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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)

• Impact of regular physiotherapy intervention on the function and quality of life of pediatric patients diagnosed with Mucopolysaccharidosis. (2026/03/17) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ultrasound-guided one-point puncture lumbosacral plexus block combined with laryngeal mask airway general anesthesia for thigh amputation in a patient with mucopolysaccharidosis: a case report. (2026/03/12) ♡
• Comparative evaluation of liver-directed knockin strategies with viral and nonviral vectors in mouse inherited disease models. (2026/03/04) ♡
• Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis. (2026/03/03) ♡
• 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. Sleep disorder assessment in children and adolescents with neurodevelopmental disorders. (2026/03/01) ♡
• Cervicothoracic Kyphosis and Spinal Cord Compression in Hurler Syndrome. (2026/03/01) ♡
• Synthesis of and characterization of differentially sulfated disaccharide repeating units of keratan sulfate. (2026/03/01) ♡
• Phenotypes of Elosulfase Alfa-Induced Immediate Hypersensitivity Reactions and Long-Term Outcomes of Desensitization in Mucopolysaccharidosis IVA. (2026/02/28) ♡
• 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. Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis. (2026/02/26) ♡
• Liposomal CRISPR/Cas9-Mediated Local Genome Editing for Joint Disease in Mucopolysaccharidosis Type I. (2026/02/24) ♡
• CSF GAG non-reducing ends in MPS IH after peripheral and brain-penetrating therapies: A model comparing IV non-targeted ERT and HCT. (2026/02/13) ♡
• 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. Pathologies of the cervical spine in skeletal syndromes and dysplasias. (2026/02/01) ♡
• Unveiling the hidden burden: challenges and spectrum of inborn errors of metabolism in LMICs. (2026/02/01) ♡
• 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. Vascular complications and imaging-based cardiovascular risk assessment in Mucopolysaccharidoses: A systematic review. (2026/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Screening saves hands: Detecting silent carpal tunnel syndrome in mucopolysaccharidosis. (2026/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease. (2026/01/20) ♡
• 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. Non-neurological, non-skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy (OTL-203) for Hurler syndrome. (2026/01/07) ♡
• Retinal microstructural and microvascular changes in mucopolysaccharidoses. (2026/01/01) ♡
• Commentary: Lysosomal enzymes engineered to cross the blood-brain barrier are reshaping the therapeutic landscape of neuronopathic mucopolysaccharidoses. (2026/01/01) ♡
• Effect of Early Hematopoietic Stem Cell Transplantation on Carpal Tunnel Syndrome Surgery in Patients With Hurler Syndrome. (2026/01/01) ♡
• Pharmacological synergistic multi-target of Curcuma longa compounds to minimise the ototoxic effects and resistance of cisplatin in ovarian cancer treatment: integration of bibliometric analysis, pharmacological networking, and molecular docking approaches. (2026/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type IIIB. (2026/01/01) ♡
• Health-related Quality of Life among Children Living with Rare Diseases in China: a Nationwide Study. (2026/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessment of the Impact of Intestinal Gas Emission Quality on the Postoperative Course After Abdominal Surgery (2026-08-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Expanded Access to Mepsevii (2026-07-30) ♡
• 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. Intracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B) (2026-07-30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Early Access Treatment With Tralesinidase Alfa in Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B) (2026-07-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program (2026-07-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Skeletal Disorders (2026-07-20) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural History to Assess Disease in Patients With MPS IIIC (2026-07-17) ♡
• 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. Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH (2026-07-17) ♡
• 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. ISP-001: Sleeping Beauty Transposon-Engineered B Cells for MPS I (2026-07-17) ♡
• 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. Follow-up Study of AAV-Mediated Gene Transfer (UX111; Previously Known as ABO-102) for MPS Type IIIA (2026-07-17) ♡
• 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. An Interventional Study of Infigratinib in Children With Hypochondroplasia (2026-07-16) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prospective Clinical Assessment Study in Children With Hypochondroplasia (2026-07-16) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Genetic Analysis of the Chiari I Malformation (2026-07-16) ♡
• 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. Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant (2026-07-16) ♡
• 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. Interventional Study of Infigratinib in Children < 3 Years Old With Achondroplasia (ACH) (2026-07-13) ♡
• 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. Study of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A) (2026-07-13) ♡
• 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. A Phase I/II Trial of JR-446 in Mucopolysaccharidosis Type IIIB (MPS IIIB) (2026-07-07) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Early Check: Expanded Screening in Newborns (2026-07-01) ♡
• 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. Study of Cannabidiol in Sanfilippo Syndrome (2026-06-25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis (2026-06-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing (2026-06-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Mucopolysaccharidosis VII Disease Monitoring Program (2026-06-11) ♡
• 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. An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007 (2026-06-11) ♡
• 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. A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT) (2026-06-04) ♡
• 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. RGX-121-3102 Gene Therapy in Participants With MPS II (Hunter Syndrome) (2026-06-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Radicle GI Health RDH™: A Study Assessing the Impact of Health and Wellness Products on Gastrointestinal (GI) Health and Related Health Outcomes (2026-05-28) ♡
• 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. Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia (2026-05-26) ♡

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