The Down Syndrome Research and Treatment Foundation is dedicated to finding a treatment to improve cognition including learning, memory and speech for individuals with Down syndrome. Since our founding in 2004 we have become the leading private source of funding in the United States for Down syndrome cognition research. Read about our results.
Roche initiates new multi-national screening protocol clinical study for anticipated RG1662 Phase II clinical trial in individuals with Down syndrome
Roche, a leader in innovative research-focused healthcare and the world’s largest biotech company, has initiated a new multi-national pre-assessment clinical study to further evaluate eligibility for enrollment of adults and adolescents in an anticipated Phase II clinical trial for RG1662. With completion of the previous groundbreaking Phase I clinical trial with this new drug, this new trial includes a single day screening visit to identify potential participants with Down syndrome for a Phase II clinical trial with RG1662 to determine efficacy in improving learning, memory and language abilities.
This new trial, “A Screening Protocol to Assess Adults and Adolescents with Down Syndrome for Eligibility for Upcoming Study of RG1662 (Study BP27832),” will evaluate potential participants ages 18-30 at nine US clinical trial sites located in La Jolla, CA; Decatur, GA; Chicago, IL; Baltimore, MD; Boston, MA; Durham, NC; Dallas, TX; Salt Lake City, UT; and Madison, WI. The trial will evaluate potential participants ages 12-30 at 17 international clinical trials sites located in Argentina (3), Canada/Nova Scotia (1), Mexico (4), New Zealand (3), Singapore (1), Spain (3), and the United Kingdom (2).
Get information on US recruitment and participation here. Learn more about international recruitment and participation here. Find out more about all Roche clinical studies and trials in individuals with Down syndrome.
Announcing Our 2013-2014 Research Grant Awards
Over $9.6 million awarded to date
The entire DSRTF team is pleased and proud to announce our 2013-2014 Research Grant Awards. With the funding of these new grants, DSRTF has now provided over $9.6 million to advance Down syndrome cognition research. Recipients of this year's funding include researchers at Johns Hopkins University School of Medicine for their work with a network of institutions participating in the Down Syndrome Cognition Project; the University of California, San Diego; the University of Arizona; Stanford University; the VA Palo Alto Health Care System; and an international multidisciplinary research conference to take place in March 2014.
We're honored to support these exceptional investigators and their innovative research as they continue to take the field forward. DSRTF's Research Program and Grants have been instrumental thus far in addressing key strategic priorities on the research agenda and accelerating the advances that have led to the initiation of landmark new clinical trials. With this year's awards, we extend our substantial support of discovery, translational, and clinical research for new therapies to improve cognition for people with Down syndrome.
Dr. Michael Harpold, DSRTF's Chief Scientific Officer and Chair, Scientific Advisory Board, points out that DSRTF's support reaches beyond these direct awards. "The results made possible by DSRTF Research Grants have provided leverage for supported researchers to gain more than $10 million in additional research funding to date through the NIH and other sources." Without the generous financial support of our donors and supporters, these new advances, grants, and initiatives would not be possible. All of us at DSRTF join in expressing our gratitude for your commitment to delivering increased learning, memory, and speech for people with Ds. View the full list of awards.
Balance Therapeutics’ COMPOSE clinical study for BTD-001 - Ongoing Patient Enrollment
Balance Therapeutics is currently conducting a Phase Ib clinical trial at multiple sites in Australia to assess the safety and potential efficacy of a compound that could enhance cognitive function in people with Down syndrome age 13 to 35. The Compose study (Cognition and Memory in People with Down Syndrome) is evaluating the potential of a compound called BTD-001 to improve memory, language, and learning. BTD-001 is well understood and had been used over decades to treat a variety of conditions. The clinical study is based on original research at Stanford University which was supported by the Down Syndrome Research and Treatment Foundation. The National Institutes of Health has also provided funding grants to support additional development.
Learn more about this clinical study opportunity, including participation.
Research Advance: Cognitive Deficits of DS May Be Linked to Stem Cell Defects
DSRTF-Supported Research Offers New Insight into Rapid Aging in People with DS
The learning and physical disabilities conferred by Down syndrome may be due at least in part to defects in the body's stem cell regulation — including some defects which can be alleviated by reducing the expression of just one gene on the 21st chromosome.
Led by Michael Clarke, M.D., and Maddalena Adorno, Ph.D., researchers at the Stanford University School of Medicine have released new findings in the September 11 issue of Nature Medicine showing that nerve, and other, stem cells affected by Ds do not grow or renew themselves as well as unaffected cells, and that this dysfunction can be corrected by lowering the expression of one particular gene — designated Usp16 — to more normal levels.
The findings, funded in part by DSRTF, offer new insight into the question of why people with Ds appear to age more rapidly, developing by age 40 the brain pathology associated with Alzheimer’s disease. Having three copies of chromosome 21, and therefore the Usp16 gene, "accelerates the rate at which stem cells are used during early development, which likely exhausts stem cell pools and impairs tissue regeneration in adults with Down syndrome,” said Stanford’s Craig Garner, Ph.D., co-director of Stanford’s Center for Research and Treatment of Down Syndrome, co-author of the study, and a DSRTF grant recipient. “As a result, their brains age faster and are susceptible to early-onset neurodegenerative disorders.”
The researchers found that reducing Usp16 overexpression provides what Clarke called “unambiguous rescue” at the stem cell level, restoring the growth of adult stem cells in different tissues, including those in the brain. “This could represent a potential new therapeutic target,” according to Dr. Michael Harpold, DSRTF’s Chief Scientific Officer, “to ameliorate some of the effects of early-onset aging.” Learn more.
Research Advance: Experimental Drug Normalizes Cerebellar Growth, Improves Cognition in DS Mouse Model
DSRTF-Supported Researchers Open New Avenue for Investigating Potential Therapies
A major study describing a significant new potential therapeutic interventionto improve learning and memory in Down syndrome has been published in the September 4 issue of Science Translational Medicine.
DSRTF-supported researchers at Johns Hopkins University School of Medicine, led by Dr. Roger Reeves, professor of genetic medicine, showed that in a mouse model of Down syndrome, a single dose of an experimental drug on the day of birth not only normalized the growth of the cerebellum, but also normalized learning and memory in a specific cognitive test.
Dr. Roger Reeves of Johns Hopkins University School of Medicine
The drug, SAG 1.1, activates an important biochemical signaling pathway called the sonic hedgehog pathway (Shh), an important new therapeutic drug target. Additional research will be required to determine precisely how the drug works through this pathway to improve learning and memory; to discover an optimal drug based on this approach; and to understand the wider ramifications of any therapy, since the Shh pathway is involved in so many crucial physiological processes. The potential for therapeutic applications in humans is as yet unknown, given the complexity of the pathway and the potential for unintended consequences. Nor is this approach to improving cognition all-inclusive: “Down syndrome is very complex,” cautions Dr. Reeves, “and nobody thinks there's going to be a silver bullet that normalizes cognition. Multiple approaches will be needed."
Still, the positive results of this work are hugely encouraging: This exciting research represents a completely new avenue for investigating potential therapies, according to Dr. Michael Harpold, DSRTF’s Chief Scientific Officer. “We’re extremely pleased to have provided critical grant funding to make this research possible,” he says, “and DSRTF is continuing grant support to Dr. Reeves and Johns Hopkins to advance this potential therapeutic strategy." We are proud to have underwritten Dr. Reeves’ groundbreaking work since 2007. With DSRTF’s ongoing support of this research, we continue our commitment to advancing discovery and translational research to improve learning, memory, and speech for people with Down syndrome.
Elan Announces New Clinical Trial in Down Syndrome
First Patient Dosing Takes Place in Safety Study
Biotechnology company Elan Corporation, plc, has announced the initiation of a Phase 2A clinical trial of ELND005 (scyllo-inositol) in young adults, 18-45 years of age, with Down syndrome. ELND005 is a molecule that may hold the potential to improve cognition in Ds by reducing aggregation of beta-amyloid, which is a product of the amyloid precursor protein (APP) encoded by a gene on chromosome 21 — thus preventing the intraneuronal buildup of beta-amyloid plaques that most people with Ds develop by their 40s — and addressing a metabolic abnormality in Ds that correlates with the severity of cognitive dysfunction. The study now underway will primarily evaluate the safety and pharmokinetics of the molecule, and will include select cognitive and behavioural measures.
There are currently three clinical trial sites in the US: University of California, San Diego in La Jolla, CA; University of California, Irvine in Orange, CA; and Massachusetts General Hospital in Boston, MA. Learn more about this clinical study, including details on participation.
Sign up Now for DS-Connect: The Down Syndrome Registry
Connecting Families and Individuals with Ds to Researchers
As previously reported, DS-Connect: The Down Syndrome Registry debuted in early September 2013, and the number of registered participants is growing. This secure centralized information clearinghouse has been initially funded and launched by NIH, with the collaboration and support of the Down Syndrome Consortium. DS-Connect presents an important resource for communication among families, researchers, clinicians, and patient groups, and will be an essential tool in supporting new clinical studies and trials to benefit people with Ds.
To learn more about the registry, download DS-Connect’s informational flyer. Whether your loved one is a child or an adult with Ds, please consider registering — this is a resource that will serve and benefit us all, and an important way all families can contribute to and support needed research. Visit DS-Connect now!