Parents united to find a cure

Team Sanfilippo Update November 28, 2019

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January 17, 2020

Today we are excited to announce that Kathy Nay will be joining our Team as a Board Member. Kathy has been a long-time supporter of TSF and has been helping in many aspects of the foundation behind the scenes. Today we’d like to welcome her in an official capacity to continue working with us and expanding her role into areas where needed.

Kathy Nay is the mother of Miriam “Miri” Nay, MPS IIIB, age 9. Kathy lives just outside of Philadelphia, PA with her husband, Josh, daughter Miri, and Jack (age 6, unaffected carrier). Miri was diagnosed in December of 2014 and spent 2.5 years in an enzyme replacement clinical trial before it was abruptly cancelled. Miri is currently residing in the nonverbal but hyperactive phase of Sanfilippo syndrome.

Kathy works full-time as an academic advisor to health science students at The University of the Sciences in Philadelphia. She has a love of animals and can frequently be found singing showtunes when not being forced to watch Mickey Mouse Clubhouse for the millionth time by Miri.

Welcome to our Team Kathy!! 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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 Giving Tuesday is here for 2019, December 3, 2019. 

The push for funding on this date is special for many reasons, especially for TSF, as this a time when FB others will match funds up to 7K for non profits! 

We look forward to our friends using Giving Tuesday not only to give, but to encourage others to support causes, neighbors, homeless on the street etc that  they feel strongly about during a time of the holidays when may feel alone. We of course want you help your fellow man, but we also ask that you consider donations and asking friends to do the same to help TSF to expand trials and add new trials to help the sanfilippo community. Our kids are dying everyday usually before age 20. This year alone since September 1, 2019 – November 29, 2019  We have mourned and celebrated life of 15 Sanfilippo children passing on. Only 3 of those were over the age 20,  the other 12 were all 15 or younger.  With science and trials coming forward we should not have to continue burying our children at such an early age. The current trials are helping, but we still have a way to go and have not found that cure yet!  We truly believe it will come as a combinations of things. 

Please consider a donation today and encourage at least 2 friends to do the same. You can see the trials we are funding currently and past for our kids.  Go the donate link and give if will, no amount is too small! Every dollar counts. We are a foudation with low overhead of 90% or more going to the trials, research and helping families in real time. 

Thank you for your kindness to our community, may God bless you with abundance for your kindness! here’s a link to open a calendar of ideas of things to do good each in December 2019 that might inspire you some way to help those around you daily! 

Dec 2019 giving calendar

 

 

 

 

 

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FEBRUARY 14, 2019 –  FIRST CLINICAL TRIAL FOR ALL TYPES AND AGES OF SANFILIPPO SYNDROME ! 

Today TSF INC. (Team Sanfilippo Foundation) announces  a clinical collaboration to evaluate the safety and efficacy of Bioblast’s proprietary Trehalose solution for the treatment of patients with Sanfilippo syndrome.
Under the terms of the collaboration, TSF plans to conduct an open label study in up to 20 Sanfilippo patients, which will be followed for safety and efficacy. If successful, based on the results of such study, Bioblast may determine to continue the development of Trehalose towards a pivotal study for this extra rare disease while maintaining full commercial rights. TSF received FDA approval for this study was last week.
“We are excited to be working with TSF to explore the potential of Trehalose in this rare and devastating disease,” said Dalia Megiddo, M.D., interim Chief Executive Officer of Bioblast. Read more here about Bioblast, Trehalose and TSF!> https://www.nasdaq.com/press-release/bioblast-pharma-announces-collaboration-with-team-sanfilippo-to-evaluate-trehalose–for-the–20190214-01371?fbclid=IwAR1aUqGit2AbxVjuciiXd4hXETEm6sfP-uXFij_vuhMW0wtMG7HC776EEvU 

This is something that we the board at TSF have done studies on in mice and researched about over a few years now! This has been a desire of our to bring to the children to bring a better quality of life to ALL  TYPES AND AGES of Sanfilippo! 

Thank you to our President Kathleen Buckley who has never given up in getting this passed thru the FDA and clinicians for the trials as well as  Danielle our Treasurer, and Patty our Vice President who also met with the CEO of BioBlast and , Chief Medical officer and lawyers in NYC to present our case to the company for Sanfilippo! 

Last but most importantly, we want to THANK every person who has donated, held a fundraiser, raised awareness and supported TSF in anyway!  Without you and the funding to be able to do this, this would not be happening. We will be gearing up to raise more funds, as we have another clinical trial waiting in the wings to bring out before Fall if all goes well ! 

Thank you so much, and we hope you will continue to support us as we search for that cure as well one day! Many trials are happening now, but none have been a proven cure YET!   We are suspecting a combination of treatments may be needed to conquer the complexity of Sanfilippo! 

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November 16, 2018 – We wanted to take this opportunity to post a list of trials happening currently in USA and some crossing over into other countries as well. Still no treatments for all children, but this is a step in the right direction. A few of the trials are trying to engage a few older children / adults if the criteria can be met in the testing stage.  Thank for all your support, we are still pushing at getting more trials to both children and the older population. Follow us on FB at http://facebook.com/teamsanfilippo   for more updates and happenings in our community as well ! 

For clickable links click doc attached !

TSF Trial doc nov 2018

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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June 13, 2018 – Team Sanfilippo Foundation is proud to announce our collaboration with Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) in Fairfax Virginia for a 6 month study of a potential drug candidate for Sanfilippo Syndrome. This will include testing for effectiveness across all types (A,B,C,D)
Testing will begin in July to screen a drug candidate in patient derived blood samples with Sanfilippo Syndrome (MPS-III A, B, C and D).”

The drug is being studied to prove its ability to clear undigested proteins from the lysosome by activating the Autophagy pathway (the body’s own garbage dump system).

We will be able to move quickly to patient studies if the research proves the clearance of proteins. We are hopeful for positive results that may lead to a viable treatment to lessen the burden of the disease.

We thank all our supporters for their ongoing fundraising efforts that allow us to fund research into clinically viable drugs to help our children in the short term. More help will be needed to fund a potential trial if we are successful and we will be ramping up fundraising to help us achieve our goals. Please contact us if you’d like to do fundraising for our Team. We cannot help our kids without your help.

This is THE FIRST time ALL TYPES of Sanfilippo will be participating in this type of study!!! This is so exciting for our community. If this proves successful, this is also not an age or regression restricted type of treatment. This is what we ALL could use as A TEAM!!! If you would like to speak to anyone about this, you can contact Kathy Buckley (President) at 518-879-6571, Patty Taormino (VP) 410-227-5711, and Danielle O’Connor (Treasurer and fundraising) 330-354-6401

We are SUPER EXCITED about this!!! Please share this announcement with everyone!! The more who see it, the more donations we get, the more children!

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BioMarin Sanfilippo Syndrome Type B (MPS IIIB) Clinical Development Program

An Update for Patient Associations and Families

May 2018

We would like to update you about the status of our clinical development program in Sanfilippo B. The BioMarin program, which involves multiple centers around the world, consists of three studies, described below.

The first study is an observational study of children with Sanfilippo B and includes testing of cognitive and adaptive function. The observational study lasts for 48 weeks. The tests explore how the child thinks and acquires new information as well as how the child deals with daily living. There are also assessments of behavior and quality of life. This study is intended to provide baseline information about how children with Sanfilippo B progress in the absence of treatment. This baseline information may then be compared to disease progression information from BioMarin’s treatment study (both for individual children and in aggregate).

The observational study is being conducted at sites in Australia, Colombia, Germany, Spain, Taiwan, Turkey, UK and USA. Enrollment to this study is now complete.

For more details, please visit: https://clinicaltrials.gov/show/NCT02493998

The second study is a treatment study in which children with Sanfilippo B will receive an investigational enzyme replacement therapy, known as BMN 250. The enzyme is administered directly to the brain as an infusion via a surgically implanted port. To enroll in the treatment study, a child must have completed the observational study as outlined above. This study is being conducted at the same centers. Children who have previously received an investigational drug as part of another clinical study, including gene therapy, may not be enrolled in this study.

For more details, please visit: https://clinicaltrials.gov/show/NCT02754076

The third study is a natural history study of children with Sanfilippo B up to 18 years old, who do not meet the criteria for participation in the observational study. Children enrolled into this study do not receive the investigational treatment. The objective of this study is to better understand the natural course of Sanfilippo B.

For more details, please visit: https://clinicaltrials.gov/ct2/show/NCT03227042

MMRC/BMN25/0041

Your child’s doctor remains the best source of information regarding the care of your child and any questions or concerns should be directed to your child’s doctor.

If you represent a patient association, please contact BioMarin Patient Advocacy patientadvocacy@bmrn.com. Alternatively, please email BioMarin Medical Information medinfo@bmrn.com

For more information about active clinical studies, including Sanfilippo Type B, please visit https://www.clinicaltrials.gov or https://www.clinicaltrialsregister.eu/
MMRC/BMN25/0041
 

 

 

 

 

 

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Updated: Dec. 2017 Below – We and several other foundations have funded and advanced more gene therapy trials with Abeona, and we at currently looking to finalize our contract and funding for this trial. Funds are critical to further these trial. A trial on average to treat 15-20 children costs average of 10 million. So again please.. these are trials, we need these to get done in order to get to hopeful FDA approved treatments. The cost is not cheap as we are so rare!!  Drug companies don’t like investing in small populations. That’s why we need you!!  Thank you! 

UPDATE  DEC. 2017

Gene therapy
Enzyme replacement therapy
Hematopoietic stem cell transplantation
Small molecule(substrate reduction therapy, chaperones)

Gene Therapy:
Abeona Therapeutics:
Team Sanfilippo grants $4,000,000 to open Phase 1B for three classes of patients; Children older than 7, children with AAV9 antibodies, and children previously treated with ert.
https://finance.yahoo.com/news/abeona-announces-13-85m-grant-122705356.html
“Abeona is pleased to continue our global collaboration with the Sanfilippo foundations to help further advance our gene therapy programs for MPS III disease,” said Timothy J. Miller, Ph.D., president and chief executive officer of Abeona Therapeutics. “The effort and expertise that we continue to commit to the ABO-102 and ABO-101 programs puts us in a strong position to further extend the important progress reported to date. We are grateful to the foundations for their ongoing commitment to identifying and facilitating the development of clinical innovation to treat patients with MPS III disease.”

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Armagen almost under contract for type A now.. Dec 2017!! A Christmas Blessing if we finalize this for all ages! 

May 24th 2017 – ArmaGen breaks thru the BBB in humans with ERT!  We’ve been watching this companies pipeline for 18 months now just waiting for the time to bring this treatment to Sanfilippo. While 2 other companies are dropping ERT trials, ArmaGen is trending in the most advanced process so far with minimal risk and side effect. Here is the latest report on what’s happening in another MPS disease that has been being treated for over 52 weeks now. http://armagen.com/news/trial-shows-armagen-biologic-improves-cognition-hurler-syndrome-patients/

This process looks promising for so many neurocognitive diseases. Please read our latetest in “Whats Happening” on how you can help. We have partnered with Armagen and have met with FDA to move this forward to our Sanfilippo kids by years end or first quarter of 2018!

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Team Sanfilippo is preparing to do a 6 month research study on MMJ for sleep, dystonia and hyperactive behavior. We would like to see if there is any interest in our Sanfilippo community. The criteria is that you have to live in MMJ legal state, not be on MMJ currently, have a MMJ doctor to prescribe and follow patient and have one of the three symptoms. We feel that if we could have a published research specifically on improvements with Sanfilippo then we could get better access to MMJ.
Please post if you are interested and send Kathleen an email kbuckley12866@gmail.com

We constantly are working on improving quality of life and we believe that MMJ may be able to improve sleep and movement disorders and we hope to be able to prove it through a clinical study.

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Ten Sanfilippo Families Needed for Pilot Testing of Genetic Screening Program 

 

We at Team Sanfilippo have partnered with DNAcheckup, a new nonprofit organization, whose goal is to provide genetic data through saliva testing to families of patients diagnosed with recessive genetic disorders.  This pilot program is for a limited amount of families and the initial requirement for the ten families is that the patient must have already obtained a genetic screening, so their mutations are known.  From the patient’s data, family members (mother, father, siblings, uncles, aunts and cousins) will be tested for just the mutations known in the patient.  This data can be used to determine (in coordination with your physician or genetic counselor) the family member’s carrier status for family planning decisions, like the utilization of in vitro fertilization.  The pilot program is meant to give DNAcheckup a test run of their processes and to provide potential funders with testimonials and assurance that their services are needed and are working properly.   This pilot program will be able to help DNAcheckup refine their processes and feedback from participants is essential.  In 2017, DNAcheckup plans to raise funds to provide free testing to many more families of patients with recessive genetic disorders.   The costs of the testing (saliva kit, shipping and lab testing) will be free to the pilot program participants.   The pilot program is open to US families but in the future DNAcheckup will provide testing globally.   To find out more about participating, please contact order@dnacheckup.org directly and they will call you with additional details and logistics.   We are excited to fund the pilot program testing costs for our patient families in partnership with DNAcheckup and look forward to when DNAcheckup can expand this program to ALL of our families.   For further information about the pilot program and DNAcheckup go to http://www.dnacheckup.org/wp-content/uploads/2016/08/DNAcheckup.pdf

 
 
 
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abeonalogo
 
 
 
 
 
October 5, 2016-  With first rounds of gene therapy in Type A proving safe thus far, Abeona Therapeutics Announces Data Safety Monitoring Board Approves ABO-102 Dose Escalation for Second Cohort in Phase 1/2 Clinical Trial for Sanfilippo Syndrome Type A. This is wonderful news and things are going as planned thus far for the trials.
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May 24, 2016 at 7:13:28 AM
 It is with happiness that I can share with you all that the IND for the MPS IIIB phase 1/2 clinical trial has received allowance by the FDA. Please find attached the press release sharing this important news! We have much to be grateful for and are doing all we can to progress this critical research.

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abeonalogo

 

 

We are so happy this is finally happening after the research that started out 18 years from one family organization, “Ben’s Dream”. Unfortunately their son never got see the treatment. In Honor of Benjamin Siedman, we pray this therapy works! For the past 10 years Team Sanfilippo and many others have organized to pool our money together for this therapy! Now it is time to continue on for treatments for quality of life for ALL the kids who do not qualify for this trial or treatment! This one thing Team Sanfilippo has always and will always do, is work for treatments for ALL Sanfilippo kids at different stages of the disease, not just a cure the young one! The family foundations who have worked so hard over the many years can be happy for future generations, but as for their own children they will never see the cure and those who are still with us, still continue to decline and all desperately need quality of life treatments. Please continue to fund raise, donate and share with others, as watching the suffering of these children while the doctors having no answer is cruel.  We at TSF work to fill that gap!

http://m.marketwired.com/news_room/Itemid2Release?id=11G098450-001

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Biomarin enrolls first patient with Sanfilippo B ….

http://investors.bmrn.com/releasedetail.cfm?ReleaseID=966351

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[Read more…]

May 12, 2014 – Sanfilippo Syndrome, FDA Orphan Designations for Gene Therapy for Type A and B

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May 12, 2014 -Abeona Therapeutics Receives U.S. Orphan Drug Designations for treatment of Sanfilippo Syndromes A and B

Team Sanfilippo along with numbers of other patient advocate groups and organizations are continuing to raise much needed  funds to advance its gene therapy-based clinical programs for both Sanfilippo Syndrome type A and B. Phase I/II clinical trials for both diseases are anticipated to begin in 2014 now we have approval.

Abeona Therapeutics – named after the Roman Goddess who is the protector of children – was formed in early 2013 to help focus the search for a cure for Sanfilippo Syndrome and provide a unifying voice between patient advocate groups, researchers, clinicians and investors. Abeona Therapeutics is the result of collaborative efforts between Nationwide Children’s Hospital and multiple international patient advocate groups for developing Sanfilippo therapies, including The Children’s Medical Research Foundation, Inc. (USA), Team Sanfilippo (USA), Fondation Sanfilippo (Switzerland), Stop Sanfilippo (Spain), Ben’s Dream: The Sanfilippo Research Foundation (USA), and the Sanfilippo Children’s Research Foundation (Canada). The collaboration has helped focus parents and caregivers on a leading therapy with broad potential to provide long-term benefits to children with Sanfilippo Syndrome.

read more here…. http://news.yahoo.com/abeona-therapeutics-receives-u-orphan-drug-designations-treatment-130000138.html
 

Just this week, the FDA grants Abeona Therapeutics’ two gene therapies for Sanfilippo Syndrome Types A and B, orphan drug designation.  No gene therapy has ever been approved for sale in the United States. In Europe, the EMA (European Medicines Agency), has given regulatory approval to UniQure, to sell its gene therapy, Glybera, for the treatment of the rare disease, Lipoprotein Lipase Deficiency (LPLD.  To read momre ……. http://orphandruganaut.wordpress.com/2014/05/01/sanfilippo-syndrome-fda-orphan-designations-for-gene-therapy/   Thank you for the continued support  donations to bring the trial forward for the children and families!!

On Wednesday March 12, 2104 in Bethesda, MD. We joined the researchers & doctors from Nationwide Children’s Hospital, Abeona Therapeutics, and other Sanfilippo Parent founded organizations and families for a key step in moving the program forward. The RAC submission to the NIH was approved by a vote of 17 -0.  This means the program moves one step closer to FDA approval for a clinical trial for Type B. This also paves the way for type A to move forward close behind. It was wonderful that so many families were able to meet together with all those on the research end as well. The public comments given by the Wilson’s, the Linton’s, the Seidman’s and Cara O’Neill were all very moving.  Thank you to all the families that attended in support!

The fundraising must continue as we move forward with the trials. So please help us to finish this project, as it the most promising for the children! We need this treatment now, so let’s march forward and finish it!!

Quartet of advocacy groups seed an Ohio startup’s gene therapy for rare Sanfilippo syndrome

December 16, 2013

A Cleveland biotech startup focused on a rare genetic disease provides an interesting example of the growth of alternative funding for life science companies.

Abeona Therapeutics’ just-announced $750,000 seed round, which will allow the startup to complete preclinical development of gene therapies for Sanfilippo syndrome, came not from angel or venture capital investors but from research and advocacy groups.  This is the start up needed to get trials going, but still need this amount or more to continue thru the end of trials.

Read more: http://medcitynews.com/2013/12/advocacy-groups-seed-gene-therapy-for-sanfilippo-syndrome/

 

 

 

Natural History Study In Mucopolysaccharidosis Type III

Mucopolysaccharidosis (MPS) type III, also known as Sanfilippo syndrome, is a group of four genetic diseases. We are conducting a natural history study in MPS III. We will enroll a total of 30 subjects in this study; 15 subjects with MPSIIIA and 15 subjects with MPSIIIB.

Principal Investigator:
Kevin Flanigan, MD

Co-investigators:
Kim McBride, MD
Haiyan Fu, PhD
Doug McCarty, PhD
Keith Yeates, PhD
Marco Corridore, MD

Mucopolysaccharidosis (MPS) type III, also known as Sanfilippo syndrome, is a group of four genetic diseases. These diseases result in a buildup of specific sugars in the brain and spinal cord. These diseases cause a decrease in mental function and the ability to move. They eventually result in death.

We are looking for patients for a study of the natural history of MPS type III, with the following goals:

  • To find how fast mental function and the ability to move decreases
  • To study the natural history and progress of the disease
  • To establish normal ranges of function in patients who will be potential subjects for a future treatment study using gene therapy
  • To find indicators of disease progression over one year. This will include changes in brain activity and in cerebrospinal fluid

 

Study Population

We will enroll 30 subjects total in this study. We will enroll 15 subjects with MPSIIIA and 15 subjects with MPSIIIB. All subjects must meet the following criteria:

  • Must be at least 2 years old
  • Must have genetic testing that confirms a diagnosis of MPSIIIA or MPSIIIB
  • Must have symptoms of the disease including mental decline
  • Must be able to participate in three clinical visits over the course of 1 year
  • Must not be taking any medication that prevents a spinal tap or use of anesthetics
  • Must be able to be safely sedated in the opinion of the clinical anesthesiologist

 

For more information regarding this study, please contact the Study Coordinator Krista Kunkler at 614-722-2238, or by email at Krista.Kunkler@nationwidechildrens.org.

This study will be an asset in moving forward with the Gene Therapy with Abeona !  Exciting times are here!!

 

Abeona Therapeutics Closes $750,000 in Seed Round to Develop

Therapies for Children Suffering from Rare Sanfilippo Diseases

 

It’s been an exciting few months for Abeona. We successfully closed our $750,000
seed round financing in December 2013 to help complete all pre-clinical studies
and regulatory submissions necessary to achieve active Investigational New Drug
(IND) applications with the FDA. We anticipate these studies will be completed
in early 2014 and anticipate enrolling patients in Phase I/II trials for both of
the IIIA and IIIB programs in 2014. Keeping on track with our development
timelines, the clinical team has already submitted the necessary paperwork with
the NIH Recombinant DNA Advisory Committee for review in preparation of our IND
submission. We kicked off our Series A fundraising campaign at the JP Morgan
conference, held annually every January in SanFrancisco, in order to raise funds
for both IIIA and IIIB clinical trials. Over the next few months, we look
forward to providing everyone with updates on the regulatory milestones, drug
manufacturing and clinical trial progress.

We (the parent organized foundations) will be needing to  continue  raising funds as the gene therapy trials move forward in patients, so please, this is not an end to the needed funds.  These trials will need additional funding as we follow the patients during the trial. So any fund raisers or donations are still greatly needed!!

 

January 20, 2014 – Villanova Teaming Up to Raise Awareness for Sanfilippo Syndrome at Jan. 20 Men’s Basketball Game

@ Wells Fargo Center

Villanova, PA

Press Release > http://www1.villanova.edu/villanova/media/pressreleases/2014/0110-1.html

To purchase tickets  > http://www.villanova.com/tickets/m-baskbl-tickets.html

Villanova versus Creighton will be “Sanfilippo Syndrome Awareness Night,” with several planned activities aimed at raising awareness for the rare disorder
 

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.

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

Natural History Study of Patients with MPS IIIB

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Natural History Study of Patients With Mucopolysaccharidosis Type III (MPS IIIB, Sanfilippo Syndrome Type B)

The purpose of this study is to evaluate the natural course of disease progression in Mucopolysaccharidosis Type III (MPS IIIB) patients who are untreated to identify potential surrogate endpoints that may be utilized in future treatment trials of MPS IIIB using predefined assessments including standardized clinical, biochemical, neurocognitive, developmental, and imaging measures.

For more information, click here.

Charities Unite To Fund Research

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Charities Unite to Fund Research into Reversing Brain Damage Caused By Sanfilippo Syndrome

New Study Will Focus on Sanfilippo Syndrome but Findings May Benefit Other Lysosomal Storage Disorders with Similar Pathways

DANA POINT, CA – January 23, 2012 – Rare Disease affects 350 million people worldwide, consisting of 7,000+ identified diseases and disorders. Currently less than 5% of all rare diseases have any type of therapy or treatment, and much of the early stage research is frequently seed-funded by parent advocates, advocacy organizations and non-profit groups.

In an important new trend in rare disease research, rare disease advocates (sometimes representing different rare diseases), collaborate, and pool their resources to fund promising early research. Led by the Team Sanfilippo Foundation, a group of worldwide charities has announced a $145,000 AUD grant to Dr. Kim Hemsley and Professor John Hopwood in Adelaide, Australia to study the fundamental disease processes involved in the pathology of MPS III Sanfilippo Syndrome.

“The ability to treat symptomatic, older patients is crucial not only for patients currently living with neurodegenerative disorders like Sanfilippo Syndrome but also for future patients that will inevitably go undiagnosed until they show symptoms,” said Kathleen Buckley, President of the Team Sanfilippo Foundation. “Given the rarity of lysosomal storage diseases, global collaboration is required to obtain critical mass in our collective battle.”

Sanfilippo Syndrome is a rare and progressive neurodegenerative disease affecting 1 in 70,000 births. It is caused by a genetic defect resulting in a dysfunction of one of four crucial enzymes. The absence of any of these missing enzymes results in an accumulation of heparan sulfate. The disease primarily affects the brain and central nervous system. Children develop normally for the first couple years of life and then suffer progressive loss of skills including the ability to talk, walk, eat and even eventually breathe. Affected children typically die as teenagers.

“Collaboration is critical and necessary for the rare disease community on all fronts and forward thinking organizations that understand this will move the needle much more quickly for their specific diseases,” Nicole Boice, Founder of the R.A.R.E Project. “The Sanfilippo community is making strides on important research that will ultimately help find treatments and cures. They are a model for other rare disease organizations to follow.”

There is hope that the current treatments in human clinical trials, enzyme replacement and gene therapy, will halt the progression of Sanfilippo Syndrome but are not expected to fully recover lost cognitive ability. While a missing enzyme and resultant build-up of waste materials are implicated as the root cause of the disease, incomplete knowledge exists as to the precise damage mechanisms at play in the pathology of the disease. Understanding these processes is important to improve the life of patients whose treatment has begun after they show symptoms. As newborns are not screened for the disease, most patients are not identified until symptoms present.

“This effort will use the latest science to study the real-time progression of the disease in a mouse model, enabling an understanding of what goes wrong and why,” added Buckley. “The ultimate goal is that this new understanding will lead to more effective treatments and a better understanding of what, if any, of the damage might be reversed.”

While this study will focus on Sanfilippo Syndrome, the findings of the study could benefit those suffering from similar lysosomal storage disorders with similar pathways such as Hunter Syndrome, Hurler Syndrome and Tay-Sachs.

For more information regarding ongoing clinical trials in Sanfilippo Syndrome, see:

Sanfilippo Syndrome Type A

Sanfilippo Syndrome Type B

Inquiries regarding this effort may be made to teamsanfilippo@gmail.com.

Funding for the project is provided by

This press release was generated in collaboration with and sponsored by the R.A.R.E Project, a 501c3 non-profit organization whose mission is to increase awareness, build a connected community and catalyze funding for early research, all in an effort to make life better for those living with rare disease. For more information, visit www.rareproject.org.