Thursday, April 28, 2011

NPC Conference Call/Webinar with NIH on Monday, May 2


On Monday, May 2, 2011, the NNPDF will host a conference call/Webinar (online meeting) with key constituents and researchers, for all interested parties in the Niemann-Pick Disease Type C (NPC) community to learn more about the work being done at the NIH. Parents and extended family members, clinicians, researchers, caregivers, educators, and anyone with an interest in NPC is invited to participate.

Agenda topics for the conference call/Webinar are expected to include: NPC Observational Study at the NIH; development of NPC biomarkers; the NAC trial; use of a blood test for NPC diagnosis; and the current effort at TRND/NIH toward developing plans for a cyclodextrin trial at NIH. Presenters/experts we expect will participate include: Dr. Forbes “Denny” Porter, Dr. Daniel Ory, Dr. Marc Patterson, and Dr. Christopher Austin.

This meeting will begin at 4:00 pm Central Time (5:00 pm Eastern, 2:00 pm Pacific). International participants are invited, as well.

The meeting will be held using GlobalMeet’s “PGiMeet” interface. Participants will need access to a telephone for the audio portion of the call, as well as a computer to log in to a Web page to see any documents and graphics. Therefore, Internet access as well as access to a telephone will be required for full participation. (Those without access to a computer may participate in the audio portion only by telephone.)

Visit the NNPDF Web site for instructions on how to join the call/Webinar.

Friday, April 22, 2011

Good Things Happening at Genzyme





Sanofi-Aventis Prioritizes Enzyme Replacement Therapy and
Genzyme to be Honored by NORD


Sanofi-Aventis CEO Chris Viehbacher recently outlined the research and development strategy that led to the purchase of Genzyme Corp., and which will lead the company to further expand its partnerships and acquisitions.

Good news for Niemann-Pick Disease Type B patients -- Viehbacher announced that three Genzyme programs would be priorities in particular, one being Genzyme's enzyme replacement therapy for NPB.

Genzyme is also in the news being honored by the National Organization for Rare Diseases (NORD), the nonprofit organization representing 30 million Americans with rare diseases, at NORD's annual Partners in Progress Celebration on May 17. Genzyme will receive the first-ever Power of Partnership Award.

Genzyme's Boston Marathon Team paired up with an NNPDF Type B family, and the runners dedicated their race in honor of their partners, wearing their partners' photos on their shirts. The Power of Partnership Award will now be presented annually to individuals, organizations, or companies for outstanding acts of volunteerism demonstrating partnership with the rare disease patient community.

Visit the NNPDF NewsLine page for more information and links.

Congratulations, and Thank You to Genzyme!

Wednesday, April 20, 2011

Cyclodextrin Conference Call May 2, 2011




NIH to Develop Clinical Trial Utilizing Cyclodextrin
Informational Conference Call Scheduled
Monday, May 2, 2011
5:00 pm Eastern Time, 4:00 pm Central Time, 2:00 pm Pacific Time

The National Institutes of Health (NIH), in collaboration with the Therapeutics for Rare and Neglected Diseases Program (TRND), is developing a clinical trial utilizing cyclodextrin for Niemann-Pick Type C patients.

The clinical trial is in the planning phase and many criteria must be met and numerous approvals granted before the trial can take place. Dr. Forbes "Denny" Porter, a Senior Investigator at the NIH, and Dr. Daniel Ory, NNPDF Scientific Advisory Board Chair, are working collaboratively to bring this trial to our NPC patient community.

SAVE THE DATE
On Monday, May 2, 2011, the NNPDF will host a conference call with key constituents and researchers, for all interested parties in the NPC community to learn more about the work being done at the NIH. This conference call will include information pertaining to the development of plans for a cyclodextrin trial. The call will begin at 5:00 pm Eastern Time, 4:00 pm Central Time, and 2:00 pm Pacific Time.

For more details, visit the NNPDF Web site.

Monday, April 18, 2011

NNPDF Family Support and Medical Conference - Save the Dates!

19th Annual NNPDF Family Support and Medical Conference July 28 - 31, 2011

Watch your mailbox! Members of the NNPDF will be receiving a "Save the Date" card for the 2011 NNPDF Family Support and Medical Conference. The conference is being planned for Norfolk, Virginia, overlooking the harbor, at the Sheraton Norfolk Waterside Hotel, from Thursday, July 28 through Sunday, July 31.

Special Family Conference hotel rates include a choice of rooms: City View room for $89 per night ($101.57 with 13% taxes and $1.00 fee); or Harbor View room for $109 per night ($124.17 with 13% taxes and $1.00 fee).

When making your reservation, be sure to ask for the special NNPDF Family Conference block rate. Special conference rates include apron dates for those who wish to extend their stay in Norfolk. Special rates at the Sheraton are available from Sunday, July 24 - Tuesday, August 2 (departure on Wednesday, August 3), subject to availability.

Make your hotel reservations online today or call: Sheraton Central Reservations Desk (Toll Free): 888-627-8042 or the Sheraton Norfolk Waterside Hotel direct number: 757-622-6664. The deadline for reservations at the special rates is Monday, June 27th. Payment for one night's lodging is required to hold your room.

Visit our special Family Conference page for more conference details. Registration packets will be mailed out in May. In the meantime, please contact the NNPDF if you have any questions or if we can be of any assistance as you make plans to attend the NNPDF Family Conference.

Wednesday, April 13, 2011

NNPDF Research Updates

Postdoctoral Fellows Report on their Work

The NNPDF is very pleased to currently be providing support to four postdoctoral research fellows, all conducting studies on various aspects of Niemann-Pick Disease.

The four fellows, Dr. Fabrizio Vacca, Dr. Ian Williams, Dr. Nicholas Cianciola, and Dr. Dorothea Maetzel, recently sent us updates on their ongoing research projects. The NNPDF extends its great appreciation to these scientists as they work to unlock the mysteries of NPD, and to hasten the journey to effective treatments and a cure.

Please visit the NNPDF’s Fellowships Funded page to read the latest reports from our postdoctoral fellows.

Research funded by the NNPDF is made possible largely due to the diligent efforts of our member families and their extended support networks hosting local community events. The NNPDF is truly grateful for this support! Thank you for your help as we PERSEVERE in our Quest for a Cure!

Thursday, April 7, 2011

NIH to Develop Clinical Trial Utilizing Cyclodextrin

Informational Conference Call to be Scheduled

The National Institutes of Health (NIH), in collaboration with the Therapeutics for Rare and Neglected Diseases Program (TRND), is developing a clinical trial utilizing cyclodextrin for Niemann-Pick Type C patients.

The clinical trial is in the planning phase and many criteria must be met and numerous approvals granted before the trial can take place. Dr. Porter, a Senior Investigator at the NIH, and Dr. Ory, NNPDF Scientific Advisory Board Chair, are working collaboratively to bring this trial to our NPC patient community.

In early May, the NNPDF will host a conference call with key constituents and researchers, for all interested parties in the NPC community to learn more about the work being done at the NIH. This conference call will include information pertaining to the development of plans for a cyclodextrin trial.

As a date and details for the conference call are confirmed, the NNPDF will update and inform our NPC family membership with the call-in information, agenda outlines and topics of discussion. We anticipate that after the presentation, the conference call format will allow participants to submit questions to the speakers/researchers.

Further updates on the clinical trial will be presented at the NNPDF Family Support and Medical Conference in Norfolk, Virginia, July 28th - 31st. Dr. Porter and Dr. Ory will answer questions pertaining to the clinical trial and will report up-to-date information about the trial at the conference.

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

Tuesday, April 5, 2011

Paper Published on Study of Histone Deacetylase Inhibitor for Use in NPC


A paper claiming a breakthrough in the fight against Niemann-Pick Disease Type C (NPC) appeared in a recent issue of Proceedings of the National Academy of Sciences (PNAS). The paper, coauthored by Olaf Wiest and Paul Helquist of the University of Notre Dame and Frederick Maxfield of Cornell University, says the use of an unspecified histone deacetylase inhibitor corrects the damage done by the genetic disorder NPC and allowed once-diseased cells to function normally.

To help understand the press release issued by Notre Dame on March 21, the NNPDF consulted three respected experts in Niemann-Pick Disease Type C: Dr. Dan Ory of Washington University, Dr. Marc Patterson of Mayo Clinic, and Dr. Denny Porter of the National Institutes of Health. These experts caution against jumping to premature conclusions.

For more details, including links to the press release and the article abstract, along with statements from the experts consulted by the NNPDF, please visit our Latest Research page.