Trusted Resources: Education
Scientific literature and patient education texts
110 resources available:
A Multicenter Open-Label Extension Study of Intrathecal Heparan-N-Sulfatase in Patients With Sanfilippo Syndrome Type A
Molecular genetics and metabolism
Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a rare autosomal recessive lysosomal disorder characterized by deficient heparan-N-sulfatase (HNS) activity, and subsequent accumulation of heparan sulfate, especially in the central nervous system. The disease is associated with progressive neurodegeneration in early childhood. For this open-label extension study of a phase 2b clinical trial, we report on safety and cognitive dec...
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BookmarkThe Impact of Excluding Nonrandomized Studies From Systematic Reviews in Rare Diseases: “The Example of Meta-Analyses Evaluating the Efficacy and Safety of Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis”
Frontiers in molecular biosciences Year: 2021
Nonrandomized studies are usually excluded from systematic reviews. This could lead to loss of a considerable amount of information on rare diseases. In this article, we explore the impact of excluding nonrandomized studies on the generalizability of meta-analyses results on mucopolysaccharidosis (MPS) disease. A comprehensive search of systematic reviews on MPS patients up to May 2020 was carried out (CRD42020191217). The primary endpoint was...
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BookmarkPlasma Proteomic Analysis in Morquio A Disease
International journal of molecular sciences Year: 2021
Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal disease caused by mutations in the gene encoding the enzyme-acetylgalactosamine-6-sulfate sulfatase (GALNS), and is characterized by systemic skeletal dysplasia due to excessive storage of keratan sulfate (KS) and chondroitin-6-sulfate in chondrocytes. Although improvements in the activity of daily living and endurance tests have been achieved with enzyme replacement therapy (ERT) with re...
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BookmarkDetailed Pedigree Analyses and Prenatal Diagnosis for a Family With Mucopolysaccharidosis Type II
BMC medical genomics Year: 2021Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS). The clinical manifestations of MPS II include skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration. MPS II has high genetic heterogeneity disorder, and ~ 658 variants of IDS have been reported.
BookmarkInhibition of Iduronic Acid Biosynthesis by Ebselen Reduces Glycosaminoglycan Accumulation in Mucopolysaccharidosis Type I Fibroblasts
Glycobiology Year: 2021
Mucopolysaccharidosis type I (MPS-I) is a rare lysosomal storage disorder caused by deficiency of the enzyme alpha-L-iduronidase, which removes iduronic acid in both chondroitin/dermatan sulfate (CS/DS) and heparan sulfate (HS) and thereby contributes to the catabolism of glycosaminoglycans (GAGs). To ameliorate this genetic defect, the patients are currently treated by enzyme replacement and bone marrow transplantation, which have a number of...
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BookmarkOpen-Label Phase 1/2 Study of Vestronidase Alfa for Mucopolysaccharidosis VII
Molecular genetics and metabolism reports Year: 2021
Vestronidase alfa is an enzyme replacement therapy for mucopolysaccharidosis VII (MPS VII). In this open-label, phase 1/2 study, three subjects with MPS VII received intravenous vestronidase alfa administered every other week (QOW) for 14 weeks (2 mg/kg), followed by 24-week forced-dose titration (1, 4, and 2 mg/kg QOW; 8 weeks each), 36-week continuation (2 mg/kg), and long-term extension (4 mg/kg). Vestronidase alfa was well tolerated...
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25 resources available:
Understanding Mucopolysaccharidosis Type VII (MPS VII) or Sly Syndrome
Ultragenyx Pharmaceutical Inc. Year: N/A
MPS VII, also called Sly syndrome, is a rare, life-threatening lysosomal storage disorder, caused by mutations of the GUSB gene, which results in a deficiency of the β-glucuronidase enzyme. β-glucuronidase plays a key role in the breakdown of glycosaminoglycans (GAGs), previously called mucopolysaccharides. The inability to properly break do...
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Mucopolysaccharidosis VI (MPS VI) is a very rare genetic disorder characterized by a large head, distinctive “coarse” features, and a large tongue. It is also known as Maroteaux-Lamy syndrome, named after two French physicians, Dr. Pierre Maroteaux and his mentor, Dr. Maurice Emil Joseph Lamy, who first described the condition in 1963. Other names for MPS VI include polydystrophic dwarfism and arylsulfatase B deficiency.<...
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Mucopolysaccharidosis IV (MPS IV) is a rare genetic disorder characterized by short stature and severe bone disease. It is also known as Morquio syndrome, named after Dr. Morquio, a pediatrician in Montevideo, Uruguay. In 1929, Dr. Morquio described a family of four children affected by this condition. The same year, Dr. Brailsford from Birmingham, England, also described the same characteristics. Consequently, it is sometime...
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BookmarkAre You Considering Stem Cell Transplantation? Questions to Ask Your Provider
National MPS Society Year: 2020
Stem cell transplantation can be an overwhelming prospect, especially for a family already facing the usually fresh diagnosis of MPS or related disease. Typically, the time line is short, and the amount of information that needs to be assimilated is daunting. A framework of questions for understanding transplant is presented here. The intent is to provide a list of questions you can bring to your health care provider, to help...
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BookmarkA Guide to Understanding MPS I (Hurler, Hurler-Scheie, and Scheie Syndromes)
National MPS Society Year: 2021
What Is MPS I?
Mucopolysaccharidosis I (MPS I) is a rare genetic disorder that affects the entire body. It is also known as Hurler syndrome, named after Dr. Gertrude Hurler, a general practitioner, who in 1919 first described a boy and girl with severe symptoms of the condition. In 1962, Dr. Harold Scheie, an ophthalmologist, described individuals who displayed attenuated (less severe...
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Talking About the Diagnosis
It can be hard to explain the disease to others. You could say that your child has a long-term condition that, depending on the individual’s needs, may require regular healthcare management. You may wish to tell only a few people who need to know, such as family, close friends and key people at school. When talking to your children about Hunter syndrome,...
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10 resources available:
Morquio disease or mucopolysaccharidosis type IVA (Online Mendelian Inheritance in Man No. 253000) is a rare autosomal recessive disease classified in the group of metabolism inborn errors. The glycosaminoglycans accumulate in chondrocytes, which disturbs bone growth and leads to skeletal manifestations, such as skeletal dysplasia and a short stature. In addition, the disproportionate growth of the trachea can lead to airway insufficiency....
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BookmarkGenome Editing in Mucopolysaccharidoses and Mucolipidoses
Progress in Molecular Biology and Translational Science Year: 2021
Mucopolysaccharidoses (MPS) and mucolipidoses (ML) are disorders that alter lysosome function. While MPS are caused by mutation in enzymes that degrade glycosaminoglycans, the ML are disorders characterized by reduced function in the phosphotransferase enzyme. Multiple clinical features are associated with these diseases and the exact mechanisms that could explain such different clinical manifestations in patients are still unknown. Furthermor...
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BookmarkMPSBase: Comprehensive Repository of Differentially Expressed Genes for Mucopolysaccharidoses
Molecular genetics and metabolism Year: 2021
Mucopolysaccharidoses (MPS) are lysosomal storage diseases (LSDs) caused by the deficiency of enzymes essential for the metabolism of extracellular matrix components called glycosaminoglycans (GAGs). To understand the physiopathology and alterations due to the lysosomal accumulation resulting from enzymatic deficiencies and their secondary outcomes can improve the diagnosis and treatment of rare genetic diseases. This work presents a database...
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BookmarkReal-World Data Assessment of Safety of Home-Based and Hospital/Outpatient-Based laronidase Enzyme Replacement Therapy for Mucopolysaccharidosis I
Molecular genetics and metabolism reports Year: 2021
Enzyme replacement therapy (ERT) is available for several lysosomal storage disorders to address the underlying lysosomal enzyme deficiencies that lead to the accumulation of undegraded substrates in multiple organ systems. A typical ERT regimen is a 2–6 h weekly intravenous infusion. ERT administered in a home setting has been reported by patients and caregivers to be both less stressful and more convenient than hospital o...
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BookmarkUltrasound Findings of Finger, Wrist and Knee Joints in Mucopolysaccharidosis Type I
Molecular genetics and metabolism Year: 2021Musculoskeletal findings in MPS can progress after enzyme replacement. Our aim was to examine synovial recesses, tendons, retinacula and pulleys using ultrasonography for structural and inflammatory changes.
BookmarkCorneal Cloudiness: A Presenting Feature of Mucopolysaccharidosis Type I
Indian journal of pediatrics Year: 2021
A 10-y-old ‘short-statured’ male presented to us with decreased vision in both the eyes since birth. Ocular examination revealed cloudy corneas in both the eyes (Fig. 1a, b). Family history was unremarkable. Suspecting it to be mucopolysaccharidosis, the child was referred to a pediatrician. Systemic examination revealed global developmental delay, short stature, abdominal distension, umbilical hernia, and hepatosplenomeg...
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30 resources available:
Demographic, Clinical, and Ancestry Characterization of a Large Cluster of Mucopolysaccharidosis IV A in the Brazilian Northeast Region
American journal of medical genetics. Part A Year: 2021
Mucopolysaccharidosis (MPS) IVA is a rare autosomal recessive disease with a highly variable distribution worldwide. Discrepancies in the incidence of MPS IVA among populations of different ethnicities are mostly attributed to founder effects. Demographic and clinical data from 28 MPS IVA patients, followed at a single center, and ancestry (Y chromosome and mitochondrial markers) of a subsample of 17 patients, most with the p.Ser341Arg (c.1023...
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BookmarkEarly and Late Brain Resonance Findings of Two Siblings With Hunter Syndrome
Revista de Neurologia Year: 2021Mucopolysaccharidosis type II (MPS II) is a lysosomal disease caused by deficiency of the enzyme iduronate-2-sulfatase (IDS), linked to the X chromosome, producing a wide spectrum of clinical manifestations.
BookmarkSurgical Management of an Aortic Root Dilatation in a Patient Suffering From Hunter Syndrome
Interactive Cardiovascular and Thoracic Surgery Year: 2021
Hunter syndrome is a rare disease leading to glycosaminoglycan accumulation in tissues. Multiple organs are involved, but prognosis is mainly conditioned by cardiac and respiratory failures. Cardiac valvular impairment is quite common but aortic root dilatation is rarely described. This article covers a case of surgical root replacement due to aortic valve insufficiency and aortic root dilatation documented with magnetic resonance and computed...
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BookmarkCase Report: Cerebral Revascularization in a Child With Mucopolysaccharidosis Type I
Frontiers in Pediatrics Year: 2021
Mucopolysaccharidosis (MPS) type I is a rare lysosomal storage disorder caused by an accumulation of glycosaminoglycans (GAGs) resulting in multisystem disease. Neurological morbidity includes hydrocephalus, spinal cord compression, and cognitive decline. While many neurological symptoms have been described, stroke is not a widely-recognized manifestation of MPS I. Accordingly, patients with MPS I are not routinely evaluated for stroke, and th...
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Mucopolysaccharidoses type I (MPS I) is an inherited metabolic disease characterized by a malfunction of the α-l-iduronidase (IDUA) enzyme leading to the storage of glycosaminoglycans in the lysosomes. This disease has longtime been studied as a therapeutic target for those studying gene therapy and many studies have been done using various vectors to deliver the IDUA gene for corrective treatment. Many vectors have difficulties with efficacy...
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BookmarkAwake Airway Endoscopy in Mucopolysaccharidosis: A Case Report
Brazilian Journal of Anesthesiology (Elsevier) Year: 2021
Mucopolysaccharidosis (MPS) are a group of rare genetic inherited diseases with a progressive course due to the accumulation of glycosaminoglycans resulting in anatomic abnormalities and organ dysfunction, including the respiratory, cardiovascular, skeletal, and neurological systems that can increase the risk of anesthesia complications. Clinical manifestations are variable, multisystemic, and include severe morphological changes. The anesthet...
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