PXE International

Washington, DC, United States

PXE International

Washington, DC, United States
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Uitto J.,Thomas Jefferson University | Li Q.,Thomas Jefferson University | van de Wetering K.,Thomas Jefferson University | Varadi A.,Hungarian Academy of Sciences | Terry S.F.,PXE International
Journal of Investigative Dermatology | Year: 2017

Pseudoxanthoma elasticum is a prototype of heritable ectopic mineralization disorders, with phenotypic overlap with generalized arterial calcification of infancy and arterial calcification due to CD73 deficiency. Recent observations have suggested that the reduced inorganic pyrophosphate/phosphate ratio is the cause of soft connective tissue mineralization in these disorders. PXE International, a patient advocacy organization, supports research in part by sponsoring biennial research symposia on these disorders; the latest meeting was held in September 2016 at Thomas Jefferson University, Philadelphia. This report summarizes the progress in pseudoxanthoma elasticum and other ectopic mineralization disorders, as presented in the symposium, with focus on translational aspects of precision medicine toward improved diagnostics and treatment development for these currently intractable disorders. © 2017 The Authors

— Tissue banks are biorepositories for the preservation of human and animal tissues used for disease diagnosis, biodiversity studies, and research. These banks help in the storage of various types of tissue samples such as skin, bone, cornea, heart valves, umbilical cord, and human soft tissues. Tissue banks vary significantly in size, with tissue banks in medical institutions storing a moderate number of samples while national tissue banks store a large number of samples. These samples are used to support research, particularly studies in genetic disorders, personalized medicine, and stem cell research for treating genetic conditions and maintaining and updating age demographic databases. Publisher's analysts forecast the global tissue banking market for emerging applications to grow at a CAGR of 5.24% during the period 2016-2020. Covered in this report The report covers the present scenario and the growth prospects of the global tissue banking market for emerging applications for 2016-2020. To calculate the market size, we consider revenue generated from the sales of products used for: Therapeutics, medical research, and cosmetics. The market is divided into the following segments based on geography: -EMEA -Americas -APAC Publisher's report, Global Tissue Banking Market 2016-2020, has been prepared based on an in-depth market analysis with inputs from industry experts. The report covers the market landscape and its growth prospects over the coming years. The report also includes a discussion of the key vendors operating in this market. Key vendors -Beckman Coulter -BioCision -Tecan Group -Thermo Fisher Scientific Other prominent vendors -BioKryo -Brooks Automation -Chernobyl Tissue Bank -Cureline -Eppendorf -IMA Pharma -LifeLink Tissue Bank -Tata Memorial Hospital Tissue Bank -The PXE International Blood and Tissue Bank -Tissue Banks International -TuBaFrost Group -Wisconsin Tissue Bank Get Sample of the Report at: http://www.reportsweb.com/inquiry&RW0001332779/sample . Table of Contents PART 01: Executive summary PART 02: Scope of the report PART 03: Market research methodology PART 04: Introduction PART 05: Market landscape PART 06: Market segmentation by application PART 07: Market segmentation by product PART 08: Market segmentation by tissue PART 09: Market segmentation by end-user PART 10: Geographical segmentation PART 11: Market drivers PART 12: Impact of drivers PART 13: Market challenges PART 14: Impact of drivers and challenges PART 15: Market trends PART 16: Vendor landscape PART 17: Major vendors PART 18: Appendix PART 19: Explore Publisher For more information, please visit http://www.reportsweb.com/Global-Tissue-Banking-Market-2016-2020

Uitto J.,Thomas Jefferson University | Bercovitch L.,Brown University | Terry S.F.,PXE International | Terry P.F.,PXE International
American Journal of Medical Genetics, Part A | Year: 2011

Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement, and cardiovascular problems. The classic forms of PXE are due to loss-of-function mutations in the ABCC6 gene, which encodes ABCC6, a putative transmembrane efflux transporter expressed primarily in the liver. While considerable progress has recently been made in understanding the molecular genetics and pathomechanisms of PXE, no effective or specific treatment is currently available for this disorder. PXE International, the premiere patient advocacy organization, organized a workshop in November 2010 to assess the current state of diagnostics and research to develop an agenda towards treatment of PXE. This overview summarizes the progress in PXE research, with emphasis on molecular therapies for this, currently intractable, disorder. © 2011 Wiley-Liss, Inc.

Li Q.,Thomas Jefferson University | Sundberg J.P.,The Jackson Laboratory | Levine M.A.,Childrens Hospital Of Philadelphia | Terry S.F.,PXE International | Uitto J.,Thomas Jefferson University
Cell Cycle | Year: 2015

Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are heritable ectopic mineralization disorders. Most cases of PXE and many cases of GACI harbor mutations in the ABCC6 gene. There is no effective treatment for these disorders. We explored the potential efficacy of bisphosphonates to prevent ectopic calcification caused by ABCC6 mutations by feeding Abcc6–/– mice with diet containing etidronate disodium (ETD) or alendronate sodium trihydrate (AST) in quantities corresponding to 1x, 5x, or 12x of the doses used to treat osteoporosis in humans. The mice were placed on diet at 4 weeks of age, and the degree of mineralization was assessed at 12 weeks by quantitation of the calcium deposits in the dermal sheath of vibrissae, a progressive biomarker of the mineralization, by computerized morphometry of histopathologic sections and by direct chemical assay of calcium. We found that ETD, but not AST, at the 12x dosage, significantly reduced mineralization, suggesting that selected bisphosphonates may be helpful for prevention of mineral deposits in PXE and GACI caused by mutations in the ABCC6 gene, when combined with careful monitoring of efficacy and potential side-effects. © 2015 Taylor & Francis Group, LLC.

Li Q.,Thomas Jefferson University | Guo H.,Thomas Jefferson University | Chou D.W.,Thomas Jefferson University | Harrington D.J.,HealthCare Partners | And 3 more authors.
American Journal of Pathology | Year: 2013

Pseudoxanthoma elasticum (PXE) is a multisystem ectopic mineralization disorder caused by mutations in the ABCC6 gene. Warfarin, a commonly used anticoagulant, is associated with increased mineralization of the arterial blood vessels and cardiac valves. We hypothesized that warfarin may accelerate ectopic tissue mineralization in PXE, with clinical consequences. To test this hypothesis, we developed a model in which Abcc6-/- mice, which recapitulate features of PXE, were fed a diet supplemented with warfarin and vitamin K1. Warfarin action was confirmed by significantly increased serum levels of oxidized vitamin K. For mice placed on a warfarin-containing diet, quantitative chemical and morphometric analyses revealed massive accumulation of mineral deposits in a number of tissues. Mice fed a warfarin-containing diet were also shown to have abundant uncarboxylated form of matrix Gla protein, which allowed progressive tissue mineralization to ensue. To explore the clinical relevance of these findings, 1747 patients with PXE from the approximately 4000 patients in the PXE International database were surveyed about the use of warfarin. Of the 539 respondents, 2.6% reported past or present use of warfarin. Based on the prevalence of PXE (approximately 1:50,000), thousands of patients with PXE worldwide may be at risk for worsening of PXE as a result of warfarin therapy. Copyright © 2013 American Society for Investigative Pathology.

PubMed | PXE International, Thomas Jefferson University and Hungarian Academy of Sciences
Type: Journal Article | Journal: The Journal of investigative dermatology | Year: 2016

Heritable ectopic mineralization disorders represent a phenotypically diverse group of conditions characterized by deposition of calcium phosphate complexes in soft connective tissues. The prototype of such conditions is pseudoxanthoma elasticum, and related conditions with overlapping clinical features include generalized arterial calcification of infancy and arterial calcification due to CD73 deficiency. Molecular genetic investigations have revealed mutations in the genes physiologically involved in generation of inorganic pyrophosphate and inorganic phosphate, and the findings suggest a unifying pathomechanism relating to reduced inorganic pyrophosphate/inorganic phosphate ratio. This hypothesis is based on the notion that inorganic pyrophosphate serves as a powerful inhibitor of mineralization, whereas inorganic phosphate is a promineralization factor, and an appropriate inorganic pyrophosphate/inorganic phosphate ratio is critical for prevention of ectopic mineralization under homeostatic conditions.

Uitto J.,Jefferson Medical College | Jiang Q.,Jefferson Medical College | Varadi A.,Hungarian Academy of Sciences | Bercovitch L.G.,Brown University | Terry S.F.,PXE International
Expert Opinion on Orphan Drugs | Year: 2014

Introduction: Pseudoxanthoma elasticum (PXE), a multisystem orphan disease, clinically affects the skin, the eyes and the cardiovascular system with considerable morbidity and mortality. The clinical manifestations reflect the underlying pathology consisting of ectopic mineralization of peripheral connective tissues. Areas covered: The diagnostic criteria of PXE include characteristic clinical findings, together with histopathology of accumulation of pleiomorphic elastic structures in the dermis with progressive mineralization, and the presence of mutations in the ABCC6 gene. PXE-like cutaneous changes can also be encountered in other ectopic mineralization disorders, including generalized arterial calcification of infancy (GACI) caused by mutations in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene. In some cases, overlapping clinical features of PXE/GACI, associated with mutations either in ABCC6 or ENPP1, have been noted. PXE demonstrates considerable inter- and intrafamilial heterogeneity, and consequently, accurate diagnosis is required for appropriate classification with prognostic implications. There is no effective and specific treatment for the systemic manifestations of PXE, but effective therapies to counteract the ocular complications are in current clinical use. Expert opinion: A number of observations in the animal model, the Abcc6-/- , mouse, have indicated that the mineral composition of diet, particularly the magnesium content, can influence the severity of the mineralization phenotype. These observations suggest that appropriate dietary interventions, coupled with lifestyle modifications, including smoking cessation, might alleviate the symptoms and improve the quality of life of individuals affected with this, currently intractable, orphan disease. © 2014 Informa UK, Ltd.

Yoo J.Y.,Mount Sinai School of Medicine | Blum R.R.,Mount Sinai School of Medicine | Singer G.K.,Mount Sinai School of Medicine | Stern D.K.,Mount Sinai School of Medicine | And 5 more authors.
Journal of the American Academy of Dermatology | Year: 2011

Background: Pseudoxanthoma elasticum (PXE) is a rare connective tissue disorder involving fragmentation and mineralization of elastic fibers predominantly in the skin, eyes, and cardiovascular system. Objective: The objective of this study was to assess the efficacy of sevelamer hydrochloride on the reversal of elastic fiber calcification and clinical lesions of PXE. Methods: This was a randomized, double-blind, placebo-controlled, two-part prospective study. In the first year, 40 patients with PXE were randomized to receive either sevelamer hydrochloride (800 mg by mouth three times daily) or placebo in a 1:1 ratio. In the second year, all patients received sevelamer hydrochloride (800 mg by mouth three times daily). Results: In the first year, the placebo and treatment groups' mean calcium scores decreased from 29.52 to 15.97 (41.93% mean improvement) and 27.48 to 16.75 (38.37% mean improvement), respectively. In the second year, the mean calcium scores decreased to 13.36 (53.94%) and 14.03 (51.35%) in these groups. The mean clinical score in the placebo group decreased from 6.25 to 6.05 at year 1 (2% improvement) whereas the mean clinical score in the sevelamer hydrochloride group decreased from 7.10 to 6.55 (7% improvement). In year 2, the scores in the original placebo and sevelamer hydrochloride groups decreased to 5.33 (14% improvement) and 5.72 (19% improvement), respectively. Limitations: Magnesium stearate in our placebo and active drugs may have played a confounding role in this study, contributing to the small differences observed in these two groups. Conclusion: Sevelamer hydrochloride produced a reduction in both calcification levels and clinical scores; however, this difference was not statistically significant compared with placebo. Future clinical studies should examine the inhibitory role and potential therapeutic effect of magnesium in PXE. © 2010 by the American Academy of Dermatology, Inc.

Terry S.F.,Genetic Alliance | Horn E.J.,Genetic Alliance | Scott J.,Genetic Alliance Registry and BioBank | Scott J.,National Coalition for Health Professional Education in Genetics | And 2 more authors.
Personalized Medicine | Year: 2011

The Genetic Alliance Registry and BioBank was founded in 2003 on the principal that a shared infrastructure would facilitate easy flow of resources and accelerate disease-specific research. Based on the Pseudoxanthoma Elasticum International Registry and BioBank, six disease advocacy organizations came together to identify the best solutions for advocacy organizations to promote and collect biological samples with associated clinical information from their members. This required a flexible system that could accommodate an extensive amount of data and samples, support new avenues of research, yet be adaptable to meet the needs of a variety of organizations, and straightforward to implement and use. After extensive landscape analyses, a cross-disease, infinitely expandable registry and biorepository was established. This article reports on this effort and shares the lessons learned. © 2011 Future Medicine Ltd.

Baxter K.,Genetic Alliance | Baxter K.,Booz Allen Hamilton | Horn E.,Genetic Alliance | Gal-Edd N.,Genetic Alliance | And 4 more authors.
Science Translational Medicine | Year: 2013

A new map is presented for creating an open, collaborative, and coordinated system for drug development.

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