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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. A Study Evaluating the Impact of Regular FODMAP-targeting Digestive Enzyme Blend Use on Gastrointestinal Symptoms in Individuals With Self-Reported Bloating (2026-05-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Non-invasive Functional Assessment and Pathogenesis of Morquio A (2026-05-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural History Study of Participants With Sanfilippo Syndrome Type IIIC (2026-05-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients (2026-05-06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long Term Follow-Up for RGX-111 (2026-04-29) ♡
• 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. Effects of Bisphosphonates on OI-Related Hearing Loss (2026-04-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome (2026-04-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study to Investigate the Efficacy of a Digestive Health Dietary Supplement on Post-meal Bloating in Healthy Participants (2026-04-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Registry of Patients Diagnosed With Lysosomal Storage Diseases (2026-04-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prospective Clinical Assessment Study in Children With Achondroplasia (ACH) (2026-04-03) ♡
• 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. Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age (2026-04-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Impact of B. Adolescentis iVS-1 Probiotic on Gastrointestinal Outcomes (2026-04-01) ♡
• 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. Gene Therapy With Modified Autologous Hematopoietic Stem Cells for Patients With Mucopolysaccharidosis Type II (2026-03-27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders) (2026-03-17) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Evaluate the Efficacy and Safety of Infigratinib in Children and Adolescents With Achondroplasia (2026-03-17) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. RGX-111 Gene Therapy in Patients With MPS I (2026-03-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy of Voxzogo for Growth Deficits in MPS IVA and VI (2026-03-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Physical Activity Intervention for MPS (2026-03-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Mucopolysaccharidosis I (MPS I) Registry (2026-02-27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. MPS (RaDiCo Cohort) (RaDiCo-MPS) (2026-02-11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Longitudinal Study of Neurodegenerative Disorders (2026-02-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI (2026-02-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Evaluate the Effects of a Butyrate-Polyphenol Formulation on Gut Health and Associated Symptoms (2026-01-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cardiac Structure and Function in MPS (2026-01-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in MPS II (Hunter Syndrome) Subjects (2026-01-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Extension Study to Assess the Long-term Safety and Efficacy of Hunterase (Idursulfase Beta) (2026-01-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC (2026-01-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effectiveness of a Butyrate Formulation and Butyrate + Polyphenol Formulation on Gut Health, Permeability and Associated Symptoms (2026-01-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis (2026-01-07) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cardiovascular Structure and Function in the Mucopolysaccharidoses (2026-01-07) ♡
• Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA. (2025/12/27) ♡
• Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network. (2025/12/26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population. (2025/12/24) ♡
• 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. Engineering Liver-Specific Promoters: A Comprehensive Review of Design, Mechanisms, and Clinical Applications in Gene Therapy. (2025/12/22) ♡
• Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases. (2025/12/22) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Comprehensive genetic screening of in vitro fertilized embryos using preimplantation genetic testing for monogenic gene disorders via the Sanger sequencing technique. (2025/12/18) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Progressive Hand Stiffness and Numbness in a Child: An Atypical Neurological Presentation of Scheie Syndrome-A Case Report. (2025/12/17) ♡
• Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry. (2025/12/09) ♡
• Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I. (2025/12/06) ♡
• Adeno-associated vector corneal gene therapy reverses corneal clouding in a feline model of mucopolysaccharidosis VI. (2025/12/05) ♡
• 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. Mucopolysaccharidosis Type I. (2025/12/04) ♡
• Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey. (2025/12/02) ♡
• Urine proteome uncovers common mechanisms between mucopolysaccharidosis types I and II. (2025/12/01) ♡
• 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. The Neuroimmune Landscape of the Lysosomal Storage Disorder Sanfilippo Syndrome. (2025/12/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey. (2025/12/01) ♡
• Evaluation and follow-up of newborns screening positive for mucopolysaccharidosis II: Results from an international modified Delphi consensus. (2025/12/01) ♡
• MUSCULOSKELETAL ALTERATIONS OF ORTHOPEDIC INTEREST IN MUCOPOLYSACCHARIDOSES. (2025/12/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case. (2025/11/30) ♡
• The use of genistein and ambroxol may be an effective approach in correcting cellular dysfunctions of mucopolysaccharidosis-plus syndrome. (2025/11/27) ♡
• Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants. (2025/11/27) ♡

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