19. ライソゾーム病 Lysosomal storage disease Clinical trials / Disease details
臨床試験数 : 899 / 薬物数 : 684 - (DrugBank : 99) / 標的遺伝子数 : 51 - 標的パスウェイ数 : 182
Showing 1 to 10 of 74 diseases
| 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 | JPRN-jRCT2071220022 | 14/07/2022 | 25/06/2022 | A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry disease A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and fema ... | A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglusta ... | Fabry's disease | Drug: Venglustat (GZ402671) Pharmaceutical form: Tablet, Route of administration: Oral Drug: Agalsidase alfa Pharmaceutical form: Concentrate for solution for infusion, Route of administration: IV infusion Drug: Agalsidase beta (GZ419828) Pharmaceutical form: Powder for concentrate for solution for infusion, Route of administration: IV infusion Drug: Migalastat Pharmaceutical form: Hard capsules, Route of administration: Oral Drug: Venglustat(GZ402671) Pharmaceutical form: Tablet, Route of administration: Oral Drug: Agalsidase ... | Tanaka Tomoyuki | NULL | Recruiting | >= 18age old | <= 65age old | Both | 90 | Phase 3 | China;Italy;Republic of Korea;Japan |
| 2 | NCT05228145 (ClinicalTrials.gov) | January 31, 2022 | 17/12/2021 | Gene Therapy Study for Children With CLN5 Batten Disease | A Phase 1/2 Intracerebroventricular and Intravitreal Administration of NGN-101 for Treatment of Neuronal Ceroid Lipofuscinosis (NCL) Subtype 5 (CLN5) Disease A Phase 1/2 Intracerebroventricular and Intravitreal Administrationof NGN-101 for Treatment of Neuro ... | Neuronal Ceroid Lipofuscinosis CLN5 | Genetic: NGN-101 | Neurogene Inc. | NULL | Recruiting | 3 Years | 9 Years | All | 6 | Phase 1/Phase 2 | United States;United Kingdom |
| 3 | JPRN-jRCT2031210279 | 15/09/2021 | 27/08/2021 | An open label interventional single-patient study to evaluate the safety of olipudase alfa enzyme replacement therapy for the patient in Japan with acid sphingomyelinase deficiency (ASMD) who has completed Study DFI12712 An open label interventional single-patient study to evaluate the safety of olipudase alfa enzyme re ... | An open label interventional single-patient study to evaluate the safety of olipudase alfa enzyme replacement therapy for the patient in Japan with acid sphingomyelinase deficiency (ASMD) who has completed Study DFI12712 An open label interventional single-patient study to evaluate the safety of olipudase alfa enzyme re ... | Acid sphingomyelinase deficiency | Drug: Olipudase alfa (GZ402665) Pharmaceutical form: lyophilized powder, Route of administration: Intravenous (IV) infusion. Drug: Olipudase alfa(GZ402665) Pharmaceutical form: lyophilized powder, Route of administration: Intr ... | Tanaka Tomoyuki | NULL | Not Recruiting | >= 20age old | Not applicable | Both | 1 | Phase 2-3 | Japan |
| 4 | EUCTR2019-002936-97-FR (EUCTR) | 06/07/2021 | 09/02/2021 | A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving th ... | A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving th ... | MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease. MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) g ... | Product Name: rAAV9.CMV.hNAGLU Product Code: ABO-101 INN or Proposed INN: rAAV9.CMV.hNAGLU Other descriptive name: Adeno-associated viral vector serotype 9 containing the human N-acetyl-alpha-glucosaminidase gene Product Name: rAAV9.CMV.hNAGLU Product Code: ABO-101 INN or Proposed INN: rAAV9.CMV.hNAGLU Other descri ... | Abeona Therapeutics Europe SL. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 1;Phase 2 | United States;France;Germany | ||
| 5 | NCT04669535 (ClinicalTrials.gov) | January 15, 2021 | 23/11/2020 | A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease | A Two-Stage, Dose-Escalation and Safety & Efficacy Study of Bilateral Intraparenchymal Thalamic and Intracisternal/Intrathecal Administration of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease A Two-Stage, Dose-Escalation and Safety & Efficacy Study of Bilateral Intraparenchymal Thalamic and ... | Tay-Sachs Disease;Sandhoff Disease | Biological: AXO-AAV-GM2 Starting Dose;Biological: AXO-AAV-GM2 Low Dose;Biological: AXO-AAV-GM2 Middle Dose;Biological: AXO-AAV-GM2 High Dose Biological: AXO-AAV-GM2 Starting Dose;Biological: AXO-AAV-GM2 Low Dose;Biological: AXO-AAV-GM2 Middl ... | Terence Flotte | University of Massachusetts, Worcester;Massachusetts General Hospital | Active, not recruiting | 6 Months | 12 Years | All | 7 | Phase 1 | United States |
| 6 | NCT04655911 (ClinicalTrials.gov) | October 28, 2020 | 17/11/2020 | A Long-term Follow-up Study of Patients With MPS IIIB Treated With ABO-101 | A Long-term Follow-up Study of Patients With MPS IIIB From Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) A Long-term Follow-up Study of Patients With MPS IIIB From Gene Therapy Clinical Trials Involving th ... | Mucopolysaccharidosis III-B | Biological: ABO-101 | Abeona Therapeutics, Inc | NULL | Terminated | N/A | N/A | All | 1 | United States;France;Germany | |
| 7 | JPRN-jRCT2021200023 | 27/10/2020 | 09/10/2020 | A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late onset GM2 A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmaco ... | A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late onset GM2 gangliosidosis and ultra rare diseases within the same and similar glucosylceramide-based sphingolipid pathway A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the effic ... | Tay-Sachs Disease, Sandhoff Disease | Drug: venglustat GZ402671 - Pharmaceutical form: tablet - Route of administration: oral Drug: placebo - Pharmaceutical form: tablet - Route of administration: oral Drug: venglustatGZ402671 - Pharmaceutical form: tablet - Route of administration: oral Drug: placebo - P ... | Tanaka Tomoyuki | NULL | Not Recruiting | >= 2age old | Not applicable | Both | 77 | Phase 3 | Spain;United States;Brazil;Russian Federation;United Kingdom;Argentina;Austria;Czechia;Germany;Italy;Portugal;Turkey;France;Japan Spain;United States;Brazil;Russian Federation;United Kingdom;Argentina;Austria;Czechia;Germany;Italy ... |
| 8 | NCT04360265 (ClinicalTrials.gov) | September 28, 2020 | 20/4/2020 | A Long-term Follow-up Study of Patients With MPS IIIA Treated With ABO-102 | A Long-term Follow-up Study of Patients With MPS IIIA From Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) A Long-term Follow-up Study of Patients With MPS IIIA From Gene Therapy Clinical Trials Involving th ... | Mucopolysaccharidosis III-A | Biological: ABO-102 | Ultragenyx Pharmaceutical Inc | Abeona Therapeutics, Inc | Enrolling by invitation | N/A | N/A | All | 50 | United States;Australia;Spain | |
| 9 | NCT04476862 (ClinicalTrials.gov) | August 19, 2020 | 15/7/2020 | Cerliponase Alfa Observational Study in the US | Cerliponase Alfa Observational Study | Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 | Drug: Cerliponase Alfa;Device: Administration Kit | BioMarin Pharmaceutical | NULL | Recruiting | N/A | N/A | All | 35 | United States | |
| 10 | EUCTR2019-002979-34-ES (EUCTR) | 18/05/2020 | 25/05/2020 | A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving th ... | A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving th ... | MPS IIIA is a devastating lysosomal storage disease, caused by a Nsulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatmentcurrently available for the disease. MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] MPS IIIA is a devastating lysosomal storage disease, caused by a Nsulfoglucosamine sulfohydrolase ge ... | Product Name: scAAV9.U1A.hSGSH Product Code: ABO-102 INN or Proposed INN: Rebisufligene etisparvovec | Abeona Therapeutics Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 34 | Phase 1;Phase 2 | Germany;United States;France;Spain;Australia |