Authors :
Presenting Author: Dylan Ritter, PhD – Dup15q Alliance
Jackie Vanderhoof, BA – Dup15q Alliance
Mike Porath, BA – Dup15q Alliance
Rationale:
The Dup15q Alliance is a patient advocacy group that empowers individuals living with Dup15q syndrome to reach their full potential by promoting advocacy, supporting families, and advancing breakthrough research and life-changing therapeutic treatments for those living with Dup15q. Dup15q syndrome is a rare neurodevelopmental disorder characterized by epilepsy, intellectual delay, and hypotonia. Currently, there are no treatments that address the underlying cause of Dup15q syndrome. While the Dup15q Alliance has traditionally supported scientific research efforts through academic seed grants, there remains an opportunity for the Dup15q Alliance to impact and accelerate therapeutic development. In developing a scientific roadmap, it became evident that the Dup15q Alliance was uniquely positioned to support the development of a disease-modifying therapeutic. Thus, the Dup15q Alliance has engaged in a mission to identify and fund biotechnology and pharmaceutical partners.Methods:
The Dup15q Alliance first developed a scientific roadmap, highlighting the key gaps that needed to be addressed before initiating clinical trials Dup15q Alliance. Next, the Alliance studied how other patient advocacy groups advanced therapeutics for their respective rare diseases. Lastly, the Alliance sought out pharmaceutical partners actively pursuing Dup15q therapeutics to assess the program’s data and trajectory for investment opportunity.Results:
Initial findings from other rare disease advocates determined that patient advocacy groups representing monogenic neurodevelopmental disorders have successfully engaged with pharmaceutical partners targeting a single gene with a precision genetic medicine. Our scientific roadmap suggested that an insufficient natural history dataset and the polygenic nature of Dup15q syndrome increased hesitancy for Dup15q therapeutic development. While Dup15q syndrome lacks a single causal gene, many research studies uncovered that UBE3A overexpression likely drives many phenotypes observed in Dup15q syndrome. With a prioritized genetic target, a subsequent landscape analysis identified biotechnology companies developing antisense oligonucleotides to reduce UBE3A levels in the brain. Following examination of data generated from each program, the Dup15q Alliance entered strategic partnerships to partially fund the development of two UBE3A antisense oligonucleotide programs. Conclusions:
The Dup15q Alliance has developed a scientific roadmap and formed strategic partnerships with biotechnology companies to advance the development of a disease-modifying therapeutic. In addition to financially supporting our current partners, the Dup15q Alliance is actively investing in the development of a longitudinal natural history study to encourage wider biopharmaceutical interest in Dup15q syndrome therapeutic development.
Funding:
This project was funded by the Dup15q Alliance through the generosity of donors.