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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 (1371)

• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Extension Study of JR-171-101 Study in Patients With Mucopolysaccharidosis Type I (MPS I) (2025-08-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phase 1 Study of GC1130A in Patients With Sanfilippo Syndrome Type A (MPS IIIA) (2025-08-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phase I/II Study of JR-441 in Patients With Mucopolysaccharidosis Type IIIA (2025-08-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Nutritional Assessment in Patient of Mucopolysaccharide " (2025-08-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Open Label Dose Escalation Study to Assess the Safety, Tolerability, and Pharmacologic Properties of High Dose Ambroxol Hydrochloride in Adult (≥ 18 Years of Age) Subjects With MPS III (2025-08-20) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Baby Detect : Genomic Newborn Screening (2025-08-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Tividenofusp Alfa (DNL310) in Pediatric Participants With Hunter Syndrome (2025-08-07) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment (2025-08-06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II) (2025-08-05) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Natural History Study of Sanfilippo Syndrome Type D (2025-08-01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II (2025-07-30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type II (2025-07-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of JR-141 in Patients With Mucopolysaccharidosis II (BR21) (2025-07-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II (2025-07-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Non-Interventional Study of Clinical Characteristics and Mortality of US Patients With Fibrodysplasia Ossificans Progressiva (FOP) (2025-07-03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094 (2025-06-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 (2025-05-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Gene Therapy with Modified Autologous Hematopoietic Stem Cells for Patients with Mucopolysaccharidosis Type IIIA (2025-03-30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of JR-171 in Patients With Mucopolysaccharidosis I (2025-03-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extreme Morphology and Metabolic Health (2025-02-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA; Sanfilippo Syndrome) (2025-01-30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome) (2025-01-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. RGX-121 Gene Therapy in Children 5 Years of Age and Over With MPS II (Hunter Syndrome) (2025-01-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Elaprase in Children and Adults With Hunter Syndrome (Mucopolysaccharidosis II) in India (2025-01-23) ♡
• [MEP-24] Middle Aortic Syndrome in An Adult Presenting with Limb Ischemia. (2024/12/31) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Two-year follow-up after drug desensitization in mucopolysaccharidosis. (2024/12/27) ♡
• Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021. (2024/12/20) ♡
• Health care costs of home care enzyme replacement therapy for patients with lysosomal storage diseases in Germany. (2024/12/16) ♡
• Shared Gene Expression Dysregulation Across Subtypes of Sanfilippo and Morquio Diseases: The Role of PFN1 in Regulating Glycosaminoglycan Levels. (2024/12/16) ♡
• The Role of Gene Expression Dysregulation in the Pathogenesis of Mucopolysaccharidosis: A Comparative Analysis of Shared and Specific Molecular Markers in Neuronopathic and Non-Neuronopathic Types of the Disease. (2024/12/15) ♡
• College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance. (2024/12/14) ♡
• 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. Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants. (2024/12/02) ♡
• Guided growth surgery for angular deformity of the knee: one centres experience. (2024/12/01) ♡
• Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan. (2024/12/01) ♡
• Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice. (2024/12/01) ♡
• Inflammation and lipoperoxidation in mucopolysaccharidoses type II patients at diagnosis and post-hematopoietic stem cell transplantation. (2024/12/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene. (2024/12/01) ♡
• 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. Tracheostomy in children with mucopolysaccharidosis: A systematic review. (2024/12/01) ♡
• Morphological abnormalities in the white blood cells of a baby with type VI mucopolysaccharidosis. (2024/11/30) ♡
• α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms. (2024/11/26) ♡
• Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement. (2024/11/26) ♡
• Incidence and risk factors of graft failure in allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis in a nationwide pediatric cohort. A study on behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy. (2024/11/26) ♡
• Molecular analysis of mucopolysaccharidosis type VI in Iranian patients; the influence of founder effect and consanguinity. (2024/11/25) ♡
• Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis. (2024/11/14) ♡
• Mechanisms driving epigenetic and transcriptional responses of microglia in a neurodegenerative lysosomal storage disorder model. (2024/11/14) ♡
• Comprehensive evaluation of pathogenic protein accumulation in fibroblasts from all subtypes of Sanfilippo disease patients. (2024/11/12) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency. (2024/11/06) ♡
• Anti-amyloid treatment is broadly effective in neuronopathic mucopolysaccharidoses and synergizes with gene therapy in MPS-IIIA. (2024/11/06) ♡
• Engineering memory T cells as a platform for long-term enzyme replacement therapy in lysosomal storage disorders. (2024/11/06) ♡
• Study on the disease burden of patients with mucopolysaccharidosis type II in China. (2024/11/05) ♡

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