ALLMedicine™ Mucopolysaccharidosis Center
Research & Reviews 752 results
https://doi.org/10.1016/j.gim.2022.04.002
Genetics in Medicine : Official Journal of the American C... Muenzer J, Vijayaraghavan S et. al.
May 20th, 2022 - Intrathecal (IT) idursulfase-IT for the treatment of cognitive impairment is being investigated in pediatric patients with neuronopathic mucopolysaccharidosis II (MPS II) in addition to intravenous idursulfase. In this article, we report the findi...
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Gene Therapy; Leal AF, Alméciga-Díaz CJ
May 18th, 2022 - Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD) caused by mutations in gene encoding for GALNS enzyme. Lack of GALNS activity leads to the accumulation of glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfat...
https://clinicaltrials.gov/ct2/show/NCT05371613
May 18th, 2022 - This is a Phase 2/3, multiregional, two-arm, double-blind, randomized, active (standard-of-care)-controlled study of the efficacy and safety of DNL310, an investigational central nervous system (CNS)-penetrant enzyme-replacement therapy (ERT) for ...
https://doi.org/10.1016/j.jpeds.2022.05.008
The Journal of Pediatrics; Vollebregt AAM, Hoogeveen-Westerveld M et. al.
May 15th, 2022 - To assess the relationship between anti-Iduronidase sulfatase (IDS), IDS genotypes, phenotypes and their impact in enzyme replacement therapy (ERT)-treated Mucopolysaccharidosis type II patients. Dutch ERT-treated patients were analyzed in this ob...
https://emedicine.medscape.com/article/1115193-workup
May 13th, 2022 - Laboratory Studies The diagnosis is based on the clinical picture, radiographic findings, and laboratory results. The diagnosis of mucopolysaccharidosis can be achieved by nonenzymatic screening methods, including the 2-dimensional electrophoresis...
Guidelines 2 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170181
Orphanet Journal of Rare Diseases; de Ru MH, Boelens JJ et. al.
Aug 13th, 2011 - Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder that results in the accumulation of glycosaminoglycans causing progressive multi-organ dysfunction. Its clinical spectrum is very broad and varies from the severe Hurler phenotyp...
https://doi.org/10.1542/peds.2008-0416
Pediatrics Muenzer J, Wraith JE et. al.
Jan 2nd, 2009 - Disease management for mucopolysaccharidosis type I has been inconsistent because of disease rarity (approximately 1 case per 100,000 live births), phenotypic heterogeneity, and limited therapeutic options. The availability of hematopoietic stem c...
Drugs 7 results see all →
Clinicaltrials.gov 31 results
https://clinicaltrials.gov/ct2/show/NCT05371613
May 18th, 2022 - This is a Phase 2/3, multiregional, two-arm, double-blind, randomized, active (standard-of-care)-controlled study of the efficacy and safety of DNL310, an investigational central nervous system (CNS)-penetrant enzyme-replacement therapy (ERT) for ...
https://clinicaltrials.gov/ct2/show/NCT04573023
Apr 29th, 2022 - A Global Phase III multicenter, randomized, assessor-blinded, active-controlled designed to evaluate safety and efficacy of study drug for the treatment of the MPS II.
https://clinicaltrials.gov/ct2/show/NCT04348136
Apr 25th, 2022 - Multicenter, open-label, single-group, designed to evaluate the long term efficacy and safety of study drug for the treatment of the MPS II.
https://clinicaltrials.gov/ct2/show/NCT02294877
Apr 1st, 2022 - MARS is a multicenter, multinational, observational disease registry for patients diagnosed with Mucopolysaccharidosis Type IVA (MPS IVA). The Registry will collect medical history, and clinical and safety assessments every six months, for up to 1...
https://clinicaltrials.gov/ct2/show/NCT04251026
Mar 29th, 2022 - This is a multicenter, multiregional, open-label study to assess the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of DNL310, an investigational central nervous system (CNS)-penetrant enzyme replacement therapy (ERT), designed to treat ...
News 22 results
https://www.medscape.com/viewarticle/970676
Mar 22nd, 2022 - In a draft guidance published yesterday, The National Institute for Health and Care Excellence (NICE) has recommended elosulfase alfa (Vimizin; BioMarin) for routine use within the NHS for the treatment of mucopolysaccharidosis type 4A (MPS 4A), a...
https://www.medpagetoday.com/pediatrics/generalpediatrics/96333
Dec 21st, 2021 - Shannon Smith describes her daughter's birth as not all that eventful. She and her husband drove 10 minutes from their home in rural Alabama across the state line to a hospital in Georgia where they had scheduled a C-section for what was anticipat...
https://www.medscape.com/viewarticle/949815
Apr 23rd, 2021 - A gene therapy strategy has produced impressive results in patients with Sanfilippo syndrome type A (mucopolysaccharidosis IIIA). Most of the benefit from the treatment came in patients who began treatment at younger age, but comparisons to natura...
https://www.mdedge.com/neurology/article/238999/rare-diseases/gene-therapy-shows-promise-sanfilippo-syndrome
Jim Kling
Apr 22nd, 2021 - A gene therapy strategy has produced impressive results in patients with Sanfilippo syndrome type A (mucopolysaccharidosis IIIA). Most of the benefit from the treatment came in patients who began treatment at younger age, but comparisons to natura.
https://reference.medscape.com/viewarticle/936001_3
Sep 18th, 2020 - Answer 2/5 Which of the following conditions presents in a similar way to AADC deficiency? Your peers chose: Gaucher disease 0% Mucopolysaccharidosis 0% Alpha-1 antitrypsin deficiency 0% Tetrahydrobiopterin (BH4) deficiency 0% BH4 deficiency prese...
