Parents united to find a cure

Do you Shop Amazon? If so you can help!!

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If you are an Amazon Shopper, you can help without spending anything additional !   Please follow this link and shop using “Amazon Smile” to have 0.5% of all your purchases going to Team Sanfilippo for research for the kids!!

AmazonSmile: You shop. Amazon gives. www.smile.amazon.com

 

The NYPD Boxing Club along with Police Commissioner Kelly Wednesday presented Team Sanfilippo Foundation with a check for $20,000 at Police Headquarters. The donation, made possible by June’s charity bout between NYPD and LAPD, will be used to fund medical research in the hopes of finding a cure for Sanfilippo Syndrome.

 

We want to THANK the NYPD,  all the participants, LAPD, and spectators for supporting Team Sanfilippo this year with this awesome event!!  Being presented with the check is the O’Connor Family, their daughter Emily has Sanfilippo Syndrome. Check out Emily’s Page at https://www.facebook.com/Emilysdance

Gene Therapy Coming for 2014! See how you can help!

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 LET’S CROSS THE FINISH LINE TOGETHER

 Gene Therapy for Sanfilippo A and B

 

 A consortium of family foundations from around the world have come together in an effort to fund clinical trials in 2014 for Sanfilippo A and B using gene therapy. The trials will be conducted at Nationwide Children’s Hospital in Columbus, Ohio.  We urge everyone to get involved by hosting a small fundraiser this summer to raise needed funds to make this a reality.  We have all worked hard through The Pepsi Challenge and other fundraisers to fund Sanfilippo A animal studies for gene therapy.  Researchers and clinicians are now ready to bring potential treatments for both Sanfilippo A and B to human clinical trials together, side by side.  We are all in this fight together and we need everyone’s participation.  Even if it is as small as a change box at work that raises $100 its one step closer. Together we can move mountains.

 

 The two lead products, ABX-A and ABX-B, uniquely deliver the therapeutic product to the CNS with the aim of preventing and/or reversing the effects of the genetic errors that cause the disease. ABX-A and ABX-B induce cells in the CNS and digestive tract to produce the missing enzymes and help repair and prevent damage caused to the cells. Safety studies conducted in large animal models have demonstrated that delivery of ABX-A and ABX-B are well-tolerated with minimal side effects. Importantly, efficacy studies in animals with Sanfilippo syndrome have demonstrated unprecedented therapeutic benefit months after treatment. A single dose of ABX-A or ABX-B significantly restored normal cell and organ function and increased the lifespan of animals with SF over 100% a year after treatment compared to untreated control animals. Similarly, animals treated with ABX-A and ABX-B demonstrated corrections of cognitive defects that remained months after drug administration. These results are consistent with studies from several laboratories suggesting ABX-A and ABX-B treatment could potentially benefit patients with Sanfilippo Syndrome Type A and B, respectively.

 ABX-A and ABX-B will be administered systemically for efficient drug delivery to the whole body and CNS – a significant advantage over current therapy options.

 Please contact us at teamsanfilippo@gmail.com if you can help. We welcome any contribution you can make to our mission.

Gene Therapy, Trials for Sanfilippo A and B children 2014!!

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 LET’S CROSS THE FINISH LINE TOGETHER

 Gene Therapy for Sanfilippo A and B

 

 A consortium of family foundations from around the world have come together to fund clinical trials in 2014 for Sanfilippo A and B using gene therapy. The trials will be conducted at Nationwide Children’s Hospital in Columbus, Ohio.  We urge everyone to get involved by hosting a small fundraiser this summer to raise needed funds to make this a reality.  We have all worked hard through The Pepsi Challenge and other fundraisers to fund Sanfilippo A animal studies for gene therapy.  Researchers and clinicians are now ready to bring potential treatments for both Sanfilippo A and B to human clinical trials together, side by side.  We are all in this fight together and we need everyone’s participation.  Even if it is as small as a change box at work that raises $100 its one step closer. Together we can move mountains.

 

 The two lead products, ABX-A and ABX-B, uniquely deliver the therapeutic product to the CNS with the aim of preventing and/or reversing the effects of the genetic errors that cause the disease. ABX-A and ABX-B induce cells in the CNS and digestive tract to produce the missing enzymes and help repair and prevent damage caused to the cells. Safety studies conducted in large animal models have demonstrated that delivery of ABX-A and ABX-B are well-tolerated with minimal side effects. Importantly, efficacy studies in animals with Sanfilippo syndrome have demonstrated unprecedented therapeutic benefit months after treatment. A single dose of ABX-A or ABX-B significantly restored normal cell and organ function and increased the lifespan of animals with SF over 100% a year after treatment compared to untreated control animals. Similarly, animals treated with ABX-A and ABX-B demonstrated corrections of cognitive defects that remained months after drug administration. These results are consistent with studies from several laboratories suggesting ABX-A and ABX-B treatment could potentially benefit patients with Sanfilippo Syndrome Type A and B, respectively.

 

 ABX-A and ABX-B will be administered systemically for efficient drug delivery to the whole body and CNS – a significant advantage over current therapy options.

 

 Please contact us at teamsanfilippo@gmail.com if you can help. We welcome any contribution you can make to our mission.

Illinois friends, teachers and family bring awareness and funds for Sanfilippo Syndrome!

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   I just wanted to share what a wonderful success we, Team Jake Elston had at selling t-shirts to raise awareness and how it became a great      way to support Team Sanfilippo financially as well. We are teachers, friends and family of Jake Elston… 53 t-shirts were sold (which brought $380 in contributions) and three other individuals gave additionally ($220) for Team Sanfilippo; totaling $600 in donations/contributions-through two checks recently sent as well as an online donation.

 
  Above is a recent picture of Jake Elston in his new classroom at LEE Elementary and the a picture of the
 t-shirts we sold.
 
 
 
These are some of the folks who are currently working with Jake and are a part of Team Jake and the recent t-shirt sales to raise awareness. Thank you from Team Sanfilippo for being such a great support to Jake, his family and the Sanfilippo community! It speaks volumes about your character and how much you care!
 
 
These are some of the shirts we wear and sold!

Fundraising / Family Events!

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Sunday May 19, 2013

12 noon – 4:00pm

Emily’s 3rd Annual Fundraiser to Benefit Team Sanfilippo

Gatelot Avenue Eleentary School

See Flyer for additional fun for kids and adults . (Yard Sale begins at 10am) 

This event gets great reviews from everyine who has attended in the past, both adults and children!!

Tee it up at Sugarloaf!

SUGARLOAF TOWNSHIP — Golfers hit the links in Luzerne County Saturday to help find a cure for a rare disease that affects children.

About 120 golfers took part in the third annual Beat M.P.S. Golf Tournament at Sugarloaf Golf Club.

M.P.S. also known as Sanfilippo disease, is a disorder that causes progressive brain damage in children. Those with the disease are not expected to live into their teens.

The tournament raises money and awareness to help find a cure.

The event was organized by Carl Kapes, originally from the Hazleton area. Kapes has two sons with the rare disease. ….. read more here and watch video too! http://wnep.com/2012/10/01/teeing-it-up-for-a-good-cause/

 

BioMarin Acquires Zacharon Pharmaceuticals

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This is a result of the 2010 Grant we gave thru your contributions, now coming to fruition!! Thank you! Substrate Optimization Therapy Sanfilippo A,B,C and MPSI and II
Zacharon Pharmaceuticals
2010




January 7, 2013
BioMarin Acquires Zacharon Pharmaceuticals

Lead Program Focused on the Oral Treatment of MPS III

Acquisition Augments Existing Analytical Capabilities and Expertise in Glycobiology

SAN RAFAEL, Calif., Jan. 7, 2013 (GLOBE NEWSWIRE) — BioMarin Pharmaceutical Inc. (Nasdaq:BMRN) announced today that it has acquired Zacharon Pharmaceuticals, a private biotechnology company based in San Diego focused on developing small molecules targeting pathways of glycan and glycolipid metabolism.

Zacharon drug discovery projects include two ongoing lead optimization programs, inhibition of heparan sulfate synthesis for MPS III and other MPS disorders, and inhibition of ganglioside synthesis for diseases such as Tay Sachs and Sandhoff. Zacharon’s proprietary SensiPro® platform is a powerful technology for analysis of specific carbohydrate structures and therefore the identification of candidate drugs to treat those conditions.

Hank Fuchs, M.D., Executive Vice President and Chief Medical Officer of BioMarin said, “Zacharon’s lead program, focused on reducing the accumulation of heparan sulfate, offers the exciting prospect of treating both the CNS and peripheral manifestations of MPS III, and potentially other MPS disorders, with an orally bioavailable small molecule. In general, reducing the synthesis of the target substrate alleviates the burden on the compromised lysosomal system, and this therapeutic approach has been clinically validated with other enzyme inhibitors. Zacharon’s deep expertise in glycobiology has generated additional programs for treating lysosomal storage disorders that we expect to progress, and we will leverage that expertise to continue to build BioMarin’s existing research and development pipeline into a sustainably leading pipeline.”

READ MORE….. Full Press Release

Teeing It Up For A Good Cause

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Posted on: 7:06 am, October 1, 2012, by

SUGARLOAF TOWNSHIP — Golfers hit the links in Luzerne County Saturday to help find a cure for a rare disease that affects children.

About 120 golfers took part in the third annual Beat M.P.S. Golf Tournament at Sugarloaf Golf Club.

M.P.S. also known as Sanfilippo disease, is a disorder that causes progressive brain damage in children. Those with the disease are not expected to live into their teens.

The tournament raises money and awareness to help find a cure.

The event was organized by Carl Kapes, originally from the Hazleton area. Kapes has two sons with the rare disease. ….. read more here and watch video too! http://wnep.com/2012/10/01/teeing-it-up-for-a-good-cause/

Chase Giving Campaign 2012 – Congratulations to The Will Luthcke Foundation!

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Chase Giving Campaign this year had several Sanfilippo organizations that received grants. This was a home run for the sanfilippo community, as this competition is a hard one to win with each person only  able to give 1 -2 votes for any one organziation. You only got a second vote for the same organization if you received a “bonus” vote thru someone voting from a link you posted. 3 votes were pretty much a maximum with 2 possibly going to the same organization.

We are proud to announce that “The Will Luthcke Foundation” of Alabama earned a 50k grant thru the 5095  votes given  to them in this compettion. This organization partners with Team Sanfilippo, helping to fund research to help find treatments and cures for the children!  Two other organization earned 20K grants each as well!!

CONGRATULATIONS!!  AND THANK YOU TO EVERYONE WHO VOTED FOR THIS ORGANIZATION!

 

Good Samaritans turn tough situation into blessing for Blount family

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  Jennifer and Chester Hembree know what it means to be a family that lives on their faith.

     They saw proof of this recently. Someone stole a generator needed to power their son’s medical equipment, and within 24 hours, someone else had donated a new generator, as well as a new wheelchair lift.

“We said we knew the Lord would take care of us, and the next thing we knew, we were covered up with calls,” Chester Hembree said. “It was like something you would see in a movie. It definitely rings true. This is the Volunteer State, and people step up help.

To read the full story click here http://www.knoxnews.com/news/2012/aug/07/good-samaritans-turn-tough-situation-into-for/

I Tried It: Mount Kilimanjaro Workout with Preston and Steve’s Nick McIlwain

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Two questions crossed my mind as I strolled into East Norriton’s Retro Fitness on Monday afternoon, fully prepared to have my butt whooped: How does someone train to climb a mountain in a place like Philadelphia? And how on earth did Preston and Steve Show producer and on-air personality, Nick McIlwain, who once busted his Achilles on the dance floor at a wedding, get roped into climbing the tallest mountain in Africa?

But as I followed his trainer, Nick Rueger, to the gym floor and caught a glimpse of McIlwain’s face, already glistening with sweat as he worked his arms on a weight machine, I realized this was no time for questions. I hopped on to the elliptical for a quick warm-up. It was time to get to work.  

Rueger set up stations for a circuit workout. First it was 20 squats on the bosu with a medicine ball overhead, followed by 15 seconds of mountain-climbers (why not?!). Next we did 20 weighted rows in a squat position, and I got in 12 (girly) push-ups while McIlwain did 15 or so high jumps onto a platform. Then I did the jumps as McIlwain did his push-ups (they were real ones, I checked). “One down, seven to go,” Rueger said. We completed the circuit eight times.

The conversation loosened as the endorphins began to flow. “So how exactly do you train someone to climb a mountain?”  Read more here… http://blogs.phillymag.com/bewellphilly/2012/07/24/it-nick-mcilwains-mt-kilimanjaro-workout/