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!!
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!
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!
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 !
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!
BioMarin Sanfilippo Syndrome Type B (MPS IIIB) Clinical Development Program
An Update for Patient Associations and Families
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
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 email@example.com. Alternatively, please email BioMarin Medical Information firstname.lastname@example.org
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
Enzyme replacement therapy
Hematopoietic stem cell transplantation
Small molecule(substrate reduction therapy, chaperones)
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.
“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.”
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!
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 email@example.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.
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 firstname.lastname@example.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
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!
Biomarin enrolls first patient with Sanfilippo B ….