FDA Grants Clearance for Experimental Intrathecal Administration of Cyclodextrin

The FDA has granted clearance of an Investigational New Drug (IND) application for administration of Hydroxypropyl Beta Cyclodextrin (cyclodextrin) into the central nervous systems of two patients with Niemann-Pick Disease Type C.

The cyclodextrin will be given intrathecally (into the space under the arachnoid membrane of the brain or spinal cord), first via lumbar injection, and then into the brain’s ventricle system. Children’s Hospital & Research Center of Oakland, California, issued a press release, which can be accessed from the NNPDF's NewsLine page.

The NNPDF would like to note the following regarding cyclodextrin:

1. Cyclodextrin has shown promise as a potential therapeutic in animal trials. However, issues of toxicity have also arisen.
2. The NNPDF is aware that cyclodextrin is being used on a single-patient Investigational New Drug (IND) basis in the U.S. and in Brazil.
3. More research is needed to understand issues related to drug delivery, efficacy and safety.
4. The NNPDF will keep the NPC community apprised of developments regarding cyclodextrin.

Amy Dockser Marcus published this related article in her Wall Street Journal Health Blog on September 23.

For more information about cyclodextrin, cyclodextrin's orphan drug designation, a glossary of terms, and links to the FDA, please visit our cyclodextrin page.

Cassandra Phillipa Stallard

Cassandra Phillipa Stallard (NPC)
May 30, 1989 - September 21, 2010



We are very sad to learn of the death of 21-year-old Cassie Stallard due to the effects of Niemann-Pick Disease Type C (NPC).

According to Cassie's mom, Trish, Cassie died peacefully in her sleep after a day enjoyed strolling on the beach and a trip to a favorite coffee house.

All our sympathy to the Stallards and their extended family and friends in their loss.

To learn more about Niemann-Pick Disease, please visit the National Niemann-Pick Disease Foundation Web site.

Online Auction Site LIVE! Your help is requested!

The NNPDF's Niemann-Pick Disease Awareness Online Auction site is now live and operational!

Please visit the NNPDF October Awareness Month Online Auction site now and see what we are cooking up for October 1st, when opening bids will be accepted.

New auction items are being added daily, and you can begin window shopping today! Some exciting items already posted include an autographed Brett Favre Minnesota Vikings jersey, a handmade quilt, authentic Chinese wall scrolls and masks, a DVD of the Super Bowl Champion New Orleans Saints, and gift cards from R.E.I. and Target.

The list is growing daily as families around the U.S. and Canada are busy making, collecting and donating items for this important event which will raise funds in support of family services programs and essential research into Niemann-Pick Disease.

Please Help!
Your participation is needed to help make this auction the huge success we know it can be!

Please think about what you and your family might donate to the auction. Popular auction items include handmade crafts and gifts, gift cards to nationwide retailers or service providers (restaurants, department stores, home improvement stores, hotels, bookstores, carpet cleaning, etc.), sports memorabilia, collectors’ items, vacation packages, tickets to sporting or theater events, jewelry, artwork, tools, etc.

Items may be donated by an individual/family, or donations may be solicited from your area businesses.

(Please, no glass or fragile items that may be damaged in shipping, no alcohol or firearms, and nothing that cannot be shipped or for which shipping costs would be prohibitive.) (Shipping costs will be the responsibility of the buyer, unless the donor elects to donate shipping costs.)

Auction to Feature State-Themed Baskets
One special feature of the NNPDF auction will be state-themed “baskets,” or “collections,” with items unique to a state or region. Examples might be non-perishable food items representative of a state or region, regional-flavor clothing or jewelry, professional or college sports memorabilia or tickets, souvenir/collectors’ items, etc.

How to Donate
Please let us know ASAP what you plan to donate for the auction, so we can post it to the site. Please complete the form available on the NNPDF Web site and send the form, together with a photo (jpg format if possible), to NNPDF Board Member/Development Committee Co-Chair Ryan Kelly.

Please do NOT send auction items to the NNPDF; items will be shipped directly from the donor to the winning bidder at the close of the auction (October 31st), with the buyer responsible for the cost of shipping. (Donors may choose to cover the cost of shipping, particularly for small or lightweight items which cost little to ship.)

Spread the Word!
Please email the link to the NNPDF October Awareness Online Auction Site to all your friends, family and acquaintances so they can get in on the fun and excitement, as well! This is a fabulous opportunity to raise significant funds for the Quest for a Cure, but we need your help in getting the word out.

Contact Us
Please feel free to contact the NNPDF Central Office with any questions you may have about the Online Auction. We look forward to working together with you on this exciting opportunity! Together, we can make a difference!

October is Niemann-Pick Disease Awareness Month!

October is the time to raise awareness about Niemann-Pick Disease!

We need to get the word out about this rare disease to doctors, families, government leaders and the general public.

We invite and encourage each family to look within their family structure, friends and community support networks to create their own team and sponsor an awareness campaign and/or fundraising event during October 2010.

The NNPDF has a wealth of experience and resources to support you in any fundraising/awareness project you'd like to undertake, from a simple "Persevere" wristband sale or a "Family and Friends" letter, up to an all-out gala or golf tournament. Take a look at what other NNPDF families are cooking up for October.

One easy and effective way to support the foundation's goals of research into treatments and a cure, and to support families affected by Niemann-Pick Disease, is to participate in this October's Online Auction as a donor and/or a buyer.

It’s a win-win-win situation – the winning bidder gets a great deal on something they like with the added satisfaction of knowing their money is supporting a favorite cause, while the donor has a great feeling knowing their gift will go far to help families affected by NPD. Best of all, the NNPDF is able to use the proceeds to diligently advance our mutual Quest for a Cure!

There are three ways you can help us make this auction a big success: donate an item(s) for auction; bid on auction items; and spread the word to all your family and friends so they can bid, too! (Please visit our Web site for all the details.)

We are busy getting our auction site set up so you can start to "window shop" the items up for sale. Please check the foundation's Online Auction Web page next week for a link to the auction itself. And we hope to hear from you soon regarding what you might be able to donate for this exciting new fundraising opportunity!

As always, Thank You for your continued support! Together, we can make a difference!

2010 Pentchev Research Fellowships Announced

The NNPDF is pleased to announce the recipients of the 2010 Peter G. Pentchev Postdoctoral Research Fellowships!

The research projects of Dr. Nicholas Cianciola of Case Western Reserve University, and Dr. Dorothea Maetzel of the Whitehead Institute for Biomedical Research, were selected through an application process which included reviews by the members of the NNPDF's Scientific Advisory Board (SAB).

Dr. Dan Ory, Chair of the NNPDF's Scientific Advisory Board summarized the two selected projects:

1. Nicholas Cianciola - "Activation of an alternative cholesterol homeostatic mechanism in NPC"
Dr. Cianciola’s project builds upon an exciting observation he made while a graduate student and will explore the role of a viral protein in facilitating movement of cholesterol from lysosomes. The research has the potential to identify new therapeutic targets to stimulate release of cholesterol from lysosomes in the absence of a functional NPC1 protein.

2. Dorothea Maetzel - "In Vitro modelling of Niemann-Pick type C Disease Using Patient-Specific Induced Pluripotent Stem Cells"
Dr. Maetzel’s project will lead to development of pluripotent stem cells from human NPC mutant fibroblasts. The stem cells will then be used for high throughput assays to identify small molecules that can correct the cholesterol accumulation in the NPC cells. Development of these cell lines will allow allow testing of whether the genetic defect can be corrected in the stem cells, which could have therapeutic potential.

For more details, including links to the two researchers' Lay Summaries, please visit the National Niemann-Pick Disease Foundation's Latest Research page.

Congratulations, Dr. Cianciola and Dr. Maetzel! Thank you for your work in advancing Our Quest for a Cure!