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Tay-Sachs Gene Therapy (TSGT) Consortium:
A Milestone Update
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Tom Seyfried, Sophia Pesotchinsky, Miguel Sena-Esteves, Susan and Doug Martin at NTSAD's 2015 Imagine & Believe Benefit in Boston
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We have received a report from Miguel Sena-Esteves, PhD, for the project initiated at the University of Massachusetts Medical Center in October 2013, "Selection of a new AAVrh8 vector design and safety testing." Below are a few of
highlights of this report.
In January, 2015, we reported on the project's Milestone 2 achievement which was identifying a safe vector design for clinical translation. Mouse studies were then performed to demonstrate that this new vector could be as effective as the original vector. Establishing a sufficiently large colony to support efficacy studies took over five months. The results are that they observed a significant reduction in GM2 levels at a higher dose with the new vector, which is comparable to the reduction documented in GM2 mice injected with the original vector formulation. They also observed reduction in other areas of the central nervous system (CNS), however not as much as with the original formulation.
These preliminary therapeutic efficacy studies using the new and proven safe vectors in GM2 mice are encouraging. The next phase of research is also called the IND-enabling studies because these studies are planned to hopefully lead to an Investigational New Drug application (IND) to the FDA followed by clinical trials. These studies include animal studies in GM2 mice for toxicity and efficacy, and a final study in a large animal species to assess that the higher doses in the therapeutic range in GM2 mice, scaled for brain weight, are safe, and therefore safe for testing in patients.
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NTSAD Plans for Funding Research in 2016
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A letter recently was sent to our families from Blyth Lord (mom, founder of Courageous Parents Network and Vice President of NTSAD's board) and Brian Manning (dad and President of NTSAD's board). Here is an excerpt about NTSAD's plans to fund research in 2016:
- $160,000 will fund at least two grants as part of NTSAD's annual Request for Proposal (RFP) process. We just received 18 pre-applications that will be evaluated by members of our Scientific Advisory Committee. Scientists, senior and early stage career alike, count on these RFPs from patient groups, and are often drawn to researching our rare diseases as a result. We need to keep our diseases in front of them.
- $240,000 is committed to the Tay-Sachs Gene Therapy Consortium. Of this total, $130,000 will be directed to making the final payment to University of Massachusetts Medical Center for additional studies to optimize the new vector in the mouse model. The rest will be directed to the new IND-enabling studies (which have a total cost of $1 million). Specifically, we awarding a grant for GM2 mouse studies which are budgeted at $93,000, and the balance toward the regulatory consultant, Phil J. Cross and Associates, who will shepherd the scientists through all the regulatory requirements.We hope to commit more funds over the course of this next phase, as our fundraising efforts allow.
To date, NTSAD has funded $1.5 million of the total $2.0 million in private funding to the TSGT Consortium. This funding is possible thanks to gifts from family foundations, including the Cameron & Hayden Lord Foundation, the Mathew Forbes Romer Foundation, the former NTSAD New York Area chapter and its family funds, the Cure Tay-Sachs Foundation, Day of Hope events, and, of course, many individual NTSAD families and other donors.
To follow future news and updates, sign up for NTSAD's Research Reviews
here.
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Second Annual Million Dollar Bike Ride
Grant Recipient Announced |
NTSAD congratulates Marlene Jacobson, PhD, awardee of the 2015 Million Dollar Bike Ride grant made on behalf of Team NTSAD for her proposal entitled "Patient-Derived Phenotypic Assay to Discover Treatments for Tay-Sachs Disease."
Dr. Jacobson is Associate Professor in the Department of Pharmaceutical Sciences, Temple University School of Pharmacy and Associate Director of the Moulder Center for Drug Discovery Research. Dr. Jacobson's current research interests include identification of treatments for neuropathic lysosomal storage disorders and application of novel screening assay methodologies for drug discovery.
Specifically for this project funded by NTSAD and the Orphan Disease Center, Dr. Jacobson will use cells from Tay-Sachs patients to screen a collection of small molecules that could serve as treatment for this and other lysosomal storage disorders. Dr. Jacobson has developed a novel "disease in a dish" assay which will enable exploration of small molecules including a collection of known FDA-approved drugs in which a "hit" has the potential for rapid progression into clinical trials. The research will be performed in a fully integrated academic drug discovery center, The Moulder Center for Drug Discovery Research , composed of investigators with extensive experience in pre-clinical drug discovery and an established infrastructure to support high throughput screening, in vitro pharmacology, medicinal chemistry, and preclinical drug metabolism studies
"We are excited to receive this award and wish to extend
our gratitude to Team NTSAD for raising the funding to
support the award." - Dr. Marlene Jacobson
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| SAVE THE DATE for the 3rd Annual Million Dollar Bike Ride on Saturday, May 7, 2016! |
38th Annual Family Conference
April 7 - 10, 2016 in Orlando
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REGISTRATION IS NOW OPEN!
is a highlight of NTSAD's Family Service program with a goal to
empower, support, and connect our families affected by Tay-Sachs, Canvan, Sandhoff, and GM1.
New programs for 2016 include:
- Families Collaborating in Research session where information will be gathered from the experts - the families and affected individuals - about how the diseases affect them.
- Webcasting of the Research Update session for families around the world who are unable to attend in person. Other sessions will be recorded and shared later.
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Earlier this fall, NTSAD was lucky enough to have an intern from Boston University's Genetic Counseling program update the screening portion of the website including a new feature - an FAQ section. Lauren spent two days a week for seven weeks reading through, updating, revising and creating every page. Our thanks to Lauren for her dedication and our appreciation to her advisory team, Drs, Jodi Hoffman and Staci Kallish for their invaluable edits and input. The FAQs will debut in early January 2016. Stay tuned!
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NTSAD's 2015 Imagine & Believe benefit was a terrific success!
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NTSAD mom, Sherri, with
Brian Manning, NTSAD's President
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Over $80,000 was raised after friends, family and partners came together to show their support for families worldwide coping with our family of rare genetic diseases.
Thank you to everyone, from near and far, who supported the benefit. Read more and thanks to our sponsors
here.
Stay tuned for our 2016 date!
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In The News
A recent New York Times article, "Parents of Children with Rare Diseases Find Hope in For-Profit Companies", highlighted the determination of Karen Aiach, whose daughter, Orella has Sanfilippo syndrome, and who founded Lysogene based in Paris. Lysogene is funding GM1 gene therapy sponsored research at Auburn and U of Massachusetts Medical Center. Also mentioned is John Crowley, past NTSAD board president, who started a company in search of treatments for this two children affected by Pompe disease. Both Sanfilippo and Pompe are lysosomal storage diseases.
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An NTSAD dad, Ronald Re, has written a book that evolved in part from his experience caring for his daughter who had Tay-Sachs many years ago. He reconnected with NTSAD recently and shared the news of his book and his plans to donate a portion of sales to NTSAD.
If you'd like to learn more, his book can be ordered
through Amazon here.
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experience the NTSAD
winter annual fund appeal
a
year-end gift today.
help. empower. hope.
a PDF version can be downloaded here.
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Support NTSAD's mission with every purchase made on Amazon.
National Tay-Sachs & Allied Diseases as your charity of choice.
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Stay Connected & Keep Up with NTSAD Everyday!
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