Clinical Trials List

NCT # (link)	Study Title	Status	Conditions	Intervention	Sponsors	Study Type
NCT05705674	The Natural Hisotory Study of Patients With Sanfilippo Disease(s) (MPS3)	RECRUITING	Sanfilippo Disease			OBSERVATIONAL
NCT04552691	Open-Label Expanded Access Treatment With Pegunigalsidase Alfa for Fabry Disease Patients	RECRUITING	Fabry Disease	DRUG: Pegunigalsidase Alfa	Chiesi Farmaceutici S.p.A.	EXPANDED ACCESS
NCT04020055	A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease.	RECRUITING	Fabry Disease	DRUG: migalastat HCl 150 mg	Amicus Therapeutics	INTERVENTIONAL
NCT05487599	A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)	RECRUITING	Gaucher Disease\| Gaucher Disease, Type 1	GENETIC: LY3884961	Prevail Therapeutics	INTERVENTIONAL
NCT04565015	Study of Immune Globulin Intravenous (Human) GC5107 in Pediatric Subjects With Primary Humoral Immunodeficiency	RECRUITING	Primary Immune Deficiency	BIOLOGICAL: GC5107	Green Cross Corporation	INTERVENTIONAL
NCT03911505	ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/ AT2221 in Pediatrics Aged: 0 to < 18 y.o. w/LOPD	RECRUITING	Pompe Disease (Late-onset)	BIOLOGICAL: Cipaglucosidase Alfa \|DRUG: Miglustat	Amicus Therapeutics	INTERVENTIONAL
NCT04718779	A Study of Enzyme Replacement Therapy (VPRIV) in People With Type 1 Gaucher Disease Who Were Previously Treated With Substrate Reduction Therapy	COMPLETED	Gaucher Disease	OTHER: Digital Engagement Application (GD App)\|OTHER: No Intervention	Takeda	INTERVENTIONAL
NCT05222906	Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3	RECRUITING	Gaucher Disease Type 3	DRUG: Venglustat\|DRUG: imiglucerase	Sanofi	INTERVENTIONAL
NCT02795676	Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function	COMPLETED	Fabry Disease	BIOLOGICAL: PRX-102 (pegunigalsidase alfa)\| BIOLOGICAL: agalsidase beta	Protalix	INTERVENTIONAL
NCT03729362	A Study Comparing ATB200/ AT2221 With Alglucosidase Alfa/ Placebo in Adult Subjects With Late-onset Pompe Disease	COMPLETED	Pompe Disease (Late-onset)	BIOLOGICAL: Cipaglucosidase Alfa\| DRUG: Miglustat\| BIOLOGICAL: Alglucosidase Alfa\| DRUG: Placebo	Amicus Therapeutics	INTERVENTIONAL
NCT04470713	Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2	COMPLETED	GM1 Gangliosidosis\| GM2 Gangliosidosis\| Gaucher Disease, Type 2\| Tay-Sachs Disease\| AB Variant Gangliosidosis GM2\| Sandhoff Disease	DRUG: Pegunigalsidase Alfa	Idorsia Pharmaceuticals Ltd.	OBSERVATIONAL
NCT05186324	Fabry Patient's Experience Of PegunigaLsidasE Alfa Monthly Infusion	COMPLETED	Fabry Disease	OTHER: Interview	Chiesi Farmaceutici S.p.A.	OBSERVATIONAL
NCT03425539	Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease	COMPLETED	Fabry Disease	DRUG: Lucerastat\|DRUG: Placebo	Idorsia Pharmaceuticals Ltd.	INTERVENTIONAL
NCT04721366	A Study of Velaglucerase Alfa (VPRIV) Given as Standard Patient Care in Young Children With Gaucher Disease	COMPLETED	Gaucher Disease	OTHER: Standard of Care	Takeda	OBSERVATIONAL
NCT03500094	Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)	COMPLETED	Fabry Disease	DRUG: Migalastat HCl 150 mg	Amicus Therapeutics	INTERVENTIONAL
NCT02782741	Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease	COMPLETED	Glycogen Storage Disease Type II; Pompe's Disease	DRUG: Avalglucosidase alfa (GZ402666)\| DRUG: Alglucosidase alfa (GZ419829)	Genzyme, a Sanofi Company	INTERVENTIONAL
NCT05280548	A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease	ACTIVE NOT RECRUITING	Fabry Disease	DRUG: Venglustat (GZ402671) \|DRUG: Agalsidase alfa \|DRUG: Agalsidase beta (GZ419828) \|DRUG: Migalastat	Sanofi	INTERVENTIONAL
NCT04049760	Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease	COMPLETED	Fabry Disease	DRUG: migalastat HCl 150 mg	Amicus Therapeutics	INTERVENTIONAL
NCT05206773	A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants â‰¥16 Years of Age With Fabry Disease	ACTIVE NOT RECRUITING	Fabry Disease	DRUG: Venglustat (GZ402671)\| DRUG: Placebo	Sanofi	INTERVENTIONAL
NCT03566017	Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease	ACTIVE NOT RECRUITING	Fabry Disease	DRUG: Pegunigalsidase Alfa	Chiesi Farmaceutici S.p.A.	INTERVENTIONAL
NCT04519749	An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease	ACTIVE NOT RECRUITING	Fabry Disease	BIOLOGICAL: 4D-310	4D Molecular Therapeutics	INTERVENTIONAL
NCT03737214	A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease	ACTIVE NOT RECRUITING	Fabry Disease	DRUG: Lucerastat	Idorsia Pharmaceuticals Ltd.	INTERVENTIONAL
NCT04093349	A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)	ACTIVE NOT RECRUITING	Pompe Disease\|Pompe Disease (Late-onset)\|Glycogen Storage Disease Type 2\|Glycogen Storage Disease Type II\|LOPD\|Lysosomal Storage Diseases\|Acid Maltase Deficiency	GENETIC: SPK-3006	Spark Therapeutics	INTERVENTIONAL
NCT04860960	Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1	ACTIVE NOT RECRUITING	Niemann-Pick Disease, Type C1	DRUG: Hydroxypropyl-beta-cyclodextrin\| DRUG: Placebo	Cyclo Therapeutics, Inc.	INTERVENTIONAL
NCT04138277	A Study to Assess the Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With LOPD	ACTIVE NOT RECRUITING	Pompe Disease (Late-onset)	DRUG: AT2221\| BIOLOGICAL: ATB200	Amicus Therapeutics	INTERVENTIONAL
NCT05324943	A Gene Therapy Study in Patients With Gaucher Disease Type 1	ACTIVE NOT RECRUITING	Gaucher Disease, Type 1	GENETIC: FLT201	Freeline Therapeutics	INTERVENTIONAL
NCT03614234	Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients	ACTIVE NOT RECRUITING	Fabry Disease	DRUG: Pegunigalsidase Alfa	Chiesi Farmaceutici S.p.A.	INTERVENTIONAL
NCT02843035	Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension	ACTIVE NOT RECRUITING	Gaucher Disease Type 1\| Gaucher Disease Type 3	DRUG: venglustat (GZ402671)\|DRUG: imiglucerase	Genzyme, a Sanofi Company	INTERVENTIONAL
NCT04046224	Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR)	ACTIVE NOT RECRUITING	Fabry Disease	BIOLOGICAL: ST-920	Sangamo Therapeutics	INTERVENTIONAL
NCT03812042	Screening of Lysosomal Storage Disorders Diseases in Minority Groups	UNKNOWN	Lysosomal Storage Diseases	DIAGNOSTIC TEST: Enzyme assay and molecular sequencing	Lysosomal and Rare Disorders Research and Treatment Center, Inc.	OBSERVATIONAL
NCT04055831	Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease	UNKNOWN	Gaucher Disease Type 1		Lysosomal and Rare Disorders Research and Treatment Center, Inc.	OBSERVATIONAL
NCT04724083	Inflammatory Pathways and Cardiac Growth Factors Associated With Fabry Disease Cardiomyopathy	UNKNOWN	Fabry Disease	DIAGNOSTIC_TEST: biomarkers	Lysosomal and Rare Disorders Research and Treatment Center, Inc.	OBSERVATIONAL
NCT03811496	Biomarker Analysis for GBA Associated Parkinson's Disease	UNKNOWN	Parkinson Disease\| Gaucher Disease	DRUG: Pegunigalsidase Alfa	Lysosomal and Rare Disorders Research and Treatment Center, Inc.	OBSERVATIONAL
NCT03812055	Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders	UNKNOWN	Lysosomal Storage Diseases		Lysosomal and Rare Disorders Research and Treatment Center, Inc.	OBSERVATIONAL
NCT03021941	Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease	WITHDRAWN	Type 1 Gaucher Disease	DRUG: Elelyso 60 units/kg	Pfizer	INTERVENTIONAL
NCT05238324	Safety and Efficacy of HMI-203 in ERT-Treated Adults With MPS II	WITHDRAWN	Mucopolysaccharidosis II	BIOLOGICAL: Genetic HMI-203	Homology Medicines, Inc	INTERVENTIONAL
NCT04040049	A Fabry Disease Gene Therapy Study	TERMINATED	Fabry Disease \| Lysosomal Storage Diseases	GENETIC: FLT190	Freeline Therapeutics	INTERVENTIONAL