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Condition: Lysosomal Storage Disorders Synced from ClinicalTrials.gov · July 31, 2026

Recruiting studies: Lysosomal Storage Disorders

Studies currently listed as recruiting on the public registry for this search term. Each page explains the study in plain language, with locations and the study team's contact details. Clinicians: generate a printable list for your patient →

Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease
Phase N/A · 1 location(s) · Mackay Memorial Hospital · NCT05698901the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease
Phase N/A · 1 location(s) · Caroline Michaela Kistorp · NCT06776419Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
Phase 2 · 28 location(s) · Shionogi · NCT07123155Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Phase N/A · 2 location(s) · Sanford Health · NCT01793168A Study of Agalsidase Alfa Enyzme Replacement Therapy in Chinese Children and Adults With Fabry Disease
Phase N/A · 18 location(s) · Takeda · NCT07187440A Long-term Follow-up Study of Gaucher Disease
Phase N/A · 1 location(s) · Duke University · NCT03190837Early Trial of Allogeneic Hematopoietic Stem Cell Transplantation for Patients Who Will Receive a Kidney Transplant From
Phase 1/Phase 2 · 1 location(s) · Alice Bertaina · NCT05508009Cognitive and Neurological Pathologies in Pompe Disease
Phase N/A · 1 location(s) · Duke University · NCT04639336A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years
Phase N/A · 5 location(s) · Sanofi · NCT06192576Maternal and Postnatal Outcomes Study (MOS): A Global Observational Registry Assessing the Safety of Elfabrio® in Women
Phase N/A · 5 location(s) · Chiesi Farmaceutici S.p.A. · NCT06941025Development of Health-related Quality of Life Instrument for Patients With Cystinosis
Phase N/A · 1 location(s) · Cystinose Stiftung · NCT05959668Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients
NA · 1 location(s) · University Hospital, Montpellier · NCT05858606Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Technique
Phase N/A · 1 location(s) · Chinese Academy of Medical Sciences, Fuwai Hospital · NCT07336394Multimodal and Multidisciplinary Approach to Optimize Diagnostic, Prognostic, and Therapeutic Management of Patients wit
Phase N/A · 1 location(s) · Scientific Institute San Raffaele · NCT06607471A Study of the Safety and Preliminary Efficacy of LY-M001 Injection in the Treatment of Adult Patients With Gaucher Dise
NA · 1 location(s) · He Huang · NCT06162338Canadian Fabry Disease Initiative (CFDI) National Registry
Phase N/A · 5 location(s) · Canadian Fabry Research Consortium · NCT00455104A Study of Replagal in Children and Adults With Fabry Disease in India
Phase 4 · 3 location(s) · Shire · NCT05067868A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
Phase N/A · 2 location(s) · University Hospital, Rouen · NCT04393701Cardiac Structure and Function in MPS
Phase N/A · 3 location(s) · Children's Hospital of Orange County · NCT07361536A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niem
Phase 3 · 34 location(s) · Azafaros B.V. · NCT07082725Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Phase N/A · 1 location(s) · Eunice Kennedy Shriver National Institute of Child Health an · NCT03307304A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease
Phase 2/Phase 3 · 12 location(s) · Chiesi Farmaceutici S.p.A. · NCT06328608Data Collection of Patients With Rare Bone Diseases
Phase N/A · 1 location(s) · Luca Sangiorgi · NCT05247645Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease
Phase N/A · 1 location(s) · IRCCS National Neurological Institute "C. Mondino" Foundatio · NCT07664930Analysis of Velmanase Alfa (Lamzede®)'s Effects in the Body of Children With Alpha-Mannosidosis Under the Age 3
Phase N/A · 2 location(s) · Chiesi Farmaceutici S.p.A. · NCT06184503UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
Phase 1 · 1 location(s) · Joanne Kurtzberg, MD · NCT02254863PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
Phase 1 · 1 location(s) · University of California, San Francisco · NCT04532047RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseas
Phase N/A · 17 location(s) · Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · NCT06935578Evaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry Disease
EARLY_Phase 1 · 1 location(s) · Children's Hospital of Fudan University · NCT06207552European Cystinosis Cohort
Phase N/A · 1 location(s) · Institut National de la Santé Et de la Recherche Médicale, F · NCT05901077
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This page is independently generated by Eichor from the public ClinicalTrials.gov record and re-synced daily. It is not the sponsor's official website unless claimed. Nothing here is medical advice; eligibility is always determined by the study team — talk to your own doctor first.