Research News

Below find recent research news about pseudoxanthoma elasticum [PXE] and other genetic disease research.
For more news about PXE, visit our News page.

December 2, 2016
PXE International Center of Excellence in Research and Clinical Care 

PXE International is excited to announce the opening of the PXE International Center of Excellence in Research and Clinical Care at Jefferson. The Center was launched at the beginning of the 2016 PXE International Biennial Research Symposium: “Progress in Diagnostics, Research and Treatment” on September 15, 2016.

The Center will provide a locus for pseudoxanthoma elasticum (PXE) research and clinical care. PXE International, with Jefferson Medical College, will support the Center and its first lead scientist, Koen van de Wetering, who has been recruited from The Netherlands. Dr. v.d. Wetering has been instrumental in a number of important basic science and preclinical discoveries for PXE. 

December 2, 2016
Summary of 2016 PXE Research Meeting
PXE International gathered over 50 researchers from around the world to discuss the latest and greatest of PXE research. Presentations of new data from labs across the globe shared exciting advancements and new avenues of research. The group left feeling invigorated and energized to continue pushing forward toward a treatment for PXE. We would like to thank our sponsors at the NIH (NCATS, NEI, and NIAMS) as well as Thomas Jefferson University for hosting the event. 

June 13, 2016
2016 Innsbruck Research Meeting
The 6th Special Meeting for ATP-Binding Cassette (ABC) Proteins took place in Innsbruck, Austria from March 5th through March 11th, 2016. PXE International CEO Sharon Terry, staff members Christine Vocke and Jannat Gill, and PXE International Board President Patrick Terry attended the meeting. Over the years, presentations at this meeting have catalyzed amazing advances for PXE International research. Mutations in the gene associated with PXE, ABCC6, cause a malfunction in an ABC protein, ABCC6. Thus, this ABC Protein meeting is the place for us to be!   

Summary of 2014 PXE Research Meeting
This article, published by several PXE researchers and PXE International’s CEO, Sharon Terry, describes two recent research meetings on PXE and other ectopic mineralization disorders. One meeting was held in Bethesda, MD, convened and hosted by PXE international September 22-23, 2014. The other meeting was co-convened in Budapest, Hungary September 7-8, 2015 by PXE International and by the Hungarian Institute of Enzymology. This paper details some of the recent scientific advances in pseudoxanthoma elasticum (PXE) research and other heritable ectopic mineralization disorders.

November 4, 2014
Major Announcement - Important discoveries in pseudoxanthoma elasticum (PXE) research may point to potential therapies
Two new papers by Koen van de Wetering and Piet Borst of the Division of Molecular Oncology at the Netherlands Cancer Institute, funded by the generosity of you the contributors to PXE International, may open a new door to potential treatments for pseudoxanthoma elasticum (PXE).  These papers unlock a key mystery that has baffled scientists since the gene was discovered in 1999.  

November 4, 2014
Preventing mineralization found in pseudoxanthoma elasticum: the role of PPi
In a recent study funded by PXE International, a team of researchers in the Netherlands led by Drs. P. Borst and K. van de Wetering demonstrated that the factor, which normally prevents mineralization found in PXE, is inorganic pyrophosphate (PPi). In addition, they showed that PPi is not directly transported out of cells by ABCC6.  Instead, PPi is provided to the body’s circulation by supplying adenosine triphosphate (ATP), which is rapidly converted into adenosine monophosphate (AMP) and PPiby an enzyme known as ENPP1

November 4, 2014
Preventing mineralization found in pseudoxanthoma elasticum: ATP released by liver cells generates PPi
PPi is a key inhibitor of mineralization found in PXE. ABCC6 in the liver regulates the release of ATP and this in turn becomes the principal source of PPi found in plasma. The information obtained from these experiments suggests that a treatment involving the addition of PPi to the circulation may be effective in treating PXE. However, there is no suitable form of PPi, that can be administered to PXE patients and it also degrades quickly. These are major obstacles for the implementation of PPi as a treatment for PXE. 

March 11, 2014
PXE International to be part of the National Patient-Centered Research Network through Genetic Alliance and PCORI
PXE International and nine other disease advocacy organizations, supporting conditions from rare to common, were competitively selected by Genetic Alliance to participate in the pilot of CENA, a health data network that will be part of the National Patient-Centered Clinical Research Network through Genetic Alliance. 

March 11, 2014
AREDS2 trial: What it means for macular degeneration, and PXE
Recommended by the 2001 Age-Related Eye Disease Study (AREDS), AREDS vitamin supplements are often taken as a preventative treatment for both AMD and retinal symptoms of PXE. New interests and concerns prompted researchers from the National Eye Institute to launch the AREDS2 study in 2006. Their results were published in 2013. 

November 4, 2013
PXE Research Meeting held in Budapest, September 27-28, 2013
Forty researchers gathered in Budapest in September to discuss progress in PXE research. There are many new questions and many persistent questions that remain unanswered. There are also many new ideas ready to be tested.

November 4, 2013
Interview with Yale student, Alex Borsa
Two years ago as a high school student, Alex Borsa worked many hours under Drs. Michael Dean and Karobi Moitra at the Laboratory of Experimental Immunology at the National Cancer Institute (NCI) in Frederick, MD, conducting genetic analysis on PXE through DNA sequencing using Next-Generation technology. Now a student at Yale University, Alex says his experience at NCI researching the genetic basis underlying PXE opened his eyes to a whole new arena of scientific inquiry. Read about Alex’s experience researching PXE at NCI, and his future plans.

November 4, 2013
DNA sequencing: From the past to the next generation
Two decades after the discovery of DNA structure in 1953, scientists began to unravel our genes. In the late 1970s, Frederick Sanger developed the chain-termination sequencing protocol, a time-honored method that is still used today. Now, Next-Generation methods take synthesis-based sequencing to a whole new level! Read about Next-Generation sequencing technology used to study the ABCC6 gene, which causes PXE when mutated.

July 29, 2013
Update on Gene Patenting in the USA
PXE International stewards the ABCC6 gene patent. What will change as a result of the Myriad ruling?
In June 2013, the Supreme Court of the United States (SCOTUS) passed down this ruling in the case of Association for Molecular Pathology et al. v. Myriad Genetics, Inc. et al.: "We hold that a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated, but that cDNA is patent eligible because it is not naturally occurring."

June 28, 2013
Summary of 2012 PXE Research Meeting
On September 24-25, 2012, PXE International hosted the 5th International PXE Research Meeting in Bethesda, MD. From around the world principal researchers in the study of pseudoxanthoma elasticum (PXE) convened to present state-of-the-art, up-to-date information on epidemiology, diagnostics, pathomechanisms and potential treatments in PXE. Results of the meeting were published in the June issue of the Journal of Investigative Dermatology in the article entitled, “Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting.” Read a lay summary of that article here.

April 30, 2013
Use of Warfarin Accelerates Mineralization in PXE Knockout Mice
Warfarin, a commonly prescribed blood thinner, is known to cause calcification of arteries and heart valves in people who take it.  Warfarin has also been shown to cause vascular calcification in experiments on rats.  Researchers hypothesized that individuals with PXE, who experience ectopic (abnormal) mineralization, might be at risk of increased mineralization while taking warfarin. 

February 19, 2013
Stem Cell Therapy Experiments in the PXE Mouse
Pseudoxanthoma elasticum (PXE) has been confirmed as a metabolic disorder caused by a protein that malfunctions in the liver. Stem cells derived from bone marrow are of particular interest to PXE researchers because previous studies have shown their capacity to develop into liver cells and be successfully used in patients with liver disorders. A study conducted by researchers in Dr. Jouni Uitto’s laboratory at Jefferson Medical College explored the effects of several techniques for introducing stem cells into PXE knockout mice.

January 30, 2013
Do you have a child with PXE? We need you for a research study!
PXE International is now recruiting for a study involving children 18 years and younger who have been diagnosed with PXE. Email if you are interested in participating.

December 19, 2012
PXE International Expands Its Work into China
PXE was widely recognized for a week in November in three Chinese cities, and many excellent collaborations have begun!

November 30, 2012
Restricting Dietary Magnesium Accelerates Mineralization in PXE Mouse
Recent experiments on mice with PXE have shown that when fed a diet very low in magnesium, the mineralization of the soft tissues in their muzzle skin progressed more quickly than in PXE mice fed a normal diet.

November 1, 2012
PXE International launches Ideation Challenge at Innocentive
Evaluating hypotheses and suggesting experiments for a rare disease

PXE International (the Seeker) recently launched an Ideation Challenge seeking evidence favoring one of two prevailing hypotheses for the cause of pseudoxanthoma elasticum (PXE). Is PXE's phenotype caused primarily by an active circulating metabolite, or a tissue-specific dysfunction? Seeker desires some representative evidence, correlative data, or other testable theorem of which the Innocentive worldwide Solver community may already be aware that can effectively advance ABCC6 transmembrane research for PXE.  

October 23, 2012
Avastin and Lucentis are Equivalent in Treating AMD: CATT Two-Year Results
In July 2012, Ophthalmology published the final results from the two-year Comparison of Age-related Macular Degeneration Treatments Trials (CATT) clinical trial comparing Lucentis and Avastin treatments for wet age-related macular degeneration (AMD). 

October 23, 2012
9th Annual North American ABC Meeting, Frederick, MD, September 27-28, 2012
The 9th Annual North American ABC Meeting held last month at the National Cancer Institute in Frederick, MD featured presentations from scientists studying the role of ATP-binding cassette proteins in human disease. 

September 25, 2012
7th European Elastin Meeting, Ghent, Belgium, September 1-4, 2012
Researchers from all over the world met in Ghent, Belgium to discuss the current progress and controversies in the structure and biology of elastin as well as in diseases of elastic fibers, with several of the presentations related to PXE.

August 22, 2012
Announcing a Clinical Trial of Magnesium Supplements in the Treatment of Pseudoxanthoma Elasticum
Dr. Mark Lebwohl of the Mt. Sinai School of Medicine and PXE International are now recruiting those with biopsy-proven PXE who are 18 years or older to participate in a two-year clinical trial of magnesium supplementation as a treatment for PXE.

July 13, 2012
Lay summary: Acquired pseudoxanthoma elasticum after liver transplant
Recently researchers examined three cases involving young women who acquired PXE after liver transplants, even though they previously had no detectable signs or symptoms of the disease.

June 18, 2012
Interview with Koen van de Wetering, PhD, DVM, Search for the ABCC6 Substrate
The clinical symptoms of PXE are caused by the absence of the ABCC6 substrate in the blood. Although there is a long way to go, identification of this substrate might also allow a specific treatment for PXE.

November 18, 2011
3rd Annual Budapest PXE Research Meeting, October 17-18, 2011
This two-day meeting was both a gathering of long-time players in the PXE research arena and a welcoming of some new scientists. The work presented by the scientists was excellent and showed terrific progress from a year ago.

November 18, 2011
8th Annual North American ABC Workshop
We are at a tipping point for many of the diseases in the ABC family, and scientists working on the ABCC transporters will have some incredible insights into pseudoxanthoma elasticum in the coming years.

November 18, 2011
Interview with Karobi Moitra, Ms, PhD, Analyzing the genomes of PXEers
Dr. Moitra works with Mike Dean at the National Cancer Institute analyzing the genomes of patients who suffer from pseudoxanthoma elasticum.

November 18, 2011
Monthly Lucentis - Safe and Effective for PXE?
Report on a 12-month, open-label, uncontrolled, non-randomized study on the use of Lucentis in patients with pseudoxanthoma elasticum and active CNV.

October 28, 2011
Rescue of ABCC6 Disease-Causing Mutations in Mouse Liver
In a very complex experiment, a team of PXE researchers led by Dr. Váradi and Dr. Le Saux were able to rescue some function in an ABCC6 gene with disease-causing mutations in a live mouse liver. This news is very exciting and may have some application to a future therapy for pseudoxanthoma elasticum in humans.

October 12, 2011
Lay Summary: The Effects of Pseudoxanthoma Elasticum (PXE) on the Placenta and Pregnancy
Early literature on pregnancy in women with pseudoxanthoma elasticum [PXE] contained reports of severe complications. However, more recent studies do not support that recommendation and to date, there is no strong evidence linking PXE to complications during pregnancy for the mother or the fetus.

August 3, 2011
Lay Summary of the 2010 PXE International Research Meeting
Summary of the November 2010 Research Meeting, in lay terms.

August 1, 2011
Interview with Olivier Vanakker, Belgian PXE Researcher
Olivier Vanakker MD, PhD is a pediatrician and clinical geneticist affiliated with the Connective Tissue Disorders team and the Dysmophology team of the Center for Medical Genetics of the Ghent University Hospital, Belgium.

June 17, 2011
Pseudoxanthoma Elasticum: Progress in Diagnostics and Research Towards Treatment Summary of the 2010 PXE International Research Meeting
A cadre of prominent PXE researchers from around the world convened in Bethesda, MD, on November 29 and 30, 2010 to participate in a research meeting organized by PXE International. The presentations and ensuing discussions, providing state of-the-art, up-to-date information on clinical diagnosis, management, and research on pseudoxanthoma elasticum, with translational implications, are summarized here.

May 31, 2011
Lucentis and Avastin Equally Effective for AMD
On April 28, 2011, the New England Journal of Medicine published online the highly anticipated one-year results from a two-year clinical trial showing that Lucentis® and Avastin® were equally effective in preserving vision in people with wet age-related macular degeneration (AMD). The study also revealed that safety of the two treatments was similar, and that "as needed" dosing is a viable treatment option for either drug.

April 28, 2011
Vitamin K Does Not Prevent Mineralization in the PXE Mouse
PXE researchers have been trying to identify the substance, called a substrate, that is not present in the circulation, which could prevent mineralization in pseudoxanthoma elasticum. Results of recent research suggest that administration of vitamin K does not appear to affect mineralization in PXE KO mice.

April 20, 2011
International Rare Disease Research Consortium (IRDiRC) Sets Goals for 2020
From April 6-8, 2011, Investigators from Europe and America met in Bethesda, Maryland for the second meeting of the International Rare Disease Research Consortium (IRDiRC). The purpose of the meeting was to discuss the causes of over 7,000 rare disorders and lay out future collaborations that could produce treatments for about 200 of those disorders by 2020.

April 1, 2011
PXE Research Races Ahead, Be a Part of It!
Research into pseudoxanthoma elasticum makes exciting strides every year: gaining new insights into the cause, development, and progression of this disease. These exciting studies cannot progress without the help of PXEers, whose valuable contributions have driven scientific progress so far and continue to enable many groundbreaking studies.

April 1, 2011
Interview with András Váradi, Hungarian PXE Researcher
András Váradi, PhD is one of PXE International’s great supporters and a leading researcher in this field. He has attended PXE International Research Meetings as well as Patient Meetings. PXE International recently awarded his team a $50,000 grant so that they can continue their important research into pseudoxanthoma elasticum.

March 18, 2011
New genetic vascular calcification disease may have some similarity to pseudoxanthoma elasticum (PXE)
NIH has identified a new rare disease that causes arterial calcification, called ACDC.  According to a paper published in February 2011, the arterial mineralization caused by ACDC may be similar to pseudoxanthoma elasticum.

February 17, 2011
Ethnicity-based Mutation Detection Strategy
This study attempts to correlate recurring mutations with ethnic origin.

February 9, 2011
Power to the People: Participant Ownership of Clinical Trial Data
The time is ripe for individuals to become active participants in clinical trials, to create a movement to build the commons with such data, and to actively share them.

February 1, 2011
Genetic Alliance Registry and BioBank: a novel disease advocacy-driven research solution
Based on the PXE International Registry and BioBank model, six disease advocacy organizations established in 2003 the Genetic Alliance Registry and BioBanks (GARB), a cross-disease, infinitely expandable registry and biorepository.

January 13, 2011
Interesting Gains in Treatment for Macular Degeneration
Three very interesting steps forward have presented themselves recently in the treatment of macular degeneration.

December 19, 2010
Parabiotic Mouse Pairing Experiments: More Evidence that PXE is a Metabolic Disease
What is the metabolic hypothesis? How does parabiotic mouse pairing provide evidence that pseudoxanthoma elasticum is a metabolic disease?

October 7, 2010
The ABCC6 (MRP6) Gene and Gene Patenting
PXE International, a non-profit research foundation, is the owner of the intellectual property rights in the form of multiple worldwide patents issued for the diagnostic and therapeutic use of the gene associated with PXE, ABCC6. What does being the patent holder mean?

October 1, 2010
PXE International BioBank and Clinical Data Registry
What disease has the world's largest rare disease biobank and repository? Pseudoxanthoma elasticum (PXE)!  How can you be involved?  What has it done for you lately?

May 12, 2010
The PXE Mouse Model and Magnesium
Research on pseudoxanthoma elasticum using knockout (KO) mice models has continued, and there are three interesting studies to report.

May 12, 2010
Retinal Treatments
There is a great deal more hope for individuals affected by pseudoxanthoma elasticum (PXE) when they experience choroidal neovascularization (CNV) than there has been in prior decades.  

May 11, 2010
UK's NHS Looking into Avastin® As Treatment for Wet AMD
There are reports that the UK´s National Health Service (NHS) “is looking into if it should break with convention and recommend the use of an unlicensed treatment for patients at risk of blindness.”

May 11, 2010
PXE International BioBank Is World's Largest Repository of Pseudoxanthoma Elasticum Biological and Clinical Information
The PXE International BioBank, established in 1995, was the first lay-managed and -organized BioBank in the world, and continues to lead the way in novel infrastructure and aggressive dissemination.

May 10, 2010
NIH Launches Therapeutics for Rare and Neglected Diseases (TRND) Program
In 2009 the National Institutes of Health (NIH) dedicated $24 million to launch the first integrated, drug development pipeline to produce new treatments for rare and neglected diseases.

March 8, 2010
Circulating Fetuin-A Counteracts Tissue Mineralization in PXE Mouse
Dr. Uitto's group reports in a January 2010 article that Fetuin-A circulating in the blood of the PXE mouse reduces the amount of tissue mineralization taking place.

November 3, 2009
Do Other Genes Influence the Severity of PXE?
While we know that pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene, there is a lot of variability in the severity of symptoms, even between family members with the same mutations in the ABCC6 gene. Because of this variation, researchers believe that there might be other genes, called modifier genes, which are working in combination with the ABCC6 gene to cause the manifestations seen in PXE.

August 6, 2009
Update on Treatments for Retinal Bleeding Caused by Pseudoxanthoma Elasticum
The retinal bleeding caused by pseudoxanthoma elasticum (PXE) is the result of choroidal neovascularization (CNV) which can leak blood and cause scarring in the eye, leading to vision loss.  Two anti-VEGF drugs, Lucentis and Avastin, have shown the most improvement in the majority of individuals treated for CNV.

February 6, 2009
Dietary Magnesium Prevented Tissue Mineralization in the PXE Mouse
Read about the effects of altered magnesium or phosphate diets on the tissue mineralization in the PXE mouse.

December 22, 2008
A Possible Drug Alternative to Avastin® and Lucentis®
Recently a Japanese company named OPKO created a new drug, called Bevasiranib, which, like Avastin® and Lucentis®, works to prevent VEGF proteins from causing leaky blood vessels to grow. How is it different from Avastin and Lucentis?

October 11, 2008
5th Annual North American ABC Meeting
A key session at the ABC meeting, titled "Pseudoxanthoma elasticum, ABCC6, and Vitamin K?", generated vigorous discussion, and PXE International is pursuing new leads. 

September 15, 2008
Clear Evidence: PXE Is a Metabolic Disease
Here is scientific evidence supporting the theory that pseudoxanthoma elasticum (PXE) is a metabolic disease, based on results from a recent study in the PXE mouse.

September 15, 2008
Clinical Trials Comparing Avastin® and Lucentis®
The trial is studying how safe and effective Avastin® is compared to Lucentis® for people who have retinal bleeding due to Age-Related Macular Degeneration (AMD).  It is also studying two different dosing schedules for Avastin and Lucentis.

July 9, 2008
Human Gene Therapy for Treating Blinding Eye Disease
Read about recent developments in human gene therapy for treating Leber´s Congenital Amaurosis (LCA), a blinding eye disease.

June 9, 2008
Vitamin K Precursor Might Be Involved in Pseudoxanthoma Elasticum
Does the absence of ABCC6 in PXEers prevent the liver from providing sufficient vitamin K to the periphery?

November 1, 2007
PXE International Develops Genetic Test for PXE
After almost eight years of work, PXE International brings you the genetic test for PXE!  Partnering with GeneDx, a laboratory in Gaithersburg, MD, we are delighted that we are able to finally offer this test. 

September 15, 2007
Study on the Relationship between Genetic Mutations and Physical Symptoms of Pseudoxanthoma Elasticum
The genotype is only part of the story.

September 15, 2007
Finally! Analysis of the use of Avastin for Retinal Bleeding of Pseudoxanthoma Elasticum
Vision loss is one of the most serious and frightening aspects of pseudoxanthoma elasticum (PXE).

June 1, 2006
Treatments for Retinal Bleeding Caused by Pseudoxanthoma Elasticum
Some individuals with pseudoxanthoma elasticum (PXE) have chorodial neovascularization (CNV) and scarring, a similar problem that occurs in age-related macular degeneration. Information about AMD is often useful to people with PXE.

May 15, 2006
Testicle Study Shows Additional Area of Mineralization in Patients with Pseudoxanthoma Elasticum (PXE)
An article recently published in the journal Radiology confirmed the association of pseudoxanthoma elasticum (PXE) and testicular microlithiasis.

August 24, 2004
U.S. Patent Office Issues First Gene Patent to Patient Advocacy Group
PXE International, a patient advocacy group representing over 3,000 patients and their families around the world, today announced that they have been awarded a landmark patent by the United States Patent and Trademark Office.

March 8, 2004
Pregnancy and Obstetrical Outcomes in Pseudoxanthoma Elasticum
What are the effects of pseudoxanthoma elasticum (PXE) on pregnancy and on the fetus, and what are the effects of pregnancy on PXE?

June 15, 2003
Prominent Mental (Chin) Creases: A New Sign of Pseudoxanthoma Elasticum
The presence of exaggerated mental creases is a useful physical marker for pseudoxanthoma elasticum (PXE).

June 15, 2003
Mammographic Findings in Pseudoxanthoma Elasticum
Systematic evaluation of mammography and breast pathology in pseudoxanthoma elasticum (PXE).