Gordon Conference on Lysosomal Storage Diseases

January 23-28, 2011
Galveston, Texas

Today marks the conclusion of the first-ever Gordon Research Conference on lysosomal storage diseases. This extremely prestigious conference of the scientific community featured topics including the basic science of lysosomal biology and function, relationships of lysosomal diseases to other neurological diseases, pathogenic cascades, biomarkers, recent advances in therapy, and clinical trials and design.

Niemann-Pick Disease is one of over 50 known lysosomal storage diseases. The NNPDF is pleased to have been able to sponsor attendance at the conference, helping to ensure that promising research fellows are able to participate and share in the knowledge bank at this world-renowned gathering.

The Gordon Research Conferences (GRC) is a non-profit organization managed by and for the benefit of the scientific community, providing an international forum for the presentation and discussion of frontier research in the biological, chemical, and physical sciences, and their related technologies.

For more information about Niemann-Pick Disease, visit http://www.nnpdf.org/.

Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials

A note from Genzyme - January 2011:

Genzyme is continuing efforts to develop recombinant human acid sphingomyelinase (rhASM) for the potential treatment of the non-neurological manifestations of acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). After completing the Phase 1 clinical trial in 2009, we engaged regulatory authorities in discussion about plans for a Phase 2 clinical trial and conducted additional preclinical research in 2010. This regulatory dialogue is ongoing. We remain committed to the development of a therapy for ASMD and will keep the community informed once our regulatory discussions are complete and we can confirm a start date for the Phase 2 clinical trial for Niemann-Pick B patients.

We are pleased to note that an abstract from the Phase 1 clinical trial was selected for a podium presentation by Dr. Margaret McGovern at the 7th annual lysosomal disease network's WORLD conference, to be held in Las Vegas, February 16-18, 2011.

Genzyme Corporation
500 Kendall Street
Cambridge, MA 02142
www.genzyme.com


(To learn more about Niemann-Pick Disease, visit www.nnpdf.org. To learn more about these clinical trials, please visit the National Niemann-Pick Disease Foundation's Enzyme Replacement Therapy page.)

New Test Promises to Find Fatal Diseases Before Conception

Test Could Determine if Parents Are Carriers for Genetic Diseases

A new DNA test has been developed to identify carriers of 580 of the most severe inherited childhood diseases. Announced in the journal Science in Translational Medicine, the test uses genetic sequencing to identify recessive mutations.

The new test could be used before a couple decides to become parents. Currently, preconception testing is recommended for just a few diseases, such as Tay-Sachs and cystic fibrosis, and can cost as much as $2,000.

According to abcnews.go.com, this new carrier screening may cost less than $400, and may become available in the near future. Clinical work will be done at Children's Mercy Hospital in Kansas City, Missouri.

The test will likely be a blood test and later a simple swab of the cheek. Egg and sperm banks may be the first industry to adopt the testing to screen potential donors.

For a link to more information, including the ABC News article, visit the NNPDF's Latest Research page.

Rare Disease Day - February 28, 2011

"Alone we are Rare,
together we are Strong."

The National Organization for Rare Diseases (NORD) will celebrate Rare Disease Day on Monday, February 28.

This year’s worldwide theme is “Rare but Equal” which will highlight “Rare Diseases and Health Inequalities.”

A disease or disorder is defined as rare in the USA if it affects fewer than 200,000 Americans at any given time. Thirty million Americans are affected by rare diseases, including those affected by Niemann-Pick Disease.

Join hands with others around the world, and get involved in raising awareness of rare diseases. Please visit the NNPDF NewsLine page for more information and links to videos and stories of those whose lives are affected by rare diseases.

Guy Michael Borsetti Heikila

Guy Michael Borsetti Heikila
(NPC)
4/8/79 - 1/13/11

We are extremely sad to report that Guy Michael Borsetti Heikila, age 31, of Milford, New Hampshire, passed away January 13, due to Niemann-Pick Disease Type C.

Survivors include his parents, Steven and Marie J. (Corriere) Heikila of Nashua, NH, and Michael and Jane Borsetti of Sebago, ME. Also, his brother, Gunnar Borsetti; four sisters -- Moriah Borsetti, and Stephanie, Lauren and Rachel Heikila; maternal grandmother, Ida Corriere; paternal grandparents, Howard and Ann Bray; one niece, Sophia Savard; and several aunts, uncles and cousins.

The funeral will be held at Christian Bible Church, 205 Manchester St., Nashua, NH, on Tuesday, January 18, 2011, at 11:00 AM. The family suggests, in lieu of flowers, that donations may be made in Guy's loving memory to: The National Niemann-Pick Disease Foundation (NNPDF), P.O. Box 310, Fort Atkinson, WI 53538, or online at http://www.nnpdf.org/.

Please visit the NNPDF Web site's NewsLine page for more information.

Adam James Edward Reimer

Adam James Edward Reimer (NPC)
Dec. 30, 1986 - Jan. 11, 2011

With great sadness, we pass along news of the death of Adam James Edward Reimer, age 24, due to the effects of Niemann-Pick Disease Type C.

Adam is survived by his parents, Don and Maggie Reimer of Cultus Lake, British Columbia, his brother, Ryan (Margo) Dear, and his sister, Erin Reimer.

After a long and courageous battle with NPC, surrounded by his family, his best friend Ian Fournier, Ian's fiance Felicia, and his other "big brother" Steve Hiscoe, Adam passed away in the early hours of January 11, 2011.

A 2005 graduate of Sardis Senior Secondary School, Adam played hockey in the Chilliwack Minor Hockey league and hockey was his life. Everyone who knew Adam realized that they'd better bone up on the Canucks before they went to see him. Adam loved to dance and had a wicked sense of humor. His smile would light up the room.

We extend our heartfelt sympathy to Adam's family and many friends in their loss.

In lieu of flowers, memorial donations may be made to the Canadian Chapter of the National Niemann Pick Disease Foundation (CCNNPDF).

For more information about Niemann-Pick Disease, please visit the National Niemann-Pick Disease Foundation (NNPDF) at www.nnpdf.org.

Fishing for Charities Tournament Trail Featured in Online Fishermen Magazine

The Online Outdoorsmen magazine, Online Fishermen, recently published a story about Fishing for Charities, a fishing tournament trail which raises funds for charitable causes, including Niemann-Pick Disease. Dwayne Linkous, father of 14-year-old Raiden Linkous (NPC), coordinates the tournament trail with the help of some good friends and fishing buddies.

Check out the story on the Online Fishermen (scroll to pages 46-47) or visit the NNPDF's NewsLine page for a link to a JPG of the article.

The NNPDF will be the recipient of funds raised on May 28, 2011, at Claytor Lake, Virginia, in honor of Raiden Linkous (NPC).

For full details including registration information, rules, etc., please visit www.fishingforcharities.net.

"Here for You Always" Special Music Video Project

Singer-songwriter Rachel Taylor, cousin of NNPDF member Lorna Tyrrell (mom of Naomi, NPC), has a song on her new CD titled, "Here for You Always."

The song's message is so appropriate for our loved ones with Niemann-Pick Disease that we decided to create a video/slideshow montage of the song set to photos of our NNPDF members, and we are asking for your help!

For this project, we are gathering a few choice photos of children and adults with Niemann-Pick Disease together with their parents, grandparents, siblings, friends, classmates, pets, etc., to illustrate the song's lyrics of love, support, and nurturing relationships.

For all the details including links to the song, the lyrics, and a photo release form, please visit our special "Here for You Always" Web page at the NNPDF's Web site.

We are eager to get this project underway, so please respond by Valentine's Day, Monday, February 14. Thank you!