About 2,030 results

ALLMedicine™ Mucopolysaccharidosis Center

Research & Reviews  751 results

Efficient CRISPR/Cas9 nickase-mediated genome editing in an in vitro model of mucopolys...
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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...

Effect of anti-iduronidase sulfatase in patients with Mucopolysaccharidosis type II tre...
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...

Mucopolysaccharidoses Types I-VII 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...

Sanfilippo Syndrome Type A: Early Cardiac Involvement of Two patients with Cardiac Mani...
Cardiovascular Pathology : the Official Journal of the So... Ballantyne M, Chiu B et. al.

May 11th, 2022 - To report two unusual presentations of mucopolysaccharidosis type III (Sanfilippo syndrome) and provide evidence for the cardiac involvement. We report two siblings with cardiac involvement that were diagnosed in childhood with Sanfilippo A Syndro...

Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Cent...
Orphanet Journal of Rare Diseases; Magner M, Almássy Z et. al.

May 11th, 2022 - Mucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. A progressive systemic skeletal chondrodysplasia, leading to signifi...

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Guidelines  2 results

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis ...
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...

Mucopolysaccharidosis I: management and treatment guidelines.
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...

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Drugs  7 results see all →

Clinicaltrials.gov  32 results

A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II

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.

A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)

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...

A Study of DNL310 in Pediatric Participants With Hunter Syndrome

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 ...

Non-invasive Functional Assessment and Pathogenesis of Morquio A

Mar 17th, 2022 - Mucopolysaccharidosis IVA (MPS IVA, Morquio A Disease) is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfate sulfatase (GALNS). GALNS catalyzes the degradation of the glycosaminoglyc...

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News  20 results

NICE Grants Routine Access to Treatment for a Rare Metabolic Disorder

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...

The Real Reason Some Newborns Don't Get Screening for Deadly Diseases

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...

Gene Therapy Promising for Rare Syndrome

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...

Gene therapy shows promise for 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.

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency Diagnosis and Management

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...

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