When you set out to cure an ‘incurable’ genetic disorder, you need three things: a comprehensive, well thought out plan; a dedicated and passionate community; and sufficient, often substantial funding. With a grant from the Marnier Lapostolle Foundation of $5.8 million, the Foundation for Angelman Syndrome Therapeutics (FAST) is on its way to reaching this trifecta (read the press release here).
FAST was formed in order to take an active role in drug development for Angelman Syndrome (AS) and focus funding on translational research. While this sounds like an obvious plan for a research organization, most foundations are not set up in this manner. Most nonprofit disease foundations hold an annual fundraiser and once they have amassed their yearly or biennial funds, they put out a call to the scientific community to apply for grant funding, hoping what they choose is fruitful and yields positive, meaningful results. FAST bucked this organizational model and instead implemented an aggressive and internally driven research agenda that forever changed the landscape of AS research. FAST’s team of in-house experts continually assess every segment of the research continuum: identifying technologies, tools, targets, and models that will move us from the laboratory to the market as quickly, safely and efficiently as possible. “With the right vision, you can accelerate science,” says Allyson Berent, Chief Science Officer of FAST, adding “and be in the most advantageous position when the advancements and technologies become available to you.”
Because AS has been treated and cured in the mouse model, we know that Angelman Syndrome is a treatable, curable disorder. We know we can treat the multiple symptoms AS causes, including seizures and motor challenges. We know we can activate the normally silent, paternal UBE3A gene with compounds, antisense oligonucleotides (ASO) and/or artificial transcription factors (ATF). We know we can replace the missing or mutated maternal copy of the UBE3A gene and/or the maternal UBE3A protein using various delivery technologies. We know we need better animal models in order to move these groundbreaking advancements from the laboratory towards the clinic. We know we need better patient testing for meaningful, clinical outcome measures. We know we need to identify biomarkers for AS. FAST was faced with a difficult question, “Where exactly should we focus our efforts?” Due to what we do know, our answer was simple; everywhere.
“We need to explore every possible strategy, assessing which options offer the highest chance of efficacy and we need to ensure that every individual with AS will benefit, regardless of age,” says Paula Evans, Chairperson of FAST. “There is a very clear process to developing therapeutic interventions; there must be a comprehensive plan that includes validating the intervention from concept, to efficacy, to safety,” added Allyson Berent. “If we want to bring therapeutics to market, we cannot simply fund projects; we must thoughtfully plan for and fund the entire preclinical process.”
Research and technologies, in the area of neurological disorders, are some of the most rapidly advancing fields in science today. The progress towards treatments and cures for disorders of the central nervous system, in the past two years alone, has been breathtaking. “We need to be thinking about, and planning for, two years from now, not today,” says Meagan Cross, Chairperson of FAST Australia. “If we only think about today, we will be one of the last cognitive disorders to be cured, and we have no intention of being last.”
This extraordinary grant from the Marnier Lapostolle Foundation allows us to fully explore every promising strategy and technology available to us today. Every single penny of this grant will be spent on our research agenda. FAST will continue, and also expand, our drug discovery and drug validation program and will utilize the Marnier Lapostolle Foundation’s gift to accelerate our novel animal characterization and gene therapy programs. FAST’s goal is to have AS specific gene therapies ready for clinical trial within 24 months. Beginning September 1, 2016 to August 31, 2017, FAST will complete development of five gene therapy strategies and robust characterization of two novel animal models. The 12 months following will be spent conducting preclinical trials of the most promising options and partnering with pharmaceutical companies to bring those options to clinical trial. FAST is currently working with numerous pharmaceutical and biotechnology companies that are interested in, or actively developing, therapeutics for AS. FAST’s current research agenda includes:
• Drug Discovery;
• Drug Validation;
• Novel Rat Model of AS;
• Novel Pig Model of AS;
• Activation of the paternal allele using Artificial Transcription Factors and Antisense Oligonucleotides; and
• Replacement of UBE3A using Adeno Associated Virus (AAV), Hematapoeitic Stem Cells and STUB technologies.
You can read more about FAST’s unique and comprehensive Roadmap to a Cure here.. FAST is the largest non-governmental funder of Angelman Syndrome research and the only organization in the world that has a detailed plan and clear path to cure Angelman Syndrome. Thanks to the $5.8 million grant from the Marnier Lapostolle Foundation, we now have the funds to accelerate this program.
FAST feels strongly that we are in the final stages of bringing effective therapeutics to the clinic. We would not be at this point today if it were not for our unbelievably supportive community. The majority of research funds spent on AS to date, have come largely from our AS parents and those who support us. Because AS is a rare disorder, it falls to us to de-risk the initial investment from the pharmaceutical and biotechnology industries. FAST is investing almost $10 million in AS research over the next two years, thanks in large part to the Marnier Lapostolle Foundation. However, additional funding is needed to cross the finish line and we know our community can help us now that we are so close. FAST is setting a $2 million community goal for this year. If we can meet this $2 million goal, we have an excellent chance of getting those funds matched.
As diverse as our Angelman community is, we are all united in one goal; a better future for our children. FAST is committed to bringing life-changing treatments to clinical trial within two years, but we need your help. We are asking everyone to join us in the Cure Angelman Now initiative because together, we CAN do this. Our time is now and every single dollar counts in getting us closer to our goal. Create your own personalized FAST fundraising page by clicking link below and be part of this thrilling adventure in the Cure Angelman Now initiative. Let your family, friends and colleagues know how close we are to curing Angelman Syndrome and with their help, we will make our greatest dream a reality.
Now, let’s start fundraising and go change the world! We CAN do this!