19. ライソゾーム病
［臨床試験数：784，薬物数：673（DrugBank：101），標的遺伝子数：68，標的パスウェイ数：184］
Searched query = "Lysosomal storage disease", "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease", "Niemann-Pick type C", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux-Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I-cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha-Mannosidosis", "Alpha-Mannosidase Deficiency", "Beta-Mannosidosis", "Beta-Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Kanzaki disease", "Pompe disease", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage disease", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.
| 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 | NCT03952637 (ClinicalTrials.gov) | August 19, 2019 | 15/5/2019 | A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human <=-Galactosidase in Type I and Type II GM1 Gangliosidosis | A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis | Lysosomal Diseases;Gangliosidosis;GM1 | Biological: AAV9-GLB1;Drug: Rituximab;Drug: Sirolimus;Drug: Methylprednisolone;Drug: Prednisone;Diagnostic Test: Audiology assessmentwith ABR;Diagnostic Test: Bone density scan (DEXA;Diagnostic Test: Electrocardiogram (EKG);Diagnostic Test: Echocardiogram;Other: Electroencephalogram (EEG) awake andextended overnight;Diagnostic Test: Laboratory tests;Procedure: Lumbar puncture;Procedure: Brain MRI/MRS/fMRI;Behavioral: Neurocognitive testing;Other: Neurology exam;Behavioral: PICC line placement;Procedure: Skeletal survey;Procedure: Skin biopsy;Procedure: Speech and modified barium swallow study;Procedure: Ophthalmology exam | National Human Genome Research Institute (NHGRI) | Axovant Sciences, Inc. | Recruiting | 6 Months | 12 Years | All | 45 | Phase 1;Phase 2 | United States |
| 2 | EUCTR2017-002430-23-IT (EUCTR) | 14/03/2018 | 09/03/2020 | Gene therapy study with autologous hemapoietic stem cells for patients affected by MPSIH | A phase I/II study evaluating safety and efficacy of autologous hematopoietic stem and progenitor cells genetically modified with IDUA lentiviral vector encoding for the human a-L-iduronidase gene for the treatment of patients affected by Mucopolysaccharidosis Type I, Hurler variant - TigetT10_MPS1H | Mucopolysaccharidosis type I Hurler MedDRA version: 20.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Other descriptive name: Cellule CD34+ autologhe trasdotte con IDUA LV codificante per il cDNA dell'alfa-L-iduronidasi Trade Name: BUSILVEX - 6 MG/ML - CONCENTRATO PER SOLUZIONE PER INFUSIONE - USO ENDOVENOSO - FLACONCINO - 10 ML 8 FLACONCINI INN or Proposed INN: BUSULFANO Other descriptive name: BUSULFANO Trade Name: FLUDARABINA ACCORD - 25 MG/ML CONCENTRATO PER SOLUZIONE INIETTABILE O PER INFUSIONE 5 FLACONCINI IN VETRO DA 2 ML INN or Proposed INN: FLUDARABINA FOSFATO Other descriptive name: FLUDARABINA FOSFATO Trade Name: MABTHERA - 2 FIALE 100 MG 10 ML INN or Proposed INN: RITUXIMAB Other descriptive name: RITUXIMAB Trade Name: MYELOSTIM - 34 1 FLACONCINO LIOFILIZZATO 33.6 MIU + SIRINGA PRERIEMPITA SOLVENTE 1 ML INN or Proposed INN: LENOGRASTIM Other descriptive name: LENOGRASTIM Trade Name: MOZOBIL - 20 MG/ML - SOLUZIONE INIETTABILE - USO SOTTOCUTANEO - F | OSPEDALE SAN RAFFAELE | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 6 | Phase 1 | Italy |