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.

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. 

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 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.

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.

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 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).