257. 肝型糖原病 Hepatic glycogenosis Clinical trials / Disease details
臨床試験数 : 14 / 薬物数 : 27 - (DrugBank : 7) / 標的遺伝子数 : 3 - 標的パスウェイ数 : 8
| No. | TrialID | Date_ enrollment | Date_ registration | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | EUCTR2021-000903-19-IT (EUCTR) | 14/12/2021 | 24/05/2021 | A 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. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 30 | Phase 1;Phase 2 | France;United States;Canada;Spain;Germany;United Kingdom;Italy | ||
| 2 | EUCTR2021-000903-19-ES (EUCTR) | 26/11/2021 | 20/07/2021 | A 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. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 30 | Phase 1;Phase 2 | France;United States;Canada;Spain;Germany;United Kingdom;Italy | ||
| 3 | NCT04990388 (ClinicalTrials.gov) | October 18, 2021 | 26/7/2021 | Safety, Tolerability, and Pharmacokinetics of UX053 in Patients With Glycogen Storage Disease Type III (GSD III) | A Phase 1/2 First-in-human, Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses and Repeat Doses of UX053 in Patients With GSD III | Glycogen Storage Disease Type III | Biological: UX053;Other: Placebo;Drug: Antipyretic;Drug: H2 Blocker;Drug: H1 Blocker | Ultragenyx Pharmaceutical Inc | NULL | Active, not recruiting | 18 Years | N/A | All | 8 | Phase 1/Phase 2 | United States;Canada;France;Italy;Spain;United Kingdom |
| 4 | NCT04930627 (ClinicalTrials.gov) | July 2021 | 11/6/2021 | Safety and Efficacy of Empagliflozin in GSD1b Patients With Neutropenia | Evaluation of Efficacy and Safety of Empagliflozin in Treatment of Neutropenia in Patients With Glycogenosis Ib | Glucose 6 Phosphatase Deficiency | Drug: Empagliflozin | Children's Memorial Health Institute, Poland | Department of Internal Medicine, Hypertension and Vascular Diseases, The Medical University of Warsaw | Not yet recruiting | N/A | N/A | All | 20 | Phase 2 | Poland |
| 5 | NCT03665636 (ClinicalTrials.gov) | October 16, 2020 | 23/8/2018 | Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I | Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I | Glycogen Storage Disease Type I | Drug: Triheptanoin | Areeg El-Gharbawy | Ultragenyx Pharmaceutical Inc | Completed | 1 Month | 65 Years | All | 4 | Early Phase 1 | United States |
| 6 | NCT04138251 (ClinicalTrials.gov) | June 20, 2019 | 20/6/2019 | Safety, Efficacy Evaluation of Empagliflozin Administration for Neutropenia in Glycogenosis Type 1b and G6PC3 Deficiency | Evaluation of the Safety and Efficacy of Empagliflozin Administration as a Treatment for Neutropenia in Patients With Glycogenosis Type 1b and G6PC3 Deficiency | Glycogen Storage Disease Type I;Glucose 6 Phosphatase Deficiency | Drug: Empagliflozin | Cliniques universitaires Saint-Luc- Université Catholique de Louvain | NULL | Recruiting | 1 Year | 18 Years | All | 5 | Phase 2 | Belgium |
| 7 | EUCTR2017-004153-17-DK (EUCTR) | 03/05/2018 | 26/03/2018 | The effect of Triheptanoin on excercise in adults and adolescence with glycogenoses | Evaluation 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 Center | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2 | Denmark | ||
| 8 | NCT03871673 (ClinicalTrials.gov) | April 29, 2017 | 9/3/2019 | The Use of Uncooked Sweet Polvilho to Treat Hepatic Glycogen Storage Diseases | A Novel Approach to Treatment of Hepatic Glycogen Storage Diseases: a Study Based on the Use of Uncooked Sweet Polvilho | Glycogen Storage Disease Type I | Dietary Supplement: sweet polvilho;Dietary Supplement: Cornstarch | Hospital de Clinicas de Porto Alegre | Conselho Nacional de Desenvolvimento Científico e Tecnológico;Fundação Médica do Rio Grande do Sul | Active, not recruiting | 16 Years | N/A | All | 11 | N/A | Brazil |
| 9 | NCT03218904 (ClinicalTrials.gov) | March 17, 2017 | 13/7/2017 | Glycogen Storage Disease Breath Test Study | Application of Novel Techniques to Devise Nutritional Therapies in Subjects With Glycogen Storage Disease Type I | Patient Compliance;Healthy | Dietary Supplement: Glucose intake;Dietary Supplement: Carbohydrates intake | University of British Columbia | Saudi Arabian Cultural Bureau, Ottawa;Canadian Institutes of Health Research (CIHR) | Recruiting | 5 Years | 35 Years | All | 38 | N/A | Canada |
| 10 | NCT02448667 (ClinicalTrials.gov) | January 2015 | 15/5/2015 | Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies | Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies | Glycogen Storage Disease Type III | Dietary Supplement: FAXE Kondi;Dietary Supplement: Faxe Kondi Free | Rigshospitalet, Denmark | NULL | Recruiting | 18 Years | N/A | All | 15 | N/A | Denmark |
| 11 | NCT02176096 (ClinicalTrials.gov) | July 2014 | 24/6/2014 | Comparison 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 Trial | Comparison 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 Trial | Glycogen Storage Disorder Type 1;Hypoglycemia;Cornstarch;Glycosade | Dietary Supplement: Glycosade | University of Manitoba | Co-Investigator - Dr. Cheryl Rockman-Greenberg | Completed | 5 Years | 18 Years | All | 4 | N/A | Canada |
| 12 | NCT02054832 (ClinicalTrials.gov) | November 2013 | 31/1/2014 | Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch | A Comparison of Quality of Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard and Modified Uncooked Cornstarch | Glycogen Storage Disease Type IA;Glycogen Storage Disease Type IB;Glycogen Storage Disease Type III;Glycogen Storage Disease Type 0 | Dietary Supplement: Glycosade | John Mitchell | NULL | Completed | 2 Years | 50 Years | Both | 11 | N/A | Canada |
| 13 | NCT00947960 (ClinicalTrials.gov) | June 2009 | 24/7/2009 | Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease | A Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled Study | Adult Polyglucosan Body Disease;Glycogen Brancher Enzyme Deficiency;Glycogen Storage Disease Type IV | Drug: Triheptanoin;Other: Vegetable Oil | Baylor Research Institute | Ultragenyx Pharmaceutical Inc | Completed | 18 Years | 75 Years | All | 23 | Phase 2 | France;United States |
| 14 | EUCTR2006-005449-12-IT (EUCTR) | 11/10/2006 | 23/05/2007 | EVALUATION 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 | EVALUATION 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 Pediatria | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | Italy |