PLN GENETIC HEART DISEASE FOUNDATION

Stichting Hartspierziekte PLN

The PLN disease is a currently incurable heart muscle disease caused by a genetic mutation in the DNA and can be traced back to about the year 1382 and a person of the Frisian Nobility. Of the about 1,000 patients identified so far most of them live in The Netherlands but more and more patients are identified in traditional emigration countries like the USA and Canada. Since this disease was only discovered in 2010 thousands more patients have not been identified.

PLN cardiomyopathy is a genetic disease causing heart disease (cardiomyopathy) whereby the heart muscle may widen and is unable to pump properly which most often leads to severe heart failure and also sudden premature death. The PLN mutation is an inherited genetic disease and is therefore passed on with a 50% chance to the carrier’s children.

Current therapies, such as lifestyle changes, modern drugs and implanted devices (pacemaker, ICD or “Implantable Cardioverter Defibrillator”) only alleviate symptoms and prevent the disease from becoming worse. Heart transplant, while not considered a cure, is a life-saving treatment for end-stage heart failure.

The PLN Foundation was founded in 2012 by patients and family members affected by the negative consequences of this PLN gene mutation. The goal is to find a treatment for this life-threatening disease.

 Trans–Atlantic Research Project

Even though this PLN mutation is considered a Dutch disease, due to its origin, a number of research innovations took place in the USA, which can be used to help find a cure for PLN. As a result the PLN Foundation has initiated a unique trans-Atlantic project to have the three university hospitals in The Netherlands (UMCG Groningen, UMC Utrecht and AMC Amsterdam), which treat the majority of patients, join forces with three highly recognized institutions in the USA to jointly find a treatment method. The Academic medical centers in the USA are Mount Sinai Hospital New York, Stanford University, California and the University of Cincinnati College of Medicine.

The project team will be working on three possible solutions:

  1. Gene therapy. By inserting genetic material in human cells, the goal is to replace the defective PLN protein by adding a healthy one.
  2. Drug therapy. Investigating whether existing drugs or specific molecules have a favorable impact on the PLN mutation.
  3. Stem cell therapy. Inserting healthy stem cells in the heart muscle so that new and active heart muscle cells can be formed again.

Talented young medical scientists from The Netherlands will be send to the USA to be actively involved in the research to be conducted there.

Cardiologists and researchers involved in this project expect a huge spin-off for this project. This mostly consists of a deeper understanding of the heart muscle cell operation, and in particular the calcium balance which makes the heart muscle contract and relax. The results could very well be applied for finding treatment methods for heart failure, one of the main causes of death worldwide.

 Informing Patients

 Another main purpose of our Foundation is to inform patients, family members and other interested persons about the latest developments in PLN research. Through the website, newsletters, get together events and the important once a year patient PLN day we provide as much information as possible to all involved. We also create awareness for this disease through newspaper articles, flyers and active publicity in hospitals, doctor’s offices to reach out to all patients who have not been identified yet.

With your help, our Foundation is able to conduct research on a remedy and to make the PLN heart disease widely known to potential patients that carry the disease so that we can save more people’s lives.

 More information can also be found on both our websites:

http://www.hartspierziektepln.nl

http://www.plnheartdiseasefoundation.org

Support the PLN Genetic Heart Disease Foundation

1. Pay by Credit Card

If you are paying by credit card with a Dutch billing address, please leave the “State” field blank and use your Dutch city code in the “Zipcode” field.

2. Pay by Check

If you would like to send a check for the PLN Genetic Heart Disease Foundation, please complete this form and make check payable to “The Netherland-America Foundation”. Please mail your check to:2. Pay by Check

The Netherland-America Foundation
505 8th Avenue, Ste 12A-05
New York, NY 10018

3. Donate shares of stock

Contact the NAF at 212-825-1221 or info@thenaf.org.

FOR U.S. TAXES The Netherland-America Foundation, Inc. is a 501(c) 3 not-for-profit organization. All contributions are tax-deductible for the purpose of U. S. federal and state taxes, to the extent permitted by federal and state law. CHARITY NAVIGATOR Charity Navigator, America’s premier charity evaluator, gave the NAF a 4-star rating-their highest-for “its ability to efficiently manage and grow its finances, demonstrating to the public it is worthy of their trust.”

 

 

 

 

 

 

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