Raise for Research
May 6-10, 2024
Fueling research. Accelerating impact.
100% of your donation supports vital research that will provide a brighter future for those affected by Phelan-McDermid syndrome.
JOIN THE CURESHANK MOVEMENT
CureSHANK is accelerating critical treatment options for our loved ones living with Phelan-McDermid syndrome (PMS), a devastating neurodevelopmental disorder, and other disorders of the SHANK3 gene.
Can you help us raise $122,000?
Help us reach our daily match goal!
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LEARN HOW CURESHANK IS ACCELERATING Phelan-McDermid Syndrome Drug Development!
In April 2024, CureSHANK hosted the first Phelan-McDermid Syndrome Drug Development Symposium, a gathering of academic scientists, biotech companies, investors, and PMS parents.
Some of the nearly 100 participants shared their thoughts on CureSHANK’s role in accelerating treatments for PMS.
MEET OUR MATCHING DONORS
The first $5,000 collected daily will be DOUBLED through the generous support of the following donors.
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Jaguar Gene Therapy broke new ground in January 2024, when they announced they had received the green light to begin clinical trials in 2024-25 for JAG-201, a gene therapy for Phelan-McDermid syndrome! CureSHANK has been collaborating with Jaguar throughout this process, and we are so thankful that they have prioritized the PMS patient community! Their presentation at CureSHANK’s April 2024 PMS Drug Development Symposium was one of the event’s highlights.
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Dannie and David Lees have been staunch supporters of CureSHANK since its inception. They have born witness to the tragic comparison of life trajectories between two boys born within 24 hours of each other in 2010: their first grandson and Darus, the son of Abby Lievense (CureSHANK treasurer & co-founder), who lives with PMS. Both physicians, the Lees firmly understand that scientific breakthroughs are the only path toward improved quality of life for Darus and all those living with PMS.
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Sumiyo and Dieter Ender know well the devastation of Phelan-McDermid syndrome. Their first-grandchild, Charles (now 25) has been robbed of skills and a future due to his severe SHANK3-related epilepsy. The Enders are highly supportive of their daughter, Charles's mother and CureSHANK President and Co-founder Geraldine Bliss, who has dedicated her life to the promise to help Charles and all those living with PMS attain a better quality of life.
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FRIENDS of CureSHANK: These anonymous donors are highly familiar with the devastation of Phelan-McDermid syndrome, and trust that our team at CureSHANK is taking PMS drug development to the next level!
JACKSON’S TRIVIA NIGHT: Jackson’s Trivia Night is held annually in honor of Jackson Goldsmith and ALL individuals affected by PMS, to help support Jackson and to raise funds for organizations that advocate for the PMS Community. -
Neuren Pharmaceuticals is a pioneer paving the way for Phelan-McDermid syndrome treatments. It recently completed the phase 2 trial of its NNZ-2591, with significant improvements documented, and is preparing for Phase 3. CureSHANK has worked with Neuren throughout this process, and there was great interest among researchers in their presentation at CureSHANK’s April 2024 PMS Drug Development Symposium.
ACCELERATING IMPACT: AN UPDATE ON PROGRESS
Through the generous support of our donors, we have made much progress! We need as many companies and researchers as possible working on multiple avenues of treatment for patients of different ages experiencing a variety of symptoms.
Last year, we raised funds to SUPPORT ACADEMIC SCIENTISTS!
Over the past year, we followed through on those projects:
SHANK3-Related Epilepsy
Within less than a year after Raise for Research 2023, CureSHANK convened a meeting of experts on SHANK3-related epilepsy to identify crucial gaps in the existing research; issued a request for applications; and awarded grants to the top two applicants: Jordan Farrell, PhD (Harvard Medical School) and Nick Frost, PhD (University of Utah School of Medicine).
SHANK3-related Developmental Regression
Within months after Raise for Research 2023, grant support from CureSHANK to Shang-Nan Qiao, PhD (Yale School of Medicine) is enabling her to explore neuroinflammation and its possible role in neuropsychiatric regression in PMS.
Measuring Sleep
Thanks to CureSHANK’s sponsorship, several PMS patients are participating in an Autism Science Foundation study to validate a novel device for measuring sleep at home in patients with severe autism. Disrupted sleep is a major challenge but notoriously difficult to measure in patient populations like PMS: this device would be a game-changer.
CureSHANK has also been busy with other projects!
BRINGING TOGETHER OUR STAKEHOLDERS:
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In April 2024, CureSHANK brought together academic researchers, biotech companies, investors, and PMS parents at a symposium in Boston aimed at accelerating drug development. With twenty companies and several top research institutions represented, it was a very successful event. We aim to make PMSDDS a regular event.
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In early 2024, CureSHANK hosted two community webinars: one with Jaguar Gene Therapy, and one with Neuren Pharmaceuticals. Each event provided an opportunity for the companies to speak directly to the PMS community, and for the community to ask questions directly to the companies, about their respective recently-announced promising clinical trial developments.
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This pre-competitive consortium of companies working on or interested in PMS treatments is working together on projects of mutual benefit to develop better measurements of treatment efficacy. CureSHANK has completed the lengthy legal aspects, and with several member companies signed on is proceeding with its first project.
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This updated resource on CureSHANK’s website overlays parent comments from the 2022 EL-PFDD Meeting with the FDA (recorded in the Voice of the Patient Report) on top of CureSHANK’s PMS Conceptual Model. This helps to keep PMS drug development focused on patients and families, by matching real caregiver experiences with the PMS characteristics described in the academic literature.
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To make the information compiled from the EL-PFDD Meeting accessible to all researchers, CureSHANK adapted the Voice of the Patient report into a paper entitled “Caregiver perspective on patient-focused drug development for Phelan-McDermid syndrome,” published in March 2024 in Orphanet Journal of Rare Diseases.
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CureSHANK has recruited several PMS patients to donate biosamples that will be available to scientists developing biomarkers for PMS as a part of CombinedBRAIN’s Biorepository project.
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Through CureSHANK’s membership in CombinedBRAIN, PMS is among the disorders for which the ORCA Communication Measure is currently being validated. The ORCA is designed to more precisely measure communication ability in individuals with significant impairments.
CREATING RESOURCES FOR ACADEMIC SCIENTISTS AND COMPANIES
CURESHANK
CURESHANK
DONOR MATCH UP TO $25,000!
Generous donors have pledged to match up to $5,000
raised on EACH of the five days, May 6-10, 2024.
Our mission is urgent: the more funds we can raise, the more speedily and efficiently we can bridge the translational research gap to achieve cures and treatments for our loved ones living every day with Phelan-McDermid syndrome!
CURESHANK
CURESHANK
What is Phelan-McDermid Syndrome (PMS)?
A highly debilitating neurodevelopmental disorder caused by deletions of or changes to the SHANK3 gene.
Individuals affected by this disease experience developmental delay, intellectual disability, delayed or absent speech, and autism. Common comorbid conditions include epilepsy, hypotonia, sleep disturbances, gastrointestinal problems, lymphedema, and psychiatric illness. The severity of symptoms is highly variable per individual, but virtually no one with this disorder can even come close to living independently. In some patients, comorbid conditions result in death. Currently, there are no treatments available for Phelan-McDermid syndrome. At CureSHANK, our mission is to bridge the gap to a cure by funding research that supports therapeutic options.
About CureSHANK
Our purpose is to accelerate the development of treatments for Phelan-McDermid syndrome and SHANK-related disorders.
The founders of CureSHANK are parents of children living with Phelan-McDermid syndrome, who believe that a better life for our children is within reach. CureSHANK’s mission is to accelerate the development of cures and treatments by funding projects that bridge the translational research gap between basic SHANK3 science and FDA-approved clinical trials. We work with urgency and believe collaboration is critical to the success of our mission. We are committed to scientific excellence and to transparency in how we invest in our projects.
Our approach is to identify and fund projects that overcome critical barriers to successful drug development and to coordinate scientific efforts to improve efficiency and speed in the field.
The realities of pms
Meet Three Brave Families That Are Affected By This Debilitating Neurodegenerative Genetic Condition.