Absolutely in awe of our team and Pitt Power! On May 20, 2018, for the 5th straight year of UPenn’s Million Dollar Bike Ride, they rode their hearts out! WE MADE THE 50k match!!! We did It!!! Pitt Power never ceases to amaze me!!! Less than a month ago we were way behind in our numbers. I figured we’d make it to 20k and we’d be happy with that. But once again, I underestimated the power of a small group of individuals dedicated to making life better for their kids.
We are so grateful to all of you who rode, raised, supported and donated!!! This road, this road to treatments, is long and hard, and filled with blocks and hills and potholes, but today, TODAY the path was made a little smoother, and these successes— they are what keep us going!!! From the bottom of our hearts, THANK YOU!
What an incredibly beautiful moment for the Italian Pitt Hopkins families meeting Pope Francis! Thank you for sharing this Associazione Italiana Sindrome di Pitt Hopkins!
As we reflect upon 2017, our organization has seen fantastic growth and commitment, strengthening both our organization and the entire Pitt Hopkins community.
Our researchers have made amazing strides in their efforts to find a cure for Pitt Hopkins syndrome. We have developed a PHRF Road to Treatment Plan, and are aggressively pursuing treatment approaches in the areas of: Gene Therapy, Ion Channel, NMDA Receptors, M4 Receptor, HDACi, Up-regulating Protein, Metabolic/Mitochondrial Dysfunction, and Symptomatic treatments. Our extraordinary researchers are located in universities and private companies across the US and the world, including University of North Carolina at Chapel Hill, University of Texas Southwestern, Vanderbilt University, Icagen Inc., Jackson Labs, University of California Los Angeles, University of Chile, Healx, Bates College, Drexel University, Johns Hopkins University, and Tallinn University of Technology, Estonia.
This has been our highest fundraising year in our entire existence, raising over $500,000. Since our beginning in 2012, we had never thought we could raise a half a million dollars in one year. But yet our small but mighty foundation did.
An incredibly heartwarming change we have seen has been a shift in the amount of Pitt Hopkins families who are embracing fundraising, many for the first time, and so enthusiastically. It is tremedously motivating and encouraging for our Board of Directors to go from the only fundraisers, with a few exceptions, to having so many families also feel like they want to help by fundraising for a cure, for the sake of their own child. And we are so heartened by this effort from the families. This is building our Pitt Hopkins community like we could have never dreamed.
Looking to 2018
We are ever hopeful for 2018. It holds so much promise. For the future of our kids, so that they may see a day when they can achieve to their incredible potential, and finally have their bodies show us what they what they know—which is a great deal. They deserve this chance. And so we will keep battling on.
We don’t just hope for a miracle, we fight for one.
Craig Thomas and Carter Bays who created How I met Your Mother at the original HIMYM Bar in NYC with the winners of their Charity Buzz Auction, Rafael and Eunice.
Craig and Carter have always been staunch supporters of the Pitt Hopkins Research Foundation!
Please visit additional Charity Buzz Pitt Hopkins Research Foundation Auctions!
Sarah Huffman was a very special and inspiring young lady and will forever hold a treasured place in our hearts. The Pitt Hopkins Research Foundation is dedicated to making a difference in the lives of individuals with Pitt Hopkins. Annah Moore, a Vanderbilt University Graduate Student, is a part of the Sweat lab that was the first lab we ever funded. We are thrilled to announce that we have named a grant to Annah in Sarah’s honor – “The Sarah Huffman Award for Promising Young Researchers.”
Title:
Novel Therapeutics for Pitt Hopkins Syndrome, Annah Moore, Graduate Student, Pharmacology Department Vanderbilt University
Under the Mentorship of:
Dr. David Sweatt, Chairman, Department of Pharmacology and Dr. Colleen Niswender, Research Associate Professor of Pharmacology
Summary
Annah Moore’s project is focused on the discovery of small molecules designed by the Vanderbilt Center for Neuroscience Drug Discovery as potential therapeutics for Pitt Hopkins Syndrome (PTHS). Preliminary experiments have shown cognitive enhancing properties in Pitt Hopkins model mice after treatment with a drug that acts at the M4 muscarinic acetylcholine receptor. Annah will test this compound in additional mouse models for PTHS and will continue to investigate candidate drugs. She has also documented abnormal breathing in a PTHS mouse line, and plans to further characterize this trait. Annah has also recently been accepted into the Vanderbilt Program in Molecular Medicine, which will give her the opportunity to work with a clinical mentor and meet patients with neurodevelopmental disorders.
“I think that right now there seems to be a really big push into research on rare diseases. All the rare diseases are collectively getting together and saying, “Hey, we’re here!” – combined together they make one big common type of genetic disease category. I think this is the day and age of rare diseases.” ~Theresa Pauca
Interview by: Whitney Smith, Director of Business Development, Collaborative Drug Discovery, June 2017:
This interview focuses on Theresa’s involvement with the Foundation and the work that we are doing to support research into Pitt Hopkins syndrome:
We’re thrilled to announce a new partnership that will bring our resources in front of The Mighty‘s wide-reaching readership. We will now have our own growing homepage on The Mighty and appear on many stories on the site.
The Mighty is a story-based health community focused on improving the lives of people facing disease, disorder, mental illness and disability. More than half of Americans are facing serious health conditions or medical issues. They want more than information. They want to be inspired. The Mighty publishes real stories about real people facing real challenges.
Here’s an example of the kind of stories on The Mighty: What Does It Mean to Be ‘Rare’? You Told Us.
9 Oscar-Nominated Films That Got Disease and Disability (Mostly) Right
To the Person Who Called Me ‘the World’s Ugliest Woman’ in a Viral Video
6 Things to Remember as a Patient in the Undiagnosed Diseases Program
8 Things I Wish I Knew When My Child Was Diagnosed With a Rare Disorder]
We’re dedicated to helping people with Pitt Hopkins Syndrome in their lives. With this partnership, we’ll be able to help even more people.
We encourage you to submit a story to The Mighty and make your voice heard.
2016 has been a tremendous year for the Pitt Hopkins Research Foundation. We are now supporting 7 incredible research projects. When we started, just 4 years ago, there was virtually no laboratory research being done on this exceedingly rare disorder. This growth means more scientists are focusing on Pitt Hopkins; more labs are working together and sharing knowledge, ideas, and resources; and we are spurring a range of approaches to developing treatments and a cure for Pitt Hopkins. In short, it means we have more scientific momentum than ever towards what we all want—to change the lives of those who live every moment of every day with the debilitating symptoms of Pitt Hopkins.
Here are a few specifics on progress we have made this year in several key areas:
1. Gene Therapy
In the history books of science, 2016 will certainly be remembered as the year the hope and promise of gene therapy became a reality with successful trials in Batten’s Disease, Spinal Muscular Atrophy (SMA) and other rare diseases. Indeed, the SMA trial was so successful, it had to be discontinued as it was no longer ethical to continue giving placebo. The drug, Spinraza, was approved by the FDA just before Christmas.
The PHRF is wholeheartedly committed to staying abreast of the incredible progress in this arena. We were proud and grateful to fund our first gene therapy grant to Dr. Steven Gray at the University of North Carolina, Chapel Hill this year, the same Dr. who made the cutting edge breakthroughs in Batten’s disease possible.
2. Reversal
Reversal projects target the underlying cause of Pitt Hopkins and have the greatest likelihood of having a profound impact on symptoms. Our pioneer researcher, Dr. David Sweatt, left the University of Alabama Birmingham (UAB) this summer to head the prestigious pharmacology department at Vanderbilt University. Likewise, Andrew Kennedy, the primary post doc in the Sweatt Lab studying Pitt Hopkins, has moved on to start his own lab, dedicated primarily to Pitt Hopkins, at Bates College. This team has found a drug therapy that reverses the symptoms of Pitt Hopkins in mice— and now they are spreading this important work to these stellar new labs across the country.
Read more about their work in this scientific article published, August 2016, in Cell.
In 2017, we plan to test more compounds with similar mechanisms to see if other, more easily administered, drugs might offer a similar effect and begin the process of moving towards clinical trials.
3. Treatment
Treatment projects seek to improve the quality of life for those with Pitt Hopkins by addressing one or more symptoms. Last year the PHRF supported two studies at top labs (the Powell Lab at University of Texas Southwestern and the Katz Lab at Case Western University) looking at epilepsy and breathing issues. While the mice did not show breathing issues, they did show reduced seizure threshold. This epilepsy study, out of the Powell Lab also revealed an important biomarker we are readying to explore in 2017. Biomarkers are essential for successful clinical trials, and much of our work in 2017 will be devoted to establishing effective biomarkers.
The Katz Lab at Case Western also studies breathing issues in Rett Syndrome mice, and they have brought a drug called Ketamine to trial this year in Rett Syndrome. This may be a possible target drug for our children as well. It’s too early for results on these trials, but we will share news as soon as we get them.
4. New mouse models
Dr. Ben Philpot at UNC successfully created a third Pitt Hopkins mouse model — known as a “knock in”. This mouse will help determine effective drug targets that affect TCF4 expression levels, as well as be able to alter TCF4 activity at different points in development—an important step to ascertain whether treatments will be beneficial at different stages of development. This novel binary “reporter-reinstatement” mouse will not only allow for a stream-lined and genetically precise approach to drug discovery for PTHS, but also will allow us to determine the most efficacious time in which to reinstate TCF4 function to alleviate the pathophysiologies associated with PTHS.
5. Clinics
The two dedicated Pitt Hopkins Clinics, one at UCSF in San Francisco and one at UT Southwestern in Dallas, continue to grow their patient population and share treatment protocols which may benefit our children. These clinics and study sites will also be essential in helping develop a comprehensive natural history of Pitt Hopkins, a must for moving forward with clinical trials.
6. Basic science
To inform all our approaches for treating and hopefully curing Pitt Hopkins Syndrome, we must continue expanding our understanding of the neurobiology behind PTHS and the mutated Tcf4 gene that causes it. Our funded labs are doing exactly this and have made several discoveries, including the finding of dysregulated glutamate receptors. This led us to convince our Dallas clinic to try Amantadine, an already FDA approved NMDA receptor antagonist on some patients, and we are seeing some positive results, including increased focus and reduced hyperactivity. We hope to publish a paper on this with Dr. Sailaja Golla from the Dallas Clinic this year.
Dr. Tonis Timmusk at the Talinn Institute of Technology in Estonia continues to investigate increasing the amount and/or activity of the functional TCF4 protein produced from the healthy allele. We believe that this project could lead to the discovery of novel possibilities for increasing the activity of TCF4 in nerve cells that could be useful to develop treatments for therapeutic intervention of Pitt Hopkins syndrome.
Dr. Brady Maher, from the Lieber Institute also published his work, funded by the PHRF, in March of this year, an explosive report highlighting the important role of dysregulated calcium and potassium channels in Pitt Hopkins. This work offers important insight into drug targets we are pursuing in 2017.
Read more about Dr. Maher’s work here.
7. Family Support
The 2nd Science and Family Conference was held in November in Dallas, Tx. More than 200 people from around the world joined together to hear from our scientists and clinics and to meet other members of our global Pitt Hopkins Family. We laughed, we cried, we cried some more, and we are already busy planning the next one, tentatively set for summer 2018.
8. AAC
We often hear from parents that one of the hardest parts of Pitt Hopkins is the lack of communication, particularly when our kids are suffering. This year we continued our commitment to educating families about Augmentative Alternative Communication and held our second AAC conference at the Science and Family Conference.
9. Coriell Cell Bank
We grew and expanded the Coriell Cell Bank for Pitt Hopkins skin fibroblasts and plasma so that researchers all over the world will have easier access to skin and blood cells for research. More than 20 families participated in the blood draw at our annual conference. This important project is ongoing — please email Nahid Turan nturan@coriell.org if you are interested in starting the donation process.
10. Registry
We now have nearly 250 families in the global Pitt Hopkins Registry to gather information and help advance research more efficiently and faster. If you haven’t registered yet, you can do so here.
11. Mitochondrial assessment
Further pursuing the evidence of mitochondrial defects in our children, Dr. Michael Goldenthal at Drexel University and Dr. Richard Frye at the University of Arkansas launched a buccal swab collection. More than 20 families at the conference participated in this study aimed at revealing common mitochondrial defects in our children that may be able to serve as biomarkers in future clinical trials. This study is ongoing and you can still participate by e-mailing Michael.Goldenthal@DrexelMed.edu.
More families than ever were involved in making this the best year yet at the PHRF! We need your help–please contact us at phrf-fundraising@pitthopkins.org today!
HERE’S TO A 2017 FULL OF HOPE AND DISCOVERY!
This year, The PHRF is deeply moved to award the “Ann D. Bornstein Gene Therapy Grant,” in honor of Ann Bornstein, aunt of PHRF president, Audrey Davidow Lapidus, and sister of PHRF board member Jeffrey Davidow, who passed unexpectedly earlier this year. The Bornstein family has been extremely generous to the Foundation over the years and without them, so much of our research would not be where it is today. When she passed, her family asked that donations be made to the Pitt Hopkins Research Foundation. The outpouring of love and support for this special woman was overwhelming. And a generous amount was raised in her memory.
So this year, in honor of Ann and her family, we are awarding a grant to Dr. Ben Philpot and Dr. Steven Gray at the University of North Carolina, Chapel Hill with the hope that the grief of her passing may in some way be countered by the promise they are creating for our families through Gene Therapy.
Grant summary
The laboratories of Dr. Ben Philpot and Dr. Steven Gray at the University of North Carolina at Chapel Hill are collaborating on a project to investigate the feasibility of a gene therapy approach for Pitt-Hopkins syndrome (PTHS). This collaborative study combines Dr. Philpot’s expertise in autism and neuroscience with Dr. Gray’s expertise in translational gene therapy for neurological disorders. The project will follow a platform gene transfer approach using AAV vectors taken by Dr. Gray to initiate a human Phase I trial for Giant Axonal Neuropathy. The approach uses an engineered virus, AAV, to carry a functional copy of the gene disrupted in PTHS into the body and distribute it across the nervous system. In this fashion, a single dose of this gene therapy could permanently restore the gene to cells across the nervous system, treating the disease at its source. This initial pilot study is meant to assess the potential of this as a treatment approach for PTHS, and identify any roadblocks that may exist.
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