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NTSAD Research Initiative
What is the NTSAD Research Initiative?
With its inception in 1957, the founding families envisioned that NTSAD was to be an umbrella organization that would include not only the more prominent known disorders at the time: Tay-Sachs, a lysosomal storage disorder and Canavan, a leukodystrophy, but also related conditions posing similar clinical symptoms as well as shared familial, emotional and scientific problems. Fifty years ago, many of these "allied diseases" were not yet identified or named, but today the "allied diseases" represent a family of more than 50 genetic diseases including leukodystrophies and other lysosomal storage diseases affecting the central nervous system.
By supporting scientific research, these families wanted to find the answers to these questions:
- What causes these diseases?
- How do these diseases progress?
- Can we stop the progression?
- Can we treat the diseases? Can we cure these diseases?
- Can we prevent the diseases?
NTSAD's support of the scientific process eventually led to some of the most exciting discoveries and firsts in genetics, including finding some of the genetic causes of disease and the resultant understanding of prevention through carrier testing, community screenings, and prenatal diagnosis. But significant questions about disease progression, treatment and cure remain.
NTSAD's Research Initiative strives to:
- clearly communicate disease-related research developments
- provide networking for basic and clinical scientists focused on our disorders
and funding organizations
- galvanize the lysosomal storage and leukodystrophy diseases community.
NTSAD seeks to define the relevant research by understanding and communicating research already underway, by promoting the viability of current research, and by securing public and private sources of research funding.
The Research Initiative Committee is a network of committed and passionate people directly affected by lysosomal storage and leukodystrophy diseases dedicated to raising the funds necessary to vigorously pursue treatments and ultimately cure these devastating diseases.
NTSAD established the Scientific Advisory Research Evaluation Subcommittee to liaison to the scientific community in order to assess current research developments and advise the Research Initiative Committee on the leading scientific efforts. Together these committees endeavor to unite and motivate scientific and philanthropic leaders from around the world.
NTSAD solicits proposals for innovative research projects that should generate strong preliminary data for major funding in the area of genetic neurodegenerative disorders and, in partnership with other organizations or as part of a larger consortium, the Research Initiative funds research that can lead to novel treatments for lysosomal or leukodystrophy diseases impacting the central nervous system.
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NTSAD Research Grants 2012
Usually NTSAD announces its annual Request for Proposal (RFP) process in the fall/winter. However, this year is exceptional. The Tay-Sachs Gene Therapy (TSGT) Consortium, which was organized in 2007, has a plan to begin human clinical trials in approximately one year. NTSAD has made multiple grants for gene therapy dating back to the beginning of the Research Initiative in 2002. Our commitment is to help drive the most promising research into human clinical trials. Therefore, we feel committed to focusing our research funding for this coming year to help reach this significant milestone.
While the TSGT Consortium has significant NIH support, the pre-clinical research budget is not fully covered in the NIH grant. We are currently seeking funding partners for the clinical trial, but in the meantime, we are committing our 2012 research funding to the TSGT Consortium in lieu of the RFP process. The grants will fund animal studies, financial support for the animal disease model, natural history studies, and project management. These grants are subject to the same scientific review and reporting requirements as used in making all our grants. This decision is being made in consultation with our Scientific Advisory Committee.
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NTSAD Research Grants 2011
In April 2011, the NTSAD Research Initiative Committee announced 3 new grants.. The grants are as follows:
Florian Eichler, MD (Massachusetts General Hospital)
Clinical Outcome Measures for a Gene Therapy Trial in Infantile and Juvenile GM2
(Tay-Sachs Gene Therapy Consortium)
- Description: This proposal will prospectively describe the natural history and validate severity scores in childhood GM2 gangliosidoses It will also assist in protocol development and trial design for gene therapy treatment.
- Benefit: It will identify the target population and clinical endpoints in both infantile and juvenile populations. It will be vital in addressing questions of patients and families, medical practitioners and regulatory agencies.
Guangping Gao, PhD (University of Massachusetts Medical School)
Optimization of Efficacious Gene Therapy for Canavan Disease
- Description: The investigator will perform gene therapy experiments in a mouse model of Canavan disease to identify the best route of administration and determine the time window of treatment.
- Benefit: The project will provide critical information required to advance and translate this gene therapy to application in humans. Gene therapy given intravenously offers a safer method of delivery.
Yu-Tah Li, PhD (Tulane University)
Studies of Taurine-Conjugated GM2 in Tay-Sachs Disease
- Description: The goal of the proposal is to develop an assay for the detection of taurine-conjugated GM2 in the Tay-Sachs disease brain. Taurine conjugation is an established mechanism for detoxification, which means getting rid of the substrate, GM2, in this case.
Benefit: The information will be useful for identifying affected individuals that might benefit from therapy and to determine if taurine conjugation is a way to get rid of GM2. This new concept may lead to developing a novel therapeutic strategy for Tay-Sachs disease.
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NTSAD Research Grants 2010
In April, the NTSAD Research Initiative Committee announced 5 new grants totaling one-half million dollars for 2010. This is the largest dollar amount that has been funded in the Research Initiative's history and is the first time that multi-year grants have been awarded: 4 of the 5 grants are two-year grants. The grants are as follows:
Jean-Pyo Lee, PhD / Evan Y. Snyder, MD, PhD (Burnham Medical Research Institute):
The Therapeutic Potential of Human Induced Pluripotent Stem Cells (IPSCs) in the Sandhoff Disease Mouse Model of Lysosomal Storage Disorders.
- Description: This cutting-edge project will investigate the mechanisms of a new type of stem cells: induced pluripotent stem (IPS) cells.
- Benefit: If IPS derived cells could be used for therapy that would be a major step forward, as it takes away the problem of tissue rejection and the problem of working with embryonic stem cells.
Maria Traka, PhD (University of Chicago): Development of an in vitro approach to identify molecular pathways of Canavan disease
- Description: The investigator will use a mouse model of Canavan disease to study the molecular pathways in Canavan disease.
- Benefit: The project has a high likelihood of enhancing our knowledge of Canavan disease which will help develop therapies in the future.
Fran Platt, PhD (University of Oxford): Optimizing the Therapeutic Potential of Anti-inflammatory Therapy in Tay-Sachs and Related Diseases: Targeting IL-1β Generated by Aberrant NLRP3 Inflammasome Activation
- Description: Develop a mouse model of Sandhoff disease that lacks a particular receptor and use various analyses to determine the degree of anti-inflammatory benefit achieved in these mice, which will define the mechanism that triggers inflammation.
- Benefit: This grant addresses a significant problem involving ganglioside-associated neuro-inflammation. Clinical trials could proceed quickly if confirmation of a particular inflammatory mechanism can be confirmed.
Gustavo Maegawa, PhD (Johns Hopkins University) Developing a High Throughput Screening Assay to Identify Potential Drugs for Metachromatic Leukodystrophy
- Description: This grant is based on the principle that small molecules can enhance residual enzyme activity in patients with lysosomal storage diseases (LSD's). Through high throughput screening, candidate compounds for metachromatic leukodystrophy will be identified.
- Benefit: The cell-based assay will also indentify small molecules that could have broader application for treatment of other LSD's.
Doug Martin, PhD (Auburn University): Sheep as a Model of Tay-Sachs Disease
- Description: Characterization of disease progression in Tay-Sachs disease sheep and treatment the sheep with AAV vectors).
- Benefit: The sheep is the first true Tay-Sachs disease animal model (as the mouse and cat models are Sandhoff disease models). Also, the large sheep brain is closer in size to the human brain. Therefore, the current proposal is an essential step to test promising therapeutic strategies.
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