257. 肝型糖原病 Hepatic glycogenosis Clinical trials / Disease details


臨床試験数 : 14 薬物数 : 28 - (DrugBank : 7) / 標的遺伝子数 : 3 - 標的パスウェイ数 : 8

  
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PhaseCountries
1EUCTR2021-000903-19-IT
(EUCTR)
14/12/202124/05/2021A first-in-human study of UX053 in Patients with Glycogen Storage Disease type III (GSD III)A Phase 1/2 First-in-human, 2-part Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses (Part 1: Open-label) and Repeat Doses (Part 2: Randomized, Double-blind, Placebo-controlled) of UX053 in Patients with GSD III - UX053-CL101 Glycogen Storage Disease Type III (GSD III)
MedDRA version: 20.1;Level: PT;Classification code 10053250;Term: Glycogen storage disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: mRNA che codifica l’enzima umano deramificante del glicogeno formulato in una nanopaticella lipidica
Product Code: [UX053]
Product Name: dexamethasone (or equivalent)
Product Code: [-]
ULTRAGENYX PHARMACEUTICAL INC.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
30Phase 1;Phase 2France;United States;Canada;Spain;Germany;United Kingdom;Italy
2EUCTR2021-000903-19-ES
(EUCTR)
26/11/202120/07/2021A first-in-human study of UX053 in Patients with Glycogen Storage Disease type III (GSD III)A Phase 1/2 First-in-human, 2-part Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses (Part 1: Open-label) and Repeat Doses (Part 2: Randomized, Double-blind, Placebo-controlled) of UX053 in Patients with GSD III Glycogen Storage Disease Type III (GSD III)
MedDRA version: 20.1;Level: PT;Classification code 10053250;Term: Glycogen storage disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Product Name: mRNA encoding the human glycogen debranching enzyme formulated in a lipid nanoparticle delivery
Product Code: UX053
INN or Proposed INN: Not yet available
Other descriptive name: mRNA encoding the human glycogen debranching enzyme
Ultragenyx Pharmaceutical Inc.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
30Phase 1;Phase 2France;United States;Canada;Spain;Germany;United Kingdom;Italy
3NCT04990388
(ClinicalTrials.gov)
October 18, 202126/7/2021Safety, Tolerability, and Pharmacokinetics of UX053 in Patients With Glycogen Storage Disease Type III (GSD III)A Phase 1/2 First-in-human, 2-part Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses (Part 1: Open-label) and Repeat Doses (Part 2: Randomized, Double-blind, Placebo-controlled) of UX053 in Patients With GSD IIIGlycogen Storage Disease Type IIIBiological: UX053;Other: Placebo;Drug: Antipyretic;Drug: H2 Blocker;Drug: H1 BlockerUltragenyx Pharmaceutical IncNULLRecruiting18 YearsN/AAll30Phase 1/Phase 2United States;Canada;France;Italy;Spain;United Kingdom
4NCT04930627
(ClinicalTrials.gov)
July 202111/6/2021Safety and Efficacy of Empagliflozin in GSD1b Patients With NeutropeniaEvaluation of Efficacy and Safety of Empagliflozin in Treatment of Neutropenia in Patients With Glycogenosis IbGlucose 6 Phosphatase DeficiencyDrug: EmpagliflozinChildren's Memorial Health Institute, PolandDepartment of Internal Medicine, Hypertension and Vascular Diseases, The Medical University of WarsawNot yet recruitingN/AN/AAll20Phase 2Poland
5NCT03665636
(ClinicalTrials.gov)
October 16, 202023/8/2018Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type IAnaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type IGlycogen Storage Disease Type IDrug: TriheptanoinAreeg El-GharbawyUltragenyx Pharmaceutical IncCompleted1 Month65 YearsAll4Early Phase 1United States
6NCT04138251
(ClinicalTrials.gov)
June 20, 201920/6/2019Safety, Efficacy Evaluation of Empagliflozin Administration for Neutropenia in Glycogenosis Type 1b and G6PC3 DeficiencyEvaluation of the Safety and Efficacy of Empagliflozin Administration as a Treatment for Neutropenia in Patients With Glycogenosis Type 1b and G6PC3 DeficiencyGlycogen Storage Disease Type I;Glucose 6 Phosphatase DeficiencyDrug: EmpagliflozinCliniques universitaires Saint-Luc- Université Catholique de LouvainNULLRecruiting1 Year18 YearsAll5Phase 2Belgium
7EUCTR2017-004153-17-DK
(EUCTR)
03/05/201826/03/2018The effect of Triheptanoin on excercise in adults and adolescence with glycogenosesEvaluation of the effect of Triheptanoin on fatty acid oxidation and exercise tolerance in patients with debrancher deficiency, glycogenin-1 deficiency and phosphofructokinase deficiency at rest and during exercise. A randomized, double-blind, placebo-controlled, cross-over study. - Triheptanoin in Glycogenoses Cori Forbe's Disease Also called: glycogen storage disease Type III or debrancher deficiency.Tarui's diseaseAlso called: glycogen storage disease Type VII or phosphofructokinase deficiency.Glycogenin-1 deficiency or glycogen storage disease Type XV.
MedDRA version: 20.1;Level: PT;Classification code 10053241;Term: Glycogen storage disease type VII;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.1;Classification code 10053250;Term: Glycogen storage disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders
MedDRA version: 20.0;Level: LLT;Classification code 10053255;Term: Tarui disease;Classification code 10016983;Term: Forbes' disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Triheptanoin
Product Code: UX007
INN or Proposed INN: Not available
Other descriptive name: TRIHEPTANOIN
Copenhagen Neuromuscular CenterNULLNot RecruitingFemale: yes
Male: yes
20Phase 2Denmark
8NCT03871673
(ClinicalTrials.gov)
April 29, 20179/3/2019The Use of Uncooked Sweet Polvilho to Treat Hepatic Glycogen Storage DiseasesA Novel Approach to Treatment of Hepatic Glycogen Storage Diseases: a Study Based on the Use of Uncooked Sweet PolvilhoGlycogen Storage Disease Type IDietary Supplement: sweet polvilho;Dietary Supplement: CornstarchHospital de Clinicas de Porto AlegreConselho Nacional de Desenvolvimento Científico e Tecnológico;Fundação Médica do Rio Grande do SulActive, not recruiting16 YearsN/AAll11N/ABrazil
9NCT03218904
(ClinicalTrials.gov)
March 17, 201713/7/2017Glycogen Storage Disease Breath Test StudyApplication of Novel Techniques to Devise Nutritional Therapies in Subjects With Glycogen Storage Disease Type IPatient Compliance;HealthyDietary Supplement: Glucose intake;Dietary Supplement: Carbohydrates intakeUniversity of British ColumbiaSaudi Arabian Cultural Bureau, Ottawa;Canadian Institutes of Health Research (CIHR)Recruiting5 Years35 YearsAll38N/ACanada
10NCT02448667
(ClinicalTrials.gov)
January 201515/5/2015Energy Supplements to Improve Exercise Tolerance in Metabolic MyopathiesEnergy Supplements to Improve Exercise Tolerance in Metabolic MyopathiesGlycogen Storage Disease Type IIIDietary Supplement: FAXE Kondi;Dietary Supplement: Faxe Kondi FreeRigshospitalet, DenmarkNULLRecruiting18 YearsN/AAll15N/ADenmark
11NCT02176096
(ClinicalTrials.gov)
July 201424/6/2014Comparison of the Effect of a Novel Starch (Glycosade) Versus Gastrostomy Tube-Dextrose Infusion on Overnight Euglycaemia Control in Children With Glycogen Storage Disease Type I: Open Label Demonstration TrialComparison of the Effect of a Novel Starch (Glycosade) Versus Gastrostomy Tube-Dextrose Infusion on Overnight Euglycaemia Control in Children With Glycogen Storage Disease Type I: Open Label Demonstration TrialGlycogen Storage Disorder Type 1;Hypoglycemia;Cornstarch;GlycosadeDietary Supplement: GlycosadeUniversity of ManitobaCo-Investigator - Dr. Cheryl Rockman-GreenbergCompleted5 Years18 YearsAll4N/ACanada
12NCT02054832
(ClinicalTrials.gov)
November 201331/1/2014Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked CornstarchA Comparison of Quality of Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard and Modified Uncooked CornstarchGlycogen Storage Disease Type IA;Glycogen Storage Disease Type IB;Glycogen Storage Disease Type III;Glycogen Storage Disease Type 0Dietary Supplement: GlycosadeJohn MitchellNULLCompleted2 Years50 YearsBoth11N/ACanada
13NCT00947960
(ClinicalTrials.gov)
June 200924/7/2009Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body DiseaseA Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled StudyAdult Polyglucosan Body Disease;Glycogen Brancher Enzyme Deficiency;Glycogen Storage Disease Type IVDrug: Triheptanoin;Other: Vegetable OilBaylor Research InstituteUltragenyx Pharmaceutical IncCompleted18 Years75 YearsAll23Phase 2France;United States
14EUCTR2006-005449-12-IT
(EUCTR)
11/10/200623/05/2007EVALUATION OF THE EFFICACY OF THE TREATMENT WITH ACE-INHIBITORS ON THE RENAL DAMAGE IN PATIENTS AFFECTED BY GLYCOGEN STORAGE DISEASE TYPE 1 AND OF THE VITAMINE E ON NEUTROPENIA OF PATIENTS WITH GSD1b - GSD1: study of specific therapeutic interventionEVALUATION OF THE EFFICACY OF THE TREATMENT WITH ACE-INHIBITORS ON THE RENAL DAMAGE IN PATIENTS AFFECTED BY GLYCOGEN STORAGE DISEASE TYPE 1 AND OF THE VITAMINE E ON NEUTROPENIA OF PATIENTS WITH GSD1b - GSD1: study of specific therapeutic intervention As concern objective number 1: Patients affected by glycogen storage disease (GSD) type 1a and patients affected by GSD1b with renal dysfunction including glomerular hyperfiltration, microalbuminuria and/or proteinuria As concern objective number 2: Patients affected by GSD1b showing neutropenia
MedDRA version: 9.1;Level: LLT;Classification code 10018464;Term: Glycogen storage disease type I
Trade Name: QUARK
INN or Proposed INN: Ramipril
Trade Name: EPHYNAL
INN or Proposed INN: Tocopherol (vit E)
Dipartimento di PediatriaNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Italy