New information about Diagnostic and Genetic Testing for all forms of Niemann-Pick:
A number of laboratories have recently expanded testing services for a variety of lysosomal storage diseases, including Niemann-Pick disease types A, B and C. This is particularly significant due to the recent discontinuation of some types of biochemical testing for NPA and NPB, especially prenatal testing in the USA.
DNA based testing, also called molecular testing, is now clinically available to look for mutations causing NPA and NPB in affected individuals, and is available in an additional 2 laboratories for NPC for testing of affected individuals. If such testing reveals the mutations that caused the disease in the affected family member, carrier testing for immediate family members and prenatal testing for the parents of the affected individual would also be available. Costs and time to complete the testing vary depending on the type of testing, the disease and the laboratory doing the testing. Interpretation of test results may be complex and thus involvement of a genetics health care professional (genetic counselor, genetics nurse, MD geneticist) in the testing process is highly recommended.
For more details about the testing, or for referral to local genetic services to obtain testing, please contact Cate Walsh Vockley, MS, CGC, NNPDF Coordinator of Education, Referral and Advocacy at 412-692-7349.
[ Feb. 26, 2007 ]
The 8th Annual Lee King Benefit Bass Tournament will be held June 9th at Lakepoint State Park Resort on Lake Eufala, AL. The day's events include the Bass Tournament (with $10,000 in cash prizes), kid's fun day (free to families), and a Kid's Fishing Tournament.
To add to the excitement, there is also the drawing that determines the winner of the 2007 Boat Raffle. The prize is a Stratos 285 Pro XL bass boat with a Mercury 150 Optimax engine - a prize package valued at over $24,000. It's ready to go so the winner can head for the lake right away! (Note: You do not have to be present to win).
From Jeff Foran, NNPDF Executive Director:
"Greetings from the NNPDF Office. Your Foundation's Board of Directors held its annual meeting in Milwaukee, Wisconsin from 2-4
February. The Foundation is in sound financial condition and the Board enthusiastically received reports on our Family Services and
Research programs. Among the meeting's highlights was the election of Foundation Officers for 2007:
Chair - Barb Vorpahl,
Vice Chair - Doug Pease,
Secretary - Tammy Vaughn,
Treasurer - Wayne Moore.
Outgoing Board Chair Hunt Ozmer will serve as the at-large delegate to the Foundation's Executive Committee.
Other highlights included presentation of the Foundation's strategic plan for Family services, which will strengthen our work to support families affected by Niemann-Pick Disease. The Board approved new research grants, which we will announce formally once contracts are signed, and it also began a strategic planning process to evaluate and strengthen the NNPDF research program.
Several changes to the Foundation's bylaws were approved the most significant of which was the elimination of membership dues. NNPDF
is a foundation that provides services to all individuals affected by Niemann-Pick Disease regardless of their ability to pay dues. While we ask and hope that families will help the Foundation through personal contributions and fund raising initiatives, we do not
require any payments for our services or our work. We hope this step opens NNPDF to even more individuals and families affected by
Niemann-Pick Disease and who share our goal to find treatments and a cure.
A summary of all Board actions will be posted on the NNPDF web site soon. Other exciting changes are also coming, so visit www.nnpdf.org often."
[ Feb. 7, 2007 ]
The Recke family is behind the 2nd Annual Race for Adam / Race for the Cure in Allentown, PA. The 5K race/walk will be held May 20th with raffles, live bands, food, and other events. You can register online or by mail at the Race for Adam Foundation website. [ Jan 12, 2007 ]
A new listserv is now available for Type A families, friends, and supporters. This email list allows families to communicate with others who face the same situation. You can join online or by email by visiting the NNPDF Mailing List page.
NNPDF now offers four support listservs - one for each Niemann-Pick Type (A, B, and C) and one for siblings. We also provide access to For The Angels, a list for families who have lost children to Niemann-Pick. [ Jan 12, 2007 ]
The 2007 Annual Board Meeting is slated to be held in Milwaukee, Wisconsin over the weekend of February 2nd, 3rd, and 4th 2007. This annual Board Meeting is open to all foundation members. Please contact the NNPDF Central Office if you would like to receive information about the meeting. [ Jan 3, 2007 ]
Brian Demeules reports that the Type B clinical trialfor enzyme replacement therapy has been approved by the FDA and recruiting has started! The Phase I trial will recruit 15 patients to evaluate dosing levels and possible side effects. Contact Dr. Margaret McGovern at Mount Sinai School of Medicine for information on the trial. News concerning the trial will be reported on our ERT Clinical Trial page as it becomes available.
Genzyme Corp. developed the enzyme replacement therapy and has worked hard to obtain FDA approval for this trial. There have been repeated delays as the FDA requested more information about clincial progression of Type B, manufacturing, and other issues. NNPDF has invited Genzyme representatives to the annual Family Conference for many years and the collaboration of Genzyme, Mount Sinai, and the Type B families has led to this exciting advance. [ Nov. 16, 2006 ]
Dr. Peter Pentchev has written an article on the role of patient advocacy groups in speeding research and drug development for rare diseases. The article can be read in the Cell journal. Although NNPDF is not mentioned in the article, many of our activities are described including:
Funding the pilot research studies necessary to obtain NIH funding. The allopregnanalone research began with a pilot study funded by NNPDF.
Bringing scientists together in collaborative discussions. NNPDF was co-sponsor of the 1st International Symposium on NPC and holds annual meetings of the Scientific Advisory Board.
Being a conduit to recruit clinical trial participants. See the article above.
Putting researchers in touch with families. Numerous researchers have commented on the impact of meeting families at the NNPDF annual conference. As one researcher said, "This is the first time I've ever met the person whose cells I study".
[ Nov. 16, 2006 ]
The 2007 NNPDF Family Conference will be held in Milwaukee, Wisconsin. Exact dates and venue are still being finalized but you can look forward to an exciting conference. The hosts will be the Foran, Hill, and Vorpahl families - assisted by the citizens of Fort Atkinson who have supported NNPDF since its founding. More information on the conference will be posted as it becomes available. [ Nov. 16, 2006 ]
NNPDF has hired Dr. Jeffery Foran as Executive Director of the Foundation. Dr. Foran has over 20 years experience with non-profits, most recently as President of the Midwest Center for Environmental Science and Public Policy. He is also an adjunct faculty member at the University of Wisconsin-Milwaukee and has been an advisor to the World Health Organization and the Center for Disease Control. Dr. Foran has extensive fund raising experience and has published numerous scientific articles.
As Executive Director, Dr. Foran will oversee all of the Foundation's daily activities but will focus on expanding fund raising and strategic planning. Nadine Hill, who directs family support activities and manages the office, will continue in her position.
NNPDF started as an all volunteer organization. As the foundation grew, the work load also grew - more families needed help, more researchers applied for grants, more companies and institutions asked for our assistance, and more complicated issues arose. Volunteer efforts were not enough to meet our goals. The hiring of Dr. Foran is another step forward toward finding a cure for all forms of Niemann-Pick Disease. [ Aug. 10, 2006 ]
We sadly report two additional losses to Niemann-Pick.
Zoe Bachman passed away on June 9th of respiratory complications related to Niemann-Pick. Zoe had received two stem cell transplants (cord blood) at Duke University Hospital as an experimental treatment. While her enzyme levels returned to normal after the second transplant, severe lung damage had already occured. Her mother said "She has been a real trooper through it all. Through it all she kept her beautiful smile. She could brighten up a room just by smiling."
Breann Chavez passed away at home in the arms of her parents on June 8th of complications from Niemann-Pick Type B. Breann's mother said "She spent her
last weeks surrounded by people who loved her. She was even able to be in her make-a wish, hot tub, up till just a few days before passing."
Our condolences go out to beoth families. [ June 26, 2006 ]
Rhonda Kehoe-Brown, Director of Support Services, is collecting stories from Niemann-Pick families about what is is and was like to have a child diagnosed with Niemann-Pick. She is going to write up the stories to help families who are still searching to find what is wrong with their child. You can send Rhonda your story at slainte23@msn.com. [ May 22, 2006 ]
Family Conference Registration Packets have been mailed to all families. If you weren't on our mailing list, you can get the packet from the Family Conference page. [ May 19, 2006 ]
We've been told of three new fund raising efforts that will take place this year. If you've been thinking "it's time to do something", take inspiration from these new supporters!
Marty and Michelle Roberts have organized Australia's 1st Annual Cycle 4 Sam Bike Ride. To be held April 19th to 26th, the ride will follow the Great Ocean Road from Torquay (near Melbourne) to Adelaide - a distance of 985 km (611 miles). Seven riders have committed to riding the entire course and many others will participate along different segments. A dinner, raffle, and silent auction will be held April 8th - before the ride. Proceeds support the Pallitive Care Service of the Adelaide Women's and Children's Hospital. Sam Roberts (NPC) spent two years living at Pallitive Care Services before succombing to a respiratory infection. Sam's story, and more information about the bike ride, can be found at Cycle 4 Sam.
Caterina Canino and friends are organizing a Walk-A-Thon for June 25th in Waterbury, CT. They are presently recruiting sponsors and finalizing plans for the event, which we hope will become a regular affair. Contact Caterina for more information.
Region 4 of the BASS Federation of Virginia is planning to donate half the proceeds from their Fall fishing tournament to NNPDF. Dwayne Linkous successfully proposed NNPDF as a deserving recipient of their efforts. Dwayne's son, Raiden, has NPC. The fishing tournament will be held at Smith Mountain Lake, near Roanoke.
[ March 30, 2006 ]
"It is with a very heavy heart and great sorrow to let you all know that our little angel, Emma Lou Shaffer has gone to be with the angles. She passed away at home on December 18, 2005 at 6:15 pm pacific time. She was just shy of her 3rd birthday.
Kim Shaffer"
The Foundation extends its condolences to the Shaffer family on their loss. [ Dec. 19, 2005 ]
Many people have been participating in the "Persevere" bracelet campaign. Joe and Julie Nieto sent the following story to Lorna Tyrell who created the bracelet campaign. Order your own Persevere Bracelet or Persevere Clothing.
"Julie and I were flying home from Chicago yesterday and I noticed a women standing 20-25 feet away from us in line waiting to board the same flight we were on. Of particular notice was the periwinkle colored bracelet she had on. I mentioned it to Julie and said we should inquire about her bracelet to see if it was a “Persevere” bracelet. Due to the hustle of boarding and getting settled I wasn’t certain if we would get the chance.
God provided us that chance…as she sat directly in front of Julie! Julie stood and inquired about her bracelet and yes, the bracelet was a “PERSEVERE” bracelet! The women, Trisha Larson, mother of Jared (NPC 3/5/90-5/16/01) proudly shared her story of the bracelet when Julie held out her wrist, wearing the same bracelet, then shared her story of our Jake.
It was Hallmark moment, two mothers brought together for a moment in the aisle, not by fate, but Gods will! And because of you these two mothers were able to share that brief moment, a tender hug, having little in common up to that point in time, yet knowing they have traveled the same journey. You must know that without the bracelet this would not have been possible. You played a part in bringing these two mothers together, once strangers, forever friends sharing a common bond between them.
When we landed we spent a few moments at the airport chatting and I snapped this picture to send to you."
[ Dec. 11, 2005 ]
Two new Niemann-Pick foundations have been established: the Italian National Association for Niemann-Pick Disease and NNPDF Canada. The Italian group is a family support organization. NNPDF Canada was founded by Tammy Vaughn and the Leigghio family last year to increase Canadian awareness and fundraising for research. [ Nov. 26, 2005 ]
Nadine Hill is attending a conference in Boston. She will be out of the NNPDF office from November 23rd through December 5th. Voicemail messages will be checked and responded to but responses to email will be delayed during this period.
The Facilitative Leadership Conference is sponsored by Genzyme. NNPDF is one of about 25 nonprofit organizations invited to participate. [ Nov. 23, 2005 ]
The first interim results of the Zavesca clinical trial were reported at the American Society of Human Genetics conference this week. The analysis showed "trends toward improvement or stabilization" in eye movement, swallowing, and hearing. Dr. Patterson, author of the published study, said "we have been able to observe some potentially beneficial effects in patients with NP-C". The Actelion announcement also notes that the results are "not statistically significant" and that the Zavesca trial "will continue as planned for a further 12 months".
Mike Trombley found a neat site. Frappr maps lets NNPDF families show where they are. Just enter your ZIP code, a comment, and a family photo. Its fun. Visit the map to add yourself and see the latest updates. [ Oct. 26, 2005 ]
The FDA approved the first brain stem cell transplant clinical trial in humans. Six children with Batten's Disease will have holes drilled in their skulls and immature neuronal cells will be injected. The trial is a Phase I study meant only to determine the safety of the procedure. The trial will last at least one year.
Batten's Disease causes seizures, blindness, and progressive neurological decline with . The most severe forms result in death by age five. Batten's Disease is a lysosomal storage disease. Additional trials will be needed in the future to determine if the transplant actually slows the disease. [ Oct. 25, 2005 ]
Ryan Richardson has passed away. His mother wrote "It is with a heavy heart to inform our extended family, that our beloved son became an angel at 12:10 am 10/18/05. He suffers no more and is finally at peace." Ryan was known to many through his wonderful smile at Family Conferences and his starring role in the "Ryan's Life" video. Read the tribute to Ryan.
Our condolences to the Richardson family and Ryan's many friends. [ Oct. 19, 2005 ]
Rozetta and Charles Beckman have notified us that their son Chuck (Charles Lewis) Beckman died on Friday. Chuck was 36 and had NPC. He was able to be home with his parents and was resting in their arms when he slipped away. The Beckman's are asking that memorials be sent to the National Niemann-Pick Disease Foundation in his memory.
Our sympathies to the Beckman family and friends. [ Oct. 17, 2005 ]
Juan Giron died on October 5th. After Juan lost his son to Niemann-Pick several years ago, he determined to found the Fundacion Niemann-Pick de Espana to provide support to other Spanish families. Juan became the Foundation's first president and oversaw its growth to 42 families from Spain and Latin America. Our condolences to Juan's family and his friends. [ Oct. 17, 2005 ]
We have been informed that Heldamarie Ramos passed away on October 10th. She was 30 years old and had NPC. Many families have met her father, Ricardo, at the family conferences. Ricardo wrote "I tried to prepare myself for this day. I find that you can't prepare ... It didn't make me miss her any less. I was fortunate in that I was able to see Heldamarie rollerskate and ride her bike and graduate from high school and grow up into the kind, compassionate and beautiful young lady that she was.
Now I have the consolation of knowing that she's in a better place. That even though she was unable to walk or talk or even eat, she is now running and dancing and singing and feasting, and free of the hardships of this disease."
Our condolences to the Heldamarie's family and friends on their loss. [ Oct. 13, 2005 ]
October is Niemann-Pick Awareness Month. Our Awareness page has tips and tools to help make your awareness event a success. New items this year include the Persevere bracelet, the James Brown public service announcement, and an awareness ad created by the Charleston Orwig advertising agency. We also have a Guide to Getting Media Coverage to help you get the word out. [ Sept. 28, 2005 ]
We have received word that Mantissa Alves passed away at age 10. Her family wrote "Mantissa Magalhães Alves, ours princess now is an angel. She was passed them in dawn of 15/08/2005. It left in our hearts in pretty moments e true lessons of life. We always she´s loved. Our thoughts and conjuncts they will be always with the NP children. Sincerely, Fernandinho, Fernanda and Sebastião"
Our condolences to Mantissa's family and friends in Brazil. [ Sept. 28, 2005 ]
Dr. Steven Walkley, Chairman of the Foundation's Scientific Advisory Board, had an OP-ED piece published in the Los Angeles Times. The article focuses on the importance of research into rare diseases, like Niemann-Pick. The article can be found at LA Times or at Op-Ed (scroll down to the Sept 3rd issue). [ Sept. 6, 2005 ]
On August 29th, we were informed that Erica Gallegos had died. Erica was 22 years old and had NPC. Erica was at home with her parents when she passed away peacefully. Our condolences to the Gallegos family on their loss. [ Sept. 14, 2005 ]
Hurricane Katrina has affected our website and some of our families. Our website host was located in New Orleans and has been down for some time. They are working to restore the website as soon as possible. In the mean time, we have the site up temporarily at "www.nnpdf2.org".
The Pease and Ward families were forced to evacuate due to the hurricane. Both families are safe. The Wards are in Oxford, MS. The Pease family is planning to join us in Wisconsin in a week or so. [ Sept. 1, 2005 ]
Kevin Eadie was featured today in The Washington Post. The article highlighted his job with the Pennisula Pilots as bat boy this summer and his struggle with Niemann-Pick Type C. Read The Champ
here (registration is required but its free). [ Aug. 27, 2005 ]
October is Niemann-Pick Disease Awareness Month. Start planning for your event now at our Awareness page. We have new tools to help you make this year's campaign even better. [ Aug. 27, 2005 ]
From Glen Shepherd - "On behalf of Cindy, Michael and Ara Parseghian I wish to share with you that Marcia Parseghian passed away on Saturday in the arms of her mother and father...and with many friends and family members by her side. She would have been 17 in November.
Our hearts are broken...but not our resolve to find a treatment and cure for this disease as quickly as possible. "
Our deepest condolences go to the Parseghians, who are well known among Niemann-Pick families and friends. The Parseghians established the Ara Parseghian Medical Research Foundation in 1994 to foster research into Niemann-Pick Type C. The Parseghian Foundation has since raised over $22 million for research and is the largest private funder of Niemann-Pick research in the world.
The NNPDF ofice is moving across to new quarters this weekend. The Family Conference is next weekend. Please be patient - it will take a little longer to respond to inquiries during this week. [ August 1, 2005 ]
The Niemann-Pick community has been saddened again.
Sophia Herzog Sachs died peacefully in her sleep on Monday, July 25th at the tender age of four of NPD Type A. Her laughter and smile were contagious and her eyes expressed a gentle, wise and communicative spirit. Through the years Sophia and her parents, Karen and Richard, have been supported by love, friendship and compassion which spawned a strong sense of community and healing for both Sophia and her family. Visit Sophia's Garden
Thad and Leah Limer notified the central office this morning that their son, Andrew Thad Limer, their "heart & soul", died on Wednesday evening
surrounded by the love and peace of his adoring family. Andrew valiantly fought his battle with NPD Type C and was such an inspiration to all who
knew him during the 9 short years that he was with us.
Our condolences to both families and to the friends of Sophia and Andrew. [ July 30, 2005 ]
Jackie Imrie works with the Niemann-Pick Disease Group (UK). She and her daughter were in London during the recent terrorist attack. Both are fine. Jackie said "Beth and I are just recovering from a stressful day yesterday. She was attending an interview in London so I took her down and we were caught up in the drama surrounding the atrocities. We were both fine and did manage to get home safe but it shook us especially when we realized people were trying to phone us to make sure we were alive."
Jackie and Beth are planning to attend the conference in LA again this summer. Jackie will be working with Cate Walsh-Vockley on a couple of presentations and Beth has offered to volunteer, once again, in the child-care/activity room. [ July 9, 2005 ]
Another loss in the NP family. Bob Semple let us know that his son, Scott Semple, passed away from complications of NPC on July 3rd. Scott was 25. Mr. Semple also said "Scott's funeral was beautiful. People got up in church and talked about how he touched their hearts. Two young men the same age as Scott told the story about how Scott brought them to the point where they have made it their calling to care for people like Scott.
Tonight Deb and I went down to the beach to reflect on Scott's life. We were only there 10 minutes when a dark clowd came in and started to rain, within 2 minutes the sun came out while raining and a wonderfull double rainbow, we could see its full length. A sign from Scott he is fine. "HE IS NOW FREE" Dancing in heaven!!!
[ July 9, 2005 ]
Gene and Dolores Thompson have informed us that their daughter, Janice, passed away at home. Mrs. Thompson sent in a tribute to her daughter. [ June 20, 2005 ]
Cindy Parseghian and Andrea Marella were interviewed on the Today Show this morning about Niemann-Pick and the need for research and awareness. The two got rave reviews from families who watched the segment. Cindy is head of the Ara Parseghian Medical Research Foundation. Andrea is a founder and trustee of Dana's Angels Research Trust. [ June 16, 2005 ]
Tammy Vaughn wrote "It is with great sadness and a heavy heart that I let everyone know that Luke Leigghio passed away on Friday afternoon, June 10th. Luke was surrounded by the love of his Daddy Enio and Mommy Lucy, sister Vanessa, and all of Enio's and Lucy's families. Luke is now an angel in heaven playing and laughing. He will be greatly missed and loved forever." Our condolences to the Leiggho family. [ June 12, 2005 ]
Our dear friend Miriam has contacted the foundation to advise us that her precious daughter, Ivana Polic, died from NPD Type C on May 29th, 2005.
Miriam and Ivana attended a number of family conferences together. The Polic's returned to their native Argentina last year. Miriam said (and I paraphrase):
Ivana was buried all in white like an angel with the company of friends and family in Bariloche, where she was born. The mass was in the same chapel that she was baptised in. Our heart is broken, I do not know how to live without her. Ivana used to ski at the Bariloche ski resort and now she is without pain en el Valle del Descanso (in the Valley of Tranquility).
Our deepest sympathies and condolences to the Polic family and friends in their time of loss. [ June 4, 2005 ]
Registration for the 13th Family Conference was due into the NNPDF Office by June 1st. If you missed the deadline, don't despair! If you hurry, you can get the forms into Nadine and make your hotel reservation before we have to cancel our block of available rooms on July 1st. The registration packet can be found on the Family Conference page. This year's conference is hosted by Stephanie Cortes and the Demoulas family at the Marriot in Manhatten Beach.
Among the speakers will be Drs. Desnick, Packman, Patterson, Schuchman, and Walkely. Cate Walsh-Vockley, NP Coordinator, will also be there. Equally important as the formal presentations is the chance to share your experiences with other NP families, doctors, and researchers. Plenty of time is being kept open for this one-on-one time of renewal, sharing, and learning. [ June 4, 2005 ]
Congratulations to Lynda Reger and Pam Hunt on completing their Ride Across America last Sunday! The ladies were welcomed at the Atlantic Ocean by friends, family, and NASA astronauts. Lynda and Pam rode 3,181 miles in two months to raise awareness and funds for Niemann-Pick and cancer. Pam had an especially busy few days as her new grandson arrived as well. [ April 30, 2005 ]
The National Institutes of Health has funded the Lipid Metabolites and Pathways Strategy with a five-year, $35 million grant. The project has three goals: to separate and detect all the lipids in the cell and characterize any novel lipids present; measure each of the lipid metabolites in the cell and changes in their levels and locations during cellular processes; and define and map biochemical pathways and interaction networks for each lipid. The NPC1 and NPC2 genes are major components in the transport of cholesterol and other lipids in the cell. Over the last few years, there has been a growing interest by research scientists in Niemann-Pick and other lysosomal storage diseases. These rare diseases may hold the key to understanding Alzheimer's, Parkinson's, ALS, and other neurodegenerative diseases. NNPDF has been funding research projects into lipid pathways for several years. It continues to be a high priority as a way to identify potential therapies. [ April 30, 2005 ]
We have been informed that Sam Roberts passed away on Tuesday of complications from NPC. The family's message said "Our beautiful Sam is now an angel in heaven. He passed away peacefully in the arms of his mum and dad at 4.50 a.m. this morning. Thank you to you all for your support and love of our precious little boy and of our family." Our condolences to the Roberts family and to Sam's friends and supporters in Australia. [ April 24, 2005 ]
Registration packets for the Los Angeles Family Conference have been mailed out. The conference is being held August 4th through the 7th. Additional information can be found on our Family Conference page. [ April 24, 2005 ]
Nikki Harrison (Actelion project manager) has provided an update on the OGT-918 trial for NPC.
"The data collection for first 12 months of the study will be closed and the interim data analysis will begin in the summer of 2005.
At the point of closure of the data collection, a process will begin to validate the data, identify missing information, compare data and check for consistency between centers, the data also will be analyzed by external assessors. This process is likely to take several months due to the complexity of the disease however we hope that the initial results from the first 12 months of the trial will be available at the end of the year.
All patients currently taking part in the trial who have reached either Month 12 (Paediatrics) or Month 24 (Adults) will be given the option to continue the provision of treatment on an extended use study. This additional therapy will be provided to patients until such time as results are available from the Interim analysis.
It is difficult to know at this stage if we can expect positive results from 12 months of therapy in patients with Niemann-Pick type C disease but we very much hope that the signs will be positive and we remain committed to the study." [ April 17, 2005 ]
Ride Across America - Lynda and Pam are now in Florida on the last leg of their trip. They have ridden over 2,700 miles - and are still on schedule. They hope to reach Cocoa Beach next Sunday (April 24th) where a Welcome celebration is being planned by friends and supporters. Pam is especially eager to complete the ride - not only is Florida home for her but a new grandchild is expected soon! Read about their adventures on their web journal. [ April 17, 2005 ]
The Alzheimer's Research Trust recently announced a major study into why eating oily fish appears to reduce dementia. This will be a three year study. Preliminary research has shown that eating oily fish, like salmon, sardines, and mackeral, improved brain function. It is theorized that the omega 3 oils reduce the build up of amyloid plaque in the brain. The new study will try to confirm that.
Research over the past several years has shown similarities between Niemann-Pick Type C and Alzheimer's Disease. One of the similarities is the build up of neurofibullary tangles caused by amyloid plaques. [ April 17, 2005 ]
Rafael Filgueira Sanchez inspired a unique awareness campaign for the Fundacion Niemann-Pick de Espana (the Spanish NP foundation). His brother Jose built a 12 meter racing ship and decorated it with the foundation logo. In its first race, the ship took 2nd place in its class and 4th place overall (Picture). The "Fundacion Niemann-Pick" races for the Club Nautical of Portonovo. [ March 26, 2005 ]
Ride Across America - Lynda and Pam are near Del Rio Texas and almost halfway through their 3,000 mile trip. They are back in civilization (meaning Internet service) so you can catch up on their adventures on their web journal. [ March 26, 2005 ]
The Martin family family sent the following message: "Little Harry is with the angels now. He went in his sleep last night. He was so happy during the day laughing and having a good time,it's almost like he knew it was his last day because he didn't seem to be in any pain. Little Harry will always be my big guy and will always
be loved. I hope and pray for a miracle for the other kids."
Our condolences to the Martin family on their loss. [ March 20, 2005 ]
Melissa King has resigned as NNPDF Director of Fundraising. Melissa has held the position for several years and been active in developing new ideas to help families organize fund raisers. The Foundation wishes to express its appreciation to Melissa for all her efforts. [ March 20, 2005 ]
Ride Across America - is on day 20 and over 1,000 miles into their cross-country journey. Lynda and Pam are now in Texas. Their web journal is getting a break for a few days as they travel through areas with no Internet or cell phone service. [ March 20, 2005 ]
Jessica Hunter is the third child to receive a cord blood transplant for Niemann-Pick Type A. Jessica is 7 months old and received the transplant in early March. She has company with Anna Phillips Evans, also NPA, who received a cord blood transplant yesterday. Our prayers and best wishes go out to both families. You can keep up with their progress at Jessica's website and Anna's website. [ March 17, 2005 ]
Ride Across America - on schedule after 9 days and 460 miles. Lynda and Pam have left Phoenix and are heading toward New Mexico. Keep up on their progress by visiting their web journal - and post a comment to cheer them on. A longer story about the ride appears below. [ March 10, 2005 ]
The FDA has stopped 27 gene therapy clinical trials in the United States. The moratorium was announced after a second child in a trial in Europe developed leukemia and the cause was traced to the gene therapy trial. The trials that have been stopped use retroviruses to deliver the correct gene to cells. Another 170 gene therapy trials that use different techniques are under review. The Niemann-Pick Disease Group (UK) with assistance from NNPDF funded a multi-year study into better gene therapy delivery systems. That study is complete and the data is being analyzed. [ March 5, 2005 ]
Last June, Hannah Stimell was diagnosed with Niemann-Pick Type A at six months old. Her parents made the difficult choice to try a cord blood transplant as the only possible chance to save their daughter. After the transplant, Hannah's liver and spleen showed improvement but there was no way to determine if the transplant would slow or stop the neurological problems. The New York Times reported on Hannah and her family's decision in December when she returned home.
Hannah passed away from respiratory failure last month, possibly a complication of the transplant. Her family made a second difficult decision after her death to help other Type A children. Doctors are now trying to determine if the cord blood transplant reduced Hannah's neurological problems. This was the second cord blood transplant to be performed for Niemann-Pick Type A. No clear results have been found in either case.
Our condolences go out to the Stimell family on the loss of their daughter. [ March 5, 2005 ]
Lynda Reger and Pam Hunt will Ride Across America in support of medical research. Lynda is riding to raise funds for Niemann-Pick research in memory of her nephew and niece, Alex and Laura Vaughn (both NPC). Pam is riding to raise funds for cancer research in honor of her son. The trip starts March 1st in San Diego, California. The two plan on taking two months to ride the 3,000 miles to Cocoa Beach, Florida. Lynda is from Durham, Ontario and had no experience with long distance bicycling until last summer.
Their trip will take them near Phoenix, El Paso, San Antonio, Houston, New Orleans, Mobile, and Tallahassee. Check their itinerary to see if you live nearby and can cheer them on. You can keep up on their progress by visiting their web journal. You can also show your support for Lynda by making an online donation to NNPDF. Be sure to dedicate your donation to the "Ride Across America". [ Feb. 22, 2005 ]
James Brown, anchor of Fox NFL Sunday and spokesperson for NNPDF, will be interviewed on Fox & Friends on February 6th (Sunday). In the interview, he will speak about Niemann-Pick disease, his relationship with Hunter Ozmer (NPC), and his work with the Foundation. Fox & Friends begins at 7 a.m. ET on the Fox News channel. The exact time for the interview has not yet been determined - but we may know tommorrow.
JB is in Jacksonville to provide Fox Sports coverage for the Super Bowl. Other reporters covering the Super Bowl are being asked to watch the interview and provide additional local coverage. [ Feb. 4, 2005 ]
The family of Anoud Al-Senany has informed us that she passed away December 30th from complications of Niemann-Pick. She was surrounded by her family at the time. Her father wrote "Although Anoud speaks only some words, she communicated her determination to take part in life to everyone who knew her. We will not say she lost her battle to Niemann-Pick Disease, because even though this disease took everything else from Anoud, it could not kill her terrific character, nor her beautiful smile which lasted till her last minute in earth. She was fighting and trying to defeat this disease with courage and determination until her body gave up on her. She is our beloved Hero! We admire her courage!" Our deep condolences to the family on their loss. [ Jan. 16, 2005 ]
The Fox NFL Sunday broadcast on December 26th included the wearing the NNPDF lapel pins and an explanation of the disease by James Brown. Since then, the NNPDF website has had over 1,600 first time visitors learning about Niemann-Pick. Our thanks to James Brown and Fox Sports for their efforts to raise awareness. [ Jan. 1, 2005 ]
So put on your Hard Hat (& your Thinking Cap!) and pitch in!!
Send us YOUR OWN NEWS relevant to battling Niemann-Pick Disease: fund-raising event announcements; reports on completed fund-raisers; local publicity on Niemann-Pick Disease; ideas for helpful services for NPD families; useful links to other websites; practical suggestions for NPD patient care; medical and technical questions; comments; and your own Website ideas.
To give us information for NewsLine or updates or feedback on this Website,
please email Janet and Doug Pease.
The In Memory page honors those who have died from all types of Niemann-Pick Disease. Families should contact Janet and Doug Pease to provide additional names and information.
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July 1993 Dr. Eugene Carstea receives the first grant awarded by NNPDF to identify the NPC1 gene. The Ara Parseghian Medical Research Foundation and the National Institutes of Health are major co-sponsors of this research.
July 1997 The National Institutes of Health announce the discovery of the NPC1 gene. Mutations of this gene account for 95% of the Niemann-Pick C cases studied. The discovery was announced July 11,1997, in Science magazine. Congratulations and many thanks to Dr. Peter Pentchev, Dr. Eugene Carstea and to the entire research team!
August 2000 Oxford GlycoSciences announces it will fund a clinical trial using OGT-918 to treat Niemann-Pick Type C. Dr. Steven Walkley's research on NPC mice (presented earlier at the NNPDF Family Conference) indicates OGT-918 may slow the neurological progress of NPC.
December 2000 The discovery of the NPC2 gene and the possible identification of the function of the NPC1 gene were announced in three articles on Niemann-Pick in the December 22, 2000 issue of Science. Dr. Peter Lobel and team identified HE1 as the gene causing NPC2. Dr. Yiannis A. Ioannou and team found evidence that the NPC1 gene acts as a pump to move fatty acids out of the lysosome. These discoveries are important guides to future research efforts.
February 2002 The OGT-918 clinical trial begins in the United Kingdom. Approval of the trial in the United States is received later in the year.
March 2004 The pediatric trial for OGT-198 is approved in the United States. Approval in the United Kingdom had been received earlier in the year.
[These older Newsline items were major breakthroughs in Niemann-Pick Type C research. We keep them on the page to remember where the research started and where it is going]
For older items that have been on newsline, visit the Newsline Archive 2004.