)-certified genetic testing with identification of a disease-associated variant in the gene encoding the GNE\u002FMNK enzyme. Genotyping will not be conducted in this protocol.\n* Ability to walk a minimum of 20 m independently during Screening. The use of assistive devices and orthotics is allowed.\n* Has ≤ 80% of normal biceps strength (dominant side) assessed by hand-held dynamometry (HHD) associated with a clinical pattern of weakening in the upper extremity and ability to provide reproducible force in unilateral elbow flexors (dominant side) during HHD testing (unilateral between test variability of ≤ 15%) during Screening.\n* Willing and able to comply with all study procedures including needle muscle biopsies of the quadriceps muscle.\n* From informed consent to after the last dose of study drug, females of childbearing potential and fertile males must consent to use highly effective contraception. If female, agree not to become pregnant and willing to have additional pregnancy testing during the study. Females considered not of childbearing potential include those who have been in menopause for at least 2 years, have had tubal ligation at least 1 year prior to Screening, or who have had a total hysterectomy. If male, agree not to father a child or donate sperm.\n\nExclusion Criteria:\n\n* Ingestion of N-acetyl-D-mannosamine (ManNAc), SA, or related metabolites, including 6-sialyllactose; intravenous immune globulin; supplements; or anything that can be metabolized to produce significant amounts of SA in the body for the prior 60 days through the end of the study.\n* Any changes in diet or exercise routine in the prior 30 days. Subjects are strongly discouraged from making any changes to their diet and exercise routines following enrollment.\n* Receiving concomitant oral medications that are substrates for CYP2B6, P-glycoprotein (P-gp) transporters, or breast cancer resistance protein (BCRP) transporters.\n* Known hypersensitivity to SA or its excipients that, in the judgment of the Investigator, places the subject at increased risk for adverse effects.\n* Any of the following laboratory abnormalities at Screening:\n\n  * Alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyl transferase (GGT), or glutamate dehydrogenase (GLDH) \\> 3 × upper limit of normal (ULN)\n  * Total bilirubin \\> 2 × ULN\n* Estimated glomerular filtration rate (GFR) \\\u003C 60 mL\u002Fmin\u002F1.73 m2 based on cystatin C.\n* Men with a Fridericia-corrected QT interval (QTcF) \\> 450 msec and women with a QTcF \\> 460 msec at Screening.\n* Presence or history of any condition, laboratory abnormality, or infection that, in the Investigator's judgment, would interfere with participation, pose undue safety risk, or confound interpretation of study results.\n* Pregnant or breastfeeding at Screening or planning to become pregnant (self or partner) at any time during the study.\n* Use of any investigational product or investigational medical device within 30 days prior to Screening or requirement for any investigational agent prior to completion of all scheduled study assessments.","18 Years","55 Years",{"count":183,"type":22},24,[185,25],"PHASE1","The main goal of this study is to evaluate the safety of UX016 and to evaluate the impact of UX016 on muscle strength in adults with GNE Myopathy (GNEM).",[188],"GNE Myopathy",[190,191,192,193,194],"GNEM","Hereditary Inclusion Body Myopathy (HIBM)","Distal Myopathy with Rimmed Vacuoles (DMRV)","Inclusion Body Myopathy 2 (IBM2)","Nonaka Myopathy","NOT_YET_RECRUITING","2026-03-30",{"date":144,"type":34},{"date":199,"type":22},"2026-10",{"date":201,"type":22},"2028-12",{"name":40,"class":41},2,""]