Oxidative Stress in Niemann-Pick Disease Type C

Molecular Genetics and Metabolism recently published a new article titled, "Oxidative stress in Niemann-Pick disease, type C," from authors Fu R, Yanjanin NM, Bianconi S, Pavan WJ, Porter FD.

The article is summarized as follows:

Oxidative stress is caused by an imbalance between the production of reactive oxygen and a biological system's ability to detoxify the reactive intermediates or easily repair the resulting damage. Increased oxidative stress has been reported in human NPC1 mutant fibroblasts and in tissues from Npc1 mutant mice. However, oxidative stress in NPC patients has not been established. This study demonstrated increased oxidative stress in NPC patients.

Blood samples from 37 children and adults with NPC were tested. Compared to control values, the NPC samples showed significant decreases in both the fraction of reduced coenzyme Q10 (CoQ10) and Trolox equivalent antioxidant capacity (TEAC). Reduced CoQ10 functions as an antioxidant protecting cells from oxidative damage. Trolox is used as a reference substance to measure the combined antioxidant capacity in biological specimens. Both findings are consistent with increased oxidative stress in NPC. However, supplementation with CoQ10 was not effective in correcting the decreased fraction of reduced CoQ10. Demonstration of increased oxidative stress in NPC patients provides both a rationale and the biomarkers necessary to test the efficacy of antioxidant therapy in NPC.

Visit the NNPDF's Latest Research page for a link to the complete article or for more information about Niemann-Pick Disease.

Future Blood Test for Niemann-Pick C

Diagnosis of NPC May Soon be Done Via Blood Test

Niemann-Pick Disease Type C (NPC) may soon be diagnosed with a simple blood test, according to a report from the Washington University School of Medicine, St. Louis, Missouri, published recently in Science Translational Medicine.

Dr. Dan Ory of Washington University, and the chair of the NNPDF's Scientific Advisory Board (SAB), is one of the report's authors, along with Dr. Forbes "Denny" Porter, of the National Institutes of Health (NIH), also on the NNPDF's SAB; and Nicole Yanjanin, R.N., NIH, and on the NNPDF's Board of Directors; and others.

Visit Newswise for the complete story and video clip, which features Dr. Ory along with Nancy and Art Sullivan, parents of Karen Sullivan, who passed away from NPC in 2004, at the age of 33.

For more information about Niemann-Pick Disease and recent research news, visit the National Niemann-Pick Disease Foundation at www.nnpdf.org.

Online Auction for Niemann-Pick Disease

The NNPDF’s Online Auction has something for everyone!
Get a jump on holiday gift shopping, while benefiting research and support services for families battling Niemann-Pick Disease.

The auction offers a full array of exciting items, with all proceeds to advance our Quest for a Cure! Pictured is just a small sampling of the items you’ll find there.

The NNPDF Online Auction is accepting bids up until midnight October 31st. Many new items have been added recently, with items ranging in value from $10 to fabulous trips worth several thousand dollars -- something for every budget and some real “steals” to be snapped up -- gourmet foods, sporting event tickets, “Persevere” clothing, autographed memorabilia, handmade crafts, jewelry, travel, artwork, etc.

Your participation is key to our success. Please help us raise funds to advance research for a cure and to provide important support services for our families!

Please don’t hesitate to contact us if you have any questions or need further information about the October Awareness Online Auction or about Niemann-Pick Disease. Visit the NNPDF at www.nnpdf.org

Institute of Medicine Releases Report on Rare Diseases

The Institute of Medicine (IOM) recently released a report calling for implementing an integrated national strategy to promote rare diseases research and product development.

The report, Rare Diseases and Orphan Products: Accelerating Research and Development, is the result of a two-year study commissioned by the National Institutes of Health (NIH) and the Food and Drug Administration (FDA).

To read the full report, visit the NNPDF's Latest Research page and click the link.

One Child's Journey through Niemann-Pick Disease

One Child’s Story Through Niemann-Pick Disease Type C

Stacey Lynne Vorpahl (NPC)
January 3, 1985 – October 9, 2004

In loving memory of Stacey and all the other precious children lost to NPD, and in honor of those still struggling, please join with us in our Quest for a Cure. Follow the link to view Stacey's story, as told by her parents in text and photos.

10 – 10 – 10 Challenge
Please Help Raise Awareness for Niemann-Pick Disease

Meet the NNPDF's 10-10-10 Challenge and take at least one simple action on October 10,2010, to spread the word about this devastating disease.

Thank you for your help and support, on 10-10-10 and always!

2011 Puppies Calendar Now Available!

Get ready for 2011 with the latest edition of the darling Puppies Calendar, "Treasuring Each Day!"

Featuring playful puppies and sayings of inspiration and hope, this very special wall calendar is dedicated to the children and families who struggle every day with the challenges of Niemann-Pick Disease (NPD).

Get a jump on your holiday shopping by ordering ten calendars on 10-10-10, supporting the NNPDF's program of research and important Family Support Services at the same time!

Your purchase of these calendars gives hope to families affected by NPD as funds are raised for essential research into treatments and a cure. Turning the page each month, we are reminded that we are in a race against time to find treatments and a cure for all children and adults with NPD.

NNPDF member Lorna Tyrrell created the Puppies Calendars in honor of their seven-year-old daughter (who loves puppies and bunnies and all things cuddly!), Naomi (NPC). Please order calendars directly from the Tyrrells using the order form available here.

Thank you for your support of all those affected by Niemann-Pick Disease, on 10-10-10 and every day!

Take the 10-10-10 Niemann-Pick Disease Challenge!

Intriguing dates such as 10/10/10 don’t come around all that often, and it seems fitting to proactively observe this once-in-a-lifetime occasion, especially since it falls during October National Niemann-Pick Disease Awareness Month!

Participating in the NNPDF Central Office Challenge and showing support for the many families coping with Niemann-Pick Disease is one simple way you can mark the day by making a positive difference. With just a few minutes of your time, you can help raise awareness and funding for all whose lives are affected and cut short by Niemann-Pick Disease.

Our 10-10-10 Challenge is to get 300 people to share information about Niemann-Pick Disease with 10 other people, via email, Facebook, Twitter, or other means (even via the hospitable old-fashioned way, face-to-face!).

Spreading the word about this rare disease is key to raising the essential funding for research which will find the treatments and cure we all work fervently toward, and to providing important family services for those who rely on us. Please, will you help us meet our goal? Click here for six easy ways you can help us meet this October Awareness Month challenge!

One decidedly FUN way to participate in October Niemann-Pick Disease Awareness Month is to shop the Online Auction! Bidding is now open! Bid high, bid often!

It's also not too late to donate items to the auction. Check out this page for more details, or contact the NNPDF Central Office.

As always, Thank You most sincerely for the continued love and support you give the families who deal with the challenges and heartbreak of Niemann-Pick Disease!