• Mucopolysaccharidosis VII Disease Monitoring Program (ClinicalTrials.gov ID: NCT03604835): This ongoing study aims to characterize MPS VII disease presentation and progression and assess long-term effectiveness and safety of vestronidase alfa. Inclusion criteria include confirmed diagnosis of MPS VII, written informed consent, by the patient or a legally authorized representative when indicated, and willingness to comply with study procedures. It is a multicenter study sponsored by Ultragenyx Pharmaceutical Inc., and study locations include centers in the United States, Argentina, Brazil, France, Germany, Netherlands, Portugal, and Spain. The study follows two cohorts: patients with MPS VII receiving vestronidase-alfa, and patients with MPS VII not receiving vestronidase-alfa. The primary outcomes measures are the clinical course of MPS VII disease, the long term effectiveness of vestronidase alfa, and the long-term safety of vestronidase-alfa. The estimated number of enrolled participants is 50, and the estimated study completion date is 2033. Link: https://clinicaltrials.gov/study/NCT03604835
• MPS (RaDiCo Cohort) (RaDiCo-MPS) (ClinicalTrials.gov ID: NCT06036693): This ongoing study aims to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of phenotypic data from French MPS patients. Inclusion criteria are confirmed diagnosis of MPS (including MPS VII) and signed informed consent. It is sponsored by the Institut National de la Santé Et de la Recherche Médicale, France, and there are multiple study locations in France. The primary outcome measures include the evaluation of clinical data of MPS (such as growth, signs and symptoms, complications, psychomotor milestones, cognitive evolution), imaging data (such as bone radiographs, echocardiography, abdominal echography, cerebral and medullary tomodensitometry, magnetic resonance imaging), electrophysiological data (such as electroencephalography, electromyography and electroretinography), biochemical data (such as enzyme activity, and specific antibodies), and molecular data. The estimated study completion date is 2026. Link: https://clinicaltrials.gov/study/NCT06036693
• Registry of Patients Diagnosed With Lysosomal Storage Diseases (LSD Registry) (ClinicalTrials.gov ID: NCT05619900): This ongoing international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) aims to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs. This single-center study is sponsored and carried out by the University of California, San Francisco. Inclusion criteria are age 0-64 years, diagnosis of a lysosomal storage disease, or pregnant patients whose fetus has a diagnosis of a lysosomal storage disease. The estimated study completion date is 2050. Link: https://www.clinicaltrials.gov/study/NCT05619900
• PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders) (PEARL) (ClinicalTrials.gov ID: NCT04532047): This ongoing phase 1 clinical trial aims to determine the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy with lysosomal storage diseases. Inclusion criteria are: live fetuses at 18 0/7 weeks to 34 6/7 weeks gestation, diagnosis of one of the 8 included LSDs (including MPS VII) in utero by genetic or enzymatic analyses performed on amniotic fluid, fetal blood, placenta tissue, or other samples through chorionic villus sampling, amniocentesis, cordocentesis, cell free fetal DNA, or other procedures; pregnant women age 18 years to 50 years; written informed consent. It is a single-center study, sponsored and carried out by the University of California, San Francisco. The estimated study completion date is 2032. Links: https://clinicaltrials.gov/study/NCT04532047; https://pearltrial.ucsf.edu
• MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis (ClinicalTrials.gov ID: NCT02171104): This single center ongoing phase II study aims to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality using busulfan- and flugarabine-based conditioning regimens with busulfan therapeutic drug monitoring for patients with various inherited metabolic disorders (including MPS VII) and severe osteopetrosis. Inclusion criteria are age 0 through 55 years, adequate graft available and adequate organ function. The study is sponsored by the Masonic Cancer Center, University of Minnesota and it is located in Minneapolis, USA. The estimated study completion date is 2028. Link: https://clinicaltrials.gov/study/NCT02171104
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