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Mucopolysaccharidosis

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest Level of Evidence Only (35)Treatment guideline (2)Meta-analysis (2)Phase 3 study (16)Systematic review (9)Randomized trial (6)Clinical trial (325)Review Article (168)Early-stage study (phase 1 or 2) (13)Case report (189)Laboratory or animal study (49)Commentary or editorial (21) Studies currently recruiting participants only (33)

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Publications and studies (1372)

• Commentary or editorialiAn expert's opinion or commentary, not new research. Tiny sensors, big hope: ML-optimized nanodiagnostics for TBI in Sanfilippo syndrome. (2025/08/28) ♡
• Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts. (2025/08/26) ♡
• Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients. (2025/08/25) ♡
• Safety assessment of laronidase: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS). (2025/08/20) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Efficacy and safety of a biosimilar laronidase versus the reference laronidase in patients with mucopolysaccharidosis type I. (2025/08/19) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review. (2025/08/13) ♡
• Ultrasonographic hip morphology in mucopolysaccharidosis type I Hurler after hematopoietic stem cell gene therapy. (2025/08/11) ♡
• Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants. (2025/08/01) ♡
• Striking a delicate balance: ethical considerations and promising advances in timely diagnosis and patient safety for Hunter syndrome. (2025/08/01) ♡
• Prevalence of lysosomal storage disease (LSD) in Malaysia. (2025/08/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Neonatal gene therapy effectively prevents disease manifestations in a murine model of Mucopolysaccharidosis type I. (2025/07/30) ♡
• Triclabendazole suppresses cellular levels of glycosaminoglycan-A potential therapeutic agent for mucopolysaccharidoses and related diseases. (2025/07/18) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Syndromic retinitis pigmentosa. (2025/07/01) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II. (2025/05/01) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy. (2025/04/11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Retinopathy in Mucopolysaccharidoses. (2025/04/01) ♡
• Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I. (2025/04/01) ♡
• Evaluation of cardiac function in pediatric patients diagnosed with mucopolysaccharidosis (MPS) and use of annular plane systolic excursion (APSE) to evaluate systolic function. (2025/04/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Human induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4-7 del) in human iduronate 2-sulfatase gene. (2025/03/01) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. The use of nanocarriers in treating Batten disease: A systematic review. (2025/02/10) ♡
• Newborn Screening for Hurler Syndrome Facilitates Early Transplant and Good Outcomes. (2025/02/01) ♡
• High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis. (2025/02/01) ♡
• Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project. (2025/02/01) ♡
• A Case of Opsismodysplasia with a Novel INPPL1 Variant. (2025/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pigmented Paravenous Chorioretinal Atrophy and Mucopolysaccharidosis: A Case Report. (2025/01/18) ♡
• Tandem mass spectrometry-based assay for heparan-N-sulphatase in paediatric CSF: A potential pharmacodynamic biomarker for mucopolysaccharidosis type IIIA therapy. (2025/01/15) ♡
• Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices. (2025/01/08) ♡
• Hematopoietic stem cell transplantation in children with mucopolysaccharidosis IVA: single center experience. (2025/01/01) ♡
• Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy. (2025/01/01) ♡
• Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders. (2025/01/01) ♡
• Development of a novel tool for individual treatment trials in mucopolysaccharidosis. (2025/01/01) ♡
• Miller's Syndrome with Bleeding Nasal Polyp. (2025/01/01) ♡
• Case Report: Prenatal Diagnosis of Mucopolysaccharidosis IVA With Slow Growth of Long Bones: Identification of Novel Mutations in the GALNS Gene. (2025/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Choice of treatment strategy for corneal opacities in patients with mucopolysaccharidosis type VI]. (2025/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Small Intestinal Bacterial Overgrowth Obese (2025-12-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Investigate the Efficacy and Safety of OTL-203 in Subjects With MPS-IH Compared With Standard of Care With Allogeneic HSCT (2025-12-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT (2025-12-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of ELAPRASE in Treatment-naïve Participants With Hunter Syndrome (Mucopolysaccharidosis [MPS] II) (2025-12-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy and Safety of mAnnitol in Bowel Preparation During Elective Colonoscopy and Comparison With Moviprep® (2025-12-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Data Collection of Patients With Rare Bone Diseases (2025-11-20) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies (2025-11-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extension Study of Idursulfase-IT Along With Elaprase in Children and Adults With Hunter Syndrome and Cognitive Impairment (2025-11-06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extension Study of Infigratinib in Children With Achondroplasia (ACH) (2025-10-31) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH. (2025-10-30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Myelin Disorders Biorepository Project (2025-10-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Infigratinib in Children With Achondroplasia (2025-10-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural History of Atypical Morquio A Disease (2025-10-03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. China Post-marketing Surveillance (PMS) Study of Aldurazyme® (2025-09-17) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital (2025-09-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells (2025-09-08) ♡

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